26229[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1493851.	GRCh38/hg38 11q12.3(chr11:62249520-62946093)x3 GRCh37: Chr11:62016992-62713565 GRCh38: Chr11:62249520-62946093	AHNAK, ASRGL1, B3GAT3, BSCL2, C11orf98, CHRM1, CSKMT, EEF1G, EML3, GANAB, GNG3, HNRNPUL2, HNRNPUL2-BSCL2, INTS5, LBHD1, LOC124489748, LOC124489749, LOC124489750, LOC126861227, LOC126861228, LOC126861229, LOC130005824, LOC130005825, LOC130005826, LOC130005827, LOC130005828, LOC130005829, LOC130005830, LOC130005831, LOC130005832, LOC130005833, LOC130005834, LOC130005835, LOC130005836, LOC130005837, LOC130005838, LOC130005839, LOC130005840, LOC130005841, LOC130005842, LOC130005843, LOC130005844, LOC130005845, LOC130005846, LOC130005847, LOC130005848, LOC130005849, LOC130005850, LOC130005851, LOC130005852, LOC130005853, LOC130005854, LOC130005855, LOC130005856, LOC130005857, LOC130005858, LOC130005859, LOC130005860, LOC130005861, LOC130005862, LOC130005863, LOC130005864, LOC130005865, LOC130005866, LOC130005867, LOC130005868, LOC130005869, LOC130005870, LOC130005871, LOC130005872, LOC130005873, LOC130005874, LOC130005875, LOC130005876, LOC130005877, LOC130005878, LOC130005879, LOC130005880, LRRN4CL, MIR6514, MIR6747, MIR6748, MTA2, NXF1, POLR2G, ROM1, SCGB1A1, SCGB1D4, SCGB2A2, SLC3A2, SNHG1, SNORA57, SNORD22, SNORD25, SNORD26, SNORD27, SNORD28, SNORD29, SNORD30, SNORD31, STX5, STX5-DT, TAF6L, TEX54, TMEM179B, TMEM223, TTC9C, TUT1, UBXN1, UQCC3, WDR74, ZBTB3		See cases	Pathogenic (Sep 21, 2012)	no assertion criteria provided
Select item 597542.	GRCh38/hg38 11q12.3(chr11:62433886-63096003)x3 GRCh37: Chr11:62201358-62863475 GRCh38: Chr11:62433886-63096003	AHNAK, B3GAT3, BSCL2, C11orf98, CHRM1, CSKMT, EEF1G, EML3, GANAB, GNG3, HNRNPUL2, HNRNPUL2-BSCL2, INTS5, LBHD1, LOC124489749, LOC124489750, LOC124489751, LOC126861227, LOC126861228, LOC126861229, LOC130005828, LOC130005829, LOC130005830, LOC130005831, LOC130005832, LOC130005833, LOC130005834, LOC130005835, LOC130005836, LOC130005837, LOC130005838, LOC130005839, LOC130005840, LOC130005841, LOC130005842, LOC130005843, LOC130005844, LOC130005845, LOC130005846, LOC130005847, LOC130005848, LOC130005849, LOC130005850, LOC130005851, LOC130005852, LOC130005853, LOC130005854, LOC130005855, LOC130005856, LOC130005857, LOC130005858, LOC130005859, LOC130005860, LOC130005861, LOC130005862, LOC130005863, LOC130005864, LOC130005865, LOC130005866, LOC130005867, LOC130005868, LOC130005869, LOC130005870, LOC130005871, LOC130005872, LOC130005873, LOC130005874, LOC130005875, LOC130005876, LOC130005877, LOC130005878, LOC130005879, LOC130005880, LRRN4CL, MIR6514, MIR6747, MIR6748, MTA2, NXF1, POLR2G, ROM1, SLC22A24, SLC22A6, SLC22A8, SLC3A2, SNHG1, SNORA57, SNORD22, SNORD25, SNORD26, SNORD27, SNORD28, SNORD29, SNORD30, SNORD31, STX5, STX5-DT, TAF6L, TEX54, TMEM179B, TMEM223, TTC9C, TUT1, UBXN1, UQCC3, WDR74, ZBTB3		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 597553.	GRCh38/hg38 11q12.3(chr11:62452571-62862781)x3 GRCh37: Chr11:62220043-62630253 GRCh38: Chr11:62452571-62862781	AHNAK, B3GAT3, BSCL2, C11orf98, CSKMT, EEF1G, EML3, GANAB, GNG3, HNRNPUL2, HNRNPUL2-BSCL2, INTS5, LBHD1, LOC124489750, LOC126861227, LOC126861228, LOC130005829, LOC130005830, LOC130005831, LOC130005832, LOC130005833, LOC130005834, LOC130005835, LOC130005836, LOC130005837, LOC130005838, LOC130005839, LOC130005840, LOC130005841, LOC130005842, LOC130005843, LOC130005844, LOC130005845, LOC130005846, LOC130005847, LOC130005848, LOC130005849, LOC130005850, LOC130005851, LOC130005852, LOC130005853, LOC130005854, LOC130005855, LOC130005856, LOC130005857, LOC130005858, LOC130005859, LOC130005860, LOC130005861, LOC130005862, LOC130005863, LOC130005864, LOC130005865, LOC130005866, LOC130005867, LOC130005868, LOC130005869, LOC130005870, LOC130005871, LOC130005872, LOC130005873, LOC130005874, LOC130005875, LOC130005876, LOC130005877, LOC130005878, LRRN4CL, MIR6514, MIR6747, MIR6748, MTA2, NXF1, POLR2G, ROM1, SLC3A2, SNHG1, SNORA57, SNORD22, SNORD25, SNORD26, SNORD27, SNORD28, SNORD29, SNORD30, SNORD31, STX5, STX5-DT, TAF6L, TEX54, TMEM179B, TMEM223, TTC9C, TUT1, UBXN1, UQCC3, WDR74, ZBTB3		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1454324.	GRCh38/hg38 11q12.3(chr11:62562836-62840570)x3 GRCh37: Chr11:62330308-62608042 GRCh38: Chr11:62562836-62840570	B3GAT3, BSCL2, C11orf98, CSKMT, EEF1G, EML3, GANAB, GNG3, HNRNPUL2, HNRNPUL2-BSCL2, INTS5, LBHD1, LOC126861228, LOC130005835, LOC130005836, LOC130005837, LOC130005838, LOC130005839, LOC130005840, LOC130005841, LOC130005842, LOC130005843, LOC130005844, LOC130005845, LOC130005846, LOC130005847, LOC130005848, LOC130005849, LOC130005850, LOC130005851, LOC130005852, LOC130005853, LOC130005854, LOC130005855, LOC130005856, LOC130005857, LOC130005858, LOC130005859, LOC130005860, LOC130005861, LOC130005862, LOC130005863, LOC130005864, LOC130005865, LOC130005866, LOC130005867, LOC130005868, LOC130005869, LOC130005870, LOC130005871, LOC130005872, LRRN4CL, MIR6514, MIR6747, MIR6748, MTA2, NXF1, POLR2G, ROM1, SNORA57, STX5, STX5-DT, TAF6L, TEX54, TMEM179B, TMEM223, TTC9C, TUT1, UBXN1, UQCC3, WDR74, ZBTB3		See cases	Uncertain significance (Sep 30, 2010)	no assertion criteria provided
Select item 1950645.	NM_000327.4(ROM1):c.686G>A (p.Arg229His) GRCh37: Chr11:62381825 GRCh38: Chr11:62614353	B3GAT3, ROM1	R229H	not specified, not provided, Larsen-like syndrome, B3GAT3 type, Retinitis pigmentosa	Benign/Likely benign (Feb 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 1962526.	NM_000327.4(ROM1):c.868del (p.Gln290fs) GRCh37: Chr11:62382123 GRCh38: Chr11:62614651	B3GAT3, ROM1	Q290fs	Retinitis Pigmentosa, Dominant, not specified, not provided, Larsen-like syndrome, B3GAT3 type	Benign/Likely benign (May 22, 2020)	criteria provided, multiple submitters, no conflicts
Select item 16980277.	NM_012200.4(B3GAT3):c.*10del GRCh37: Chr11:62383163 GRCh38: Chr11:62615691	B3GAT3		not provided	Likely benign (Jul 20, 2022)	criteria provided, single submitter
Select item 12135638.	NM_012200.4(B3GAT3):c.*5G>A GRCh37: Chr11:62383168 GRCh38: Chr11:62615696	B3GAT3		not provided	Likely benign (Nov 13, 2020)	criteria provided, single submitter
Select item 20924129.	NM_012200.4(B3GAT3):c.1006T>G (p.Ter336Gly) GRCh37: Chr11:62383175 GRCh38: Chr11:62615703	B3GAT3		Larsen-like syndrome, B3GAT3 type	Uncertain significance (Feb 3, 2022)	criteria provided, single submitter
Select item 140673310.	NM_012200.4(B3GAT3):c.1000G>A (p.Glu334Lys) GRCh37: Chr11:62383181 GRCh38: Chr11:62615709	B3GAT3	E327K, E334K	Larsen-like syndrome, B3GAT3 type	Uncertain significance (Oct 13, 2021)	criteria provided, single submitter
Select item 140174711.	NM_012200.4(B3GAT3):c.998T>C (p.Ile333Thr) GRCh37: Chr11:62383183 GRCh38: Chr11:62615711	B3GAT3	I326T, I333T	Larsen-like syndrome, B3GAT3 type	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 93665512.	NM_012200.4(B3GAT3):c.992del (p.Pro331fs) GRCh37: Chr11:62383189 GRCh38: Chr11:62615717	B3GAT3	P324fs, P331fs	Larsen-like syndrome, B3GAT3 type	Uncertain significance (Jun 16, 2019)	criteria provided, single submitter
Select item 257842613.	NM_012200.4(B3GAT3):c.986C>G (p.Ser329Ter) GRCh37: Chr11:62383195 GRCh38: Chr11:62615723	B3GAT3	S322, S329	Larsen-like syndrome, B3GAT3 type	Likely pathogenic (Aug 29, 2023)	criteria provided, single submitter
Select item 102918014.	NM_012200.4(B3GAT3):c.980G>A (p.Arg327Gln) GRCh37: Chr11:62383201 GRCh38: Chr11:62615729	B3GAT3	R320Q, R327Q	Larsen-like syndrome, B3GAT3 type, not provided	Uncertain significance (Apr 14, 2023)	criteria provided, multiple submitters, no conflicts
Select item 161449915.	NM_012200.4(B3GAT3):c.979C>A (p.Arg327=) GRCh37: Chr11:62383202 GRCh38: Chr11:62615730	B3GAT3		Larsen-like syndrome, B3GAT3 type	Likely benign (Nov 1, 2021)	criteria provided, single submitter
Select item 119140516.	NM_012200.4(B3GAT3):c.979C>T (p.Arg327Trp) GRCh37: Chr11:62383202 GRCh38: Chr11:62615730	B3GAT3	R320W, R327W	Larsen-like syndrome, B3GAT3 type, not provided	Conflicting interpretations of pathogenicity (Sep 1, 2023)	criteria provided, conflicting interpretations
Select item 143523717.	NM_012200.4(B3GAT3):c.971G>A (p.Arg324Gln) GRCh37: Chr11:62383210 GRCh38: Chr11:62615738	B3GAT3	R317Q, R324Q	Larsen-like syndrome, B3GAT3 type	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 198158118.	NM_012200.4(B3GAT3):c.970C>T (p.Arg324Trp) GRCh37: Chr11:62383211 GRCh38: Chr11:62615739	B3GAT3	R317W, R324W	Larsen-like syndrome, B3GAT3 type	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 137714419.	NM_012200.4(B3GAT3):c.968A>T (p.Gln323Leu) GRCh37: Chr11:62383213 GRCh38: Chr11:62615741	B3GAT3	Q323L, Q316L	Larsen-like syndrome, B3GAT3 type	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 56741220.	NM_012200.4(B3GAT3):c.955G>C (p.Glu319Gln) GRCh37: Chr11:62383226 GRCh38: Chr11:62615754	B3GAT3	E319Q, E312Q	Larsen-like syndrome, B3GAT3 type	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 149864821.	NM_012200.4(B3GAT3):c.952C>T (p.Gln318Ter) GRCh37: Chr11:62383229 GRCh38: Chr11:62615757	B3GAT3	Q311, Q318	Larsen-like syndrome, B3GAT3 type	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 197637422.	NM_012200.4(B3GAT3):c.947T>G (p.Met316Arg) GRCh37: Chr11:62383234 GRCh38: Chr11:62615762	B3GAT3	M309R, M316R	Larsen-like syndrome, B3GAT3 type	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 77489623.	NM_012200.4(B3GAT3):c.930G>A (p.Arg310=) GRCh37: Chr11:62383251 GRCh38: Chr11:62615779	B3GAT3		Larsen-like syndrome, B3GAT3 type, not provided	Likely benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 257675024.	NM_012200.4(B3GAT3):c.929G>C (p.Arg310Pro) GRCh37: Chr11:62383252 GRCh38: Chr11:62615780	B3GAT3	R303P, R310P	not provided	Uncertain significance (Feb 16, 2023)	criteria provided, single submitter
Select item 125486325.	NM_012200.4(B3GAT3):c.929G>A (p.Arg310Gln) GRCh37: Chr11:62383252 GRCh38: Chr11:62615780	B3GAT3	R303Q, R310Q	not provided, See cases	Uncertain significance (Nov 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 135015426.	NM_012200.4(B3GAT3):c.910-3C>T GRCh37: Chr11:62383274 GRCh38: Chr11:62615802	B3GAT3		Larsen-like syndrome, B3GAT3 type	Uncertain significance (Jun 16, 2022)	criteria provided, single submitter
Select item 140734427.	NM_012200.4(B3GAT3):c.910-7G>A GRCh37: Chr11:62383278 GRCh38: Chr11:62615806	B3GAT3		Larsen-like syndrome, B3GAT3 type	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 217884428.	NM_012200.4(B3GAT3):c.910-10C>T GRCh37: Chr11:62383281 GRCh38: Chr11:62615809	B3GAT3		Larsen-like syndrome, B3GAT3 type	Likely benign (Aug 11, 2022)	criteria provided, single submitter
Select item 129662329.	NM_012200.4(B3GAT3):c.910-191G>A GRCh37: Chr11:62383462 GRCh38: Chr11:62615990	B3GAT3		not provided	Benign (Aug 20, 2018)	criteria provided, single submitter
Select item 126247530.	NM_012200.4(B3GAT3):c.910-222T>G GRCh37: Chr11:62383493 GRCh38: Chr11:62616021	B3GAT3		not provided	Benign (Oct 1, 2018)	criteria provided, single submitter
Select item 117487831.	NM_012200.4(B3GAT3):c.909+270_909+271del GRCh37: Chr11:62383707-62383708 GRCh38: Chr11:62616235-62616236	B3GAT3	E305fs	not specified, not provided	Benign/Likely benign	no assertion criteria provided
Select item 127112532.	NM_012200.4(B3GAT3):c.909+263_909+264insG GRCh37: Chr11:62383714-62383715 GRCh38: Chr11:62616242-62616243	B3GAT3		not provided	Benign (Sep 24, 2019)	criteria provided, single submitter
Select item 123798433.	NM_012200.4(B3GAT3):c.909+263C>T GRCh37: Chr11:62383715 GRCh38: Chr11:62616243	B3GAT3		not provided	Benign (Aug 10, 2019)	criteria provided, single submitter
Select item 80268034.	NM_012200.4(B3GAT3):c.909+263C>G GRCh37: Chr11:62383715 GRCh38: Chr11:62616243	B3GAT3		not provided, Larsen-like syndrome, B3GAT3 type	Benign (Aug 8, 2019)	criteria provided, multiple submitters, no conflicts
Select item 52222235.	NM_012200.4(B3GAT3):c.909+263del GRCh37: Chr11:62383715 GRCh38: Chr11:62616243	B3GAT3		Larsen-like syndrome, B3GAT3 type, not provided	Benign (Aug 20, 2019)	criteria provided, multiple submitters, no conflicts
Select item 127310836.	NM_012200.4(B3GAT3):c.909+262T>G GRCh37: Chr11:62383716 GRCh38: Chr11:62616244	B3GAT3		not provided	Benign (Aug 20, 2019)	criteria provided, single submitter
Select item 117500737.	NM_012200.4(B3GAT3):c.909+262del GRCh37: Chr11:62383716 GRCh38: Chr11:62616244	B3GAT3		not provided, not specified	Benign/Likely benign	no assertion criteria provided
Select item 137537938.	NM_012200.4(B3GAT3):c.909+20C>T GRCh37: Chr11:62383958 GRCh38: Chr11:62616486	B3GAT3		Larsen-like syndrome, B3GAT3 type	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 138144039.	NM_012200.4(B3GAT3):c.909G>T (p.Arg303=) GRCh37: Chr11:62383978 GRCh38: Chr11:62616506	B3GAT3		Larsen-like syndrome, B3GAT3 type	Uncertain significance (Jun 13, 2021)	criteria provided, single submitter
Select item 218856940.	NM_012200.4(B3GAT3):c.908G>A (p.Arg303Gln) GRCh37: Chr11:62383979 GRCh38: Chr11:62616507	B3GAT3	R296Q, R303Q	Larsen-like syndrome, B3GAT3 type	Uncertain significance (Dec 3, 2021)	criteria provided, single submitter
Select item 215809241.	NM_012200.4(B3GAT3):c.907C>T (p.Arg303Trp) GRCh37: Chr11:62383980 GRCh38: Chr11:62616508	B3GAT3	R296W, R303W	Larsen-like syndrome, B3GAT3 type	Uncertain significance (Jan 28, 2022)	criteria provided, single submitter
Select item 72992942.	NM_012200.4(B3GAT3):c.906T>G (p.Thr302=) GRCh37: Chr11:62383981 GRCh38: Chr11:62616509	B3GAT3		not provided, Larsen-like syndrome, B3GAT3 type	Likely benign (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97846743.	NM_012200.4(B3GAT3):c.889C>T (p.Arg297Trp) GRCh37: Chr11:62383998 GRCh38: Chr11:62616526	B3GAT3	R290W, R297W	Larsen-like syndrome, B3GAT3 type	Pathogenic	criteria provided, single submitter
Select item 205258844.	NM_012200.4(B3GAT3):c.876G>C (p.Lys292Asn) GRCh37: Chr11:62384011 GRCh38: Chr11:62616539	B3GAT3	K285N, K292N	Larsen-like syndrome, B3GAT3 type	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 219667045.	NM_012200.4(B3GAT3):c.871C>A (p.Pro291Thr) GRCh37: Chr11:62384016 GRCh38: Chr11:62616544	B3GAT3	P284T, P291T	Larsen-like syndrome, B3GAT3 type	Uncertain significance (Apr 10, 2022)	criteria provided, single submitter
Select item 139682446.	NM_012200.4(B3GAT3):c.866T>C (p.Val289Ala) GRCh37: Chr11:62384021 GRCh38: Chr11:62616549	B3GAT3	V289A, V282A	Larsen-like syndrome, B3GAT3 type	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 72837747.	NM_012200.4(B3GAT3):c.846C>T (p.Ser282=) GRCh37: Chr11:62384041 GRCh38: Chr11:62616569	B3GAT3		Larsen-like syndrome, B3GAT3 type	Likely benign (Sep 16, 2022)	criteria provided, single submitter
Select item 132970748.	NM_012200.4(B3GAT3):c.838C>T (p.Leu280=) GRCh37: Chr11:62384049 GRCh38: Chr11:62616577	B3GAT3		not provided	Uncertain significance (Jun 22, 2021)	criteria provided, single submitter
Select item 129851349.	NM_012200.4(B3GAT3):c.837C>A (p.His279Gln) GRCh37: Chr11:62384050 GRCh38: Chr11:62616578	B3GAT3	H272Q, H279Q	not provided	Uncertain significance (Aug 1, 2021)	criteria provided, single submitter
Select item 3057350.	NM_012200.4(B3GAT3):c.830G>A (p.Arg277Gln) GRCh37: Chr11:62384057 GRCh38: Chr11:62616585	B3GAT3	R277Q, R270Q	not provided, Larsen-like syndrome, B3GAT3 type	Pathogenic/Likely pathogenic (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 194940051.	NM_012200.4(B3GAT3):c.823G>A (p.Ala275Thr) GRCh37: Chr11:62384064 GRCh38: Chr11:62616592	B3GAT3	A268T, A275T	Larsen-like syndrome, B3GAT3 type	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 153865152.	NM_012200.4(B3GAT3):c.822C>T (p.Thr274=) GRCh37: Chr11:62384065 GRCh38: Chr11:62616593	B3GAT3		Larsen-like syndrome, B3GAT3 type	Likely benign (Jun 10, 2022)	criteria provided, single submitter
Select item 54415553.	NM_012200.4(B3GAT3):c.821C>A (p.Thr274Asn) GRCh37: Chr11:62384066 GRCh38: Chr11:62616594	B3GAT3	T274N, T267N	Larsen-like syndrome, B3GAT3 type, not provided	Benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 159505954.	NM_012200.4(B3GAT3):c.810A>G (p.Gln270=) GRCh37: Chr11:62384077 GRCh38: Chr11:62616605	B3GAT3		Larsen-like syndrome, B3GAT3 type	Likely benign (Mar 15, 2022)	criteria provided, single submitter
Select item 131341455.	NM_012200.4(B3GAT3):c.806C>T (p.Ala269Val) GRCh37: Chr11:62384081 GRCh38: Chr11:62616609	B3GAT3	A262V, A269V	not provided, Larsen-like syndrome, B3GAT3 type	Uncertain significance (Sep 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 181016656.	NM_012200.4(B3GAT3):c.803A>G (p.Asn268Ser) GRCh37: Chr11:62384084 GRCh38: Chr11:62616612	B3GAT3	N261S, N268S	not provided, Larsen-like syndrome, B3GAT3 type, Inborn genetic diseases	Uncertain significance (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 171397957.	NM_012200.4(B3GAT3):c.778C>G (p.Leu260Val) GRCh37: Chr11:62384109 GRCh38: Chr11:62616637	B3GAT3	L253V, L260V	Larsen-like syndrome, B3GAT3 type	Uncertain significance (Jul 27, 2022)	criteria provided, single submitter
Select item 118649658.	NM_012200.4(B3GAT3):c.772G>A (p.Val258Met) GRCh37: Chr11:62384115 GRCh38: Chr11:62616643	B3GAT3	V251M, V258M	not provided, Larsen-like syndrome, B3GAT3 type	Likely benign (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 154248559.	NM_012200.4(B3GAT3):c.771C>T (p.Ala257=) GRCh37: Chr11:62384116 GRCh38: Chr11:62616644	B3GAT3		Larsen-like syndrome, B3GAT3 type	Likely benign (Aug 26, 2022)	criteria provided, single submitter
Select item 217157160.	NM_012200.4(B3GAT3):c.743C>T (p.Pro248Leu) GRCh37: Chr11:62384144 GRCh38: Chr11:62616672	B3GAT3	P248L, P241L	Larsen-like syndrome, B3GAT3 type	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 131979661.	NM_012200.4(B3GAT3):c.743C>G (p.Pro248Arg) GRCh37: Chr11:62384144 GRCh38: Chr11:62616672	B3GAT3	P241R, P248R	not provided, Larsen-like syndrome, B3GAT3 type	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 71744762.	NM_012200.4(B3GAT3):c.741G>A (p.Arg247=) GRCh37: Chr11:62384146 GRCh38: Chr11:62616674	B3GAT3		not provided, Larsen-like syndrome, B3GAT3 type	Likely benign (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 146885663.	NM_012200.4(B3GAT3):c.738C>T (p.Ser246=) GRCh37: Chr11:62384149 GRCh38: Chr11:62616677	B3GAT3		Larsen-like syndrome, B3GAT3 type	Uncertain significance (Oct 15, 2021)	criteria provided, single submitter
Select item 206718664.	NM_012200.4(B3GAT3):c.725C>T (p.Ala242Val) GRCh37: Chr11:62384162 GRCh38: Chr11:62616690	B3GAT3	A242V, A235V	Larsen-like syndrome, B3GAT3 type	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 148971865.	NM_012200.4(B3GAT3):c.716T>A (p.Phe239Tyr) GRCh37: Chr11:62384171 GRCh38: Chr11:62616699	B3GAT3	F239Y, F232Y	Larsen-like syndrome, B3GAT3 type	Uncertain significance (Aug 14, 2021)	criteria provided, single submitter
Select item 78470866.	NM_012200.4(B3GAT3):c.709G>A (p.Val237Met) GRCh37: Chr11:62384178 GRCh38: Chr11:62616706	B3GAT3	V230M, V237M	Inborn genetic diseases, Larsen-like syndrome, B3GAT3 type, not provided	Conflicting interpretations of pathogenicity (Oct 23, 2022)	criteria provided, conflicting interpretations
Select item 119766367.	NM_012200.4(B3GAT3):c.707T>A (p.Val236Glu) GRCh37: Chr11:62384180 GRCh38: Chr11:62616708	B3GAT3	V229E, V236E	not provided, Larsen-like syndrome, B3GAT3 type	Conflicting interpretations of pathogenicity (Sep 21, 2021)	criteria provided, conflicting interpretations
Select item 85470068.	NM_012200.4(B3GAT3):c.704G>A (p.Arg235Gln) GRCh37: Chr11:62384183 GRCh38: Chr11:62616711	B3GAT3	R228Q, R235Q	Larsen-like syndrome, B3GAT3 type	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 216238669.	NM_012200.4(B3GAT3):c.699C>T (p.Asp233=) GRCh37: Chr11:62384188 GRCh38: Chr11:62616716	B3GAT3		Larsen-like syndrome, B3GAT3 type	Likely benign (Sep 24, 2022)	criteria provided, single submitter
Select item 205913970.	NM_012200.4(B3GAT3):c.694C>G (p.Gln232Glu) GRCh37: Chr11:62384193 GRCh38: Chr11:62616721	B3GAT3	Q232E, Q225E	Larsen-like syndrome, B3GAT3 type	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 150862471.	NM_012200.4(B3GAT3):c.685C>T (p.Pro229Ser) GRCh37: Chr11:62384202 GRCh38: Chr11:62616730	B3GAT3	P222S, P229S	Larsen-like syndrome, B3GAT3 type	Uncertain significance (Aug 14, 2021)	criteria provided, single submitter
Select item 153144272.	NM_012200.4(B3GAT3):c.684C>T (p.Gly228=) GRCh37: Chr11:62384203 GRCh38: Chr11:62616731	B3GAT3		Larsen-like syndrome, B3GAT3 type	Likely benign (Feb 3, 2022)	criteria provided, single submitter
Select item 217130773.	NM_012200.4(B3GAT3):c.681G>A (p.Glu227=) GRCh37: Chr11:62384206 GRCh38: Chr11:62616734	B3GAT3		Larsen-like syndrome, B3GAT3 type	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 153054174.	NM_012200.4(B3GAT3):c.678C>T (p.Phe226=) GRCh37: Chr11:62384209 GRCh38: Chr11:62616737	B3GAT3		Larsen-like syndrome, B3GAT3 type	Likely benign (Aug 22, 2021)	criteria provided, single submitter
Select item 62048075.	NM_012200.4(B3GAT3):c.673C>T (p.Arg225Ter) GRCh37: Chr11:62384214 GRCh38: Chr11:62616742	B3GAT3	R225, R218	not provided	Likely pathogenic (Jan 3, 2020)	criteria provided, single submitter
Select item 120407076.	NM_012200.4(B3GAT3):c.671T>A (p.Leu224Gln) GRCh37: Chr11:62384216 GRCh38: Chr11:62616744	B3GAT3	L217Q, L224Q	not provided	Pathogenic (Oct 5, 2021)	criteria provided, single submitter
Select item 22592477.	NM_012200.4(B3GAT3):c.667G>A (p.Gly223Ser) GRCh37: Chr11:62384220 GRCh38: Chr11:62616748	B3GAT3	G223S, G216S	MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH CONGENITAL HEART DEFECTS	Pathogenic (May 13, 2016)	no assertion criteria provided
Select item 167239878.	NM_012200.4(B3GAT3):c.666C>T (p.Gly222=) GRCh37: Chr11:62384221 GRCh38: Chr11:62616749	B3GAT3		Larsen-like syndrome, B3GAT3 type	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 105211779.	NM_012200.4(B3GAT3):c.657_665del (p.Leu220_Gly222del) GRCh37: Chr11:62384222-62384230 GRCh38: Chr11:62616750-62616758	B3GAT3		Larsen-like syndrome, B3GAT3 type	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 238700680.	NM_012200.4(B3GAT3):c.653T>G (p.Val218Gly) GRCh37: Chr11:62384234 GRCh38: Chr11:62616762	B3GAT3	V218G, V211G	Inborn genetic diseases	Uncertain significance (Nov 16, 2021)	criteria provided, single submitter
Select item 137498981.	NM_012200.4(B3GAT3):c.632G>A (p.Arg211His) GRCh37: Chr11:62384255 GRCh38: Chr11:62616783	B3GAT3	R204H, R211H	Larsen-like syndrome, B3GAT3 type	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 150307782.	NM_012200.4(B3GAT3):c.619-1G>A GRCh37: Chr11:62384269 GRCh38: Chr11:62616797	B3GAT3		Larsen-like syndrome, B3GAT3 type	Likely pathogenic (Sep 7, 2022)	criteria provided, single submitter
Select item 218133083.	NM_012200.4(B3GAT3):c.619-6dup GRCh37: Chr11:62384273-62384274 GRCh38: Chr11:62616801-62616802	B3GAT3		Larsen-like syndrome, B3GAT3 type	Likely benign (Apr 18, 2022)	criteria provided, single submitter
Select item 217600884.	NM_012200.4(B3GAT3):c.619-5G>A GRCh37: Chr11:62384273 GRCh38: Chr11:62616801	B3GAT3		Larsen-like syndrome, B3GAT3 type	Likely benign (Jun 17, 2022)	criteria provided, single submitter
Select item 109439585.	NM_012200.4(B3GAT3):c.619-6C>T GRCh37: Chr11:62384274 GRCh38: Chr11:62616802	B3GAT3		Larsen-like syndrome, B3GAT3 type	Likely benign (Aug 27, 2022)	criteria provided, single submitter
Select item 158713286.	NM_012200.4(B3GAT3):c.619-10C>T GRCh37: Chr11:62384278 GRCh38: Chr11:62616806	B3GAT3		Larsen-like syndrome, B3GAT3 type	Likely benign (Nov 11, 2021)	criteria provided, single submitter
Select item 155310987.	NM_012200.4(B3GAT3):c.619-11A>G GRCh37: Chr11:62384279 GRCh38: Chr11:62616807	B3GAT3		Larsen-like syndrome, B3GAT3 type	Likely benign (Nov 3, 2021)	criteria provided, single submitter
Select item 162532288.	NM_012200.4(B3GAT3):c.619-12G>A GRCh37: Chr11:62384280 GRCh38: Chr11:62616808	B3GAT3		Larsen-like syndrome, B3GAT3 type	Likely benign (May 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 212655089.	NM_012200.4(B3GAT3):c.619-19C>T GRCh37: Chr11:62384287 GRCh38: Chr11:62616815	B3GAT3		Larsen-like syndrome, B3GAT3 type	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 157639890.	NM_012200.4(B3GAT3):c.618+16G>A GRCh37: Chr11:62384443 GRCh38: Chr11:62616971	B3GAT3		Larsen-like syndrome, B3GAT3 type	Likely benign (Jun 3, 2021)	criteria provided, single submitter
Select item 212924091.	NM_012200.4(B3GAT3):c.618+11G>A GRCh37: Chr11:62384448 GRCh38: Chr11:62616976	B3GAT3		Larsen-like syndrome, B3GAT3 type	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 199162892.	NM_012200.4(B3GAT3):c.604G>T (p.Glu202Ter) GRCh37: Chr11:62384473 GRCh38: Chr11:62617001	B3GAT3	E202, E195	Larsen-like syndrome, B3GAT3 type	Pathogenic (Aug 16, 2022)	criteria provided, single submitter
Select item 218700293.	NM_012200.4(B3GAT3):c.601C>T (p.Arg201Trp) GRCh37: Chr11:62384476 GRCh38: Chr11:62617004	B3GAT3	R194W, R201W	Larsen-like syndrome, B3GAT3 type	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 211740994.	NM_012200.4(B3GAT3):c.597C>T (p.Tyr199=) GRCh37: Chr11:62384480 GRCh38: Chr11:62617008	B3GAT3		Larsen-like syndrome, B3GAT3 type	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 42704195.	NM_012200.4(B3GAT3):c.593C>T (p.Thr198Ile) GRCh37: Chr11:62384484 GRCh38: Chr11:62617012	B3GAT3	T198I, T191I	not provided, Larsen-like syndrome, B3GAT3 type	Uncertain significance (Mar 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 148192196.	NM_012200.4(B3GAT3):c.590A>C (p.Asn197Thr) GRCh37: Chr11:62384487 GRCh38: Chr11:62617015	B3GAT3	N190T, N197T	Larsen-like syndrome, B3GAT3 type	Uncertain significance (Oct 13, 2021)	criteria provided, single submitter
Select item 75002897.	NM_012200.4(B3GAT3):c.582C>T (p.Asp194=) GRCh37: Chr11:62384495 GRCh38: Chr11:62617023	B3GAT3		not provided, Larsen-like syndrome, B3GAT3 type	Likely benign (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 193818198.	NM_012200.4(B3GAT3):c.570C>T (p.Val190=) GRCh37: Chr11:62384507 GRCh38: Chr11:62617035	B3GAT3		Larsen-like syndrome, B3GAT3 type	Likely benign (Jul 28, 2022)	criteria provided, single submitter
Select item 150093799.	NM_012200.4(B3GAT3):c.568G>A (p.Val190Ile) GRCh37: Chr11:62384509 GRCh38: Chr11:62617037	B3GAT3	V190I, V183I	Larsen-like syndrome, B3GAT3 type	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 736250100.	NM_012200.4(B3GAT3):c.567C>T (p.Val189=) GRCh37: Chr11:62384510 GRCh38: Chr11:62617038	B3GAT3		Larsen-like syndrome, B3GAT3 type	Likely benign (Sep 27, 2021)	criteria provided, single submitter

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