ClinVar for MedGen (Select 480034) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25784261.	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 24203942.	NM_012200.4(B3GAT3):c.357G>A (p.Pro119=) GRCh37: Chr11:62384720 GRCh38: Chr11:62617248	B3GAT3		Larsen-like syndrome, B3GAT3 type	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 21977603.	NM_012200.4(B3GAT3):c.474C>T (p.Val158=) GRCh37: Chr11:62384603 GRCh38: Chr11:62617131	B3GAT3		Larsen-like syndrome, B3GAT3 type	Likely benign (May 29, 2022)	criteria provided, single submitter
Select item 21966704.	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 21885695.	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 21870026.	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 21819717.	NM_012200.4(B3GAT3):c.340G>A (p.Ala114Thr) GRCh37: Chr11:62384737 GRCh38: Chr11:62617265	B3GAT3	A107T, A114T	Larsen-like syndrome, B3GAT3 type	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 21813308.	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 21788449.	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 217600810.	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 217157111.	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 217130712.	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 216921813.	NM_012200.4(B3GAT3):c.83-20T>C GRCh37: Chr11:62388163 GRCh38: Chr11:62620691	B3GAT3		Larsen-like syndrome, B3GAT3 type	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 216238614.	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 216193315.	NM_012200.4(B3GAT3):c.414C>G (p.Leu138=) GRCh37: Chr11:62384663 GRCh38: Chr11:62617191	B3GAT3		Larsen-like syndrome, B3GAT3 type	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 215809216.	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 215427917.	NM_012200.4(B3GAT3):c.83-11C>T GRCh37: Chr11:62388154 GRCh38: Chr11:62620682	B3GAT3		Larsen-like syndrome, B3GAT3 type	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 215011418.	NM_012200.4(B3GAT3):c.492C>T (p.Ala164=) GRCh37: Chr11:62384585 GRCh38: Chr11:62617113	B3GAT3		Larsen-like syndrome, B3GAT3 type	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 214920819.	NM_012200.4(B3GAT3):c.202C>G (p.Pro68Ala) GRCh37: Chr11:62388024 GRCh38: Chr11:62620552	B3GAT3	P61A, P68A	Inborn genetic diseases, Larsen-like syndrome, B3GAT3 type	Uncertain significance (Jun 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 214800020.	NM_012200.4(B3GAT3):c.444C>T (p.Gly148=) GRCh37: Chr11:62384633 GRCh38: Chr11:62617161	B3GAT3		Larsen-like syndrome, B3GAT3 type	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 214527721.	NM_012200.4(B3GAT3):c.279G>A (p.Leu93=) GRCh37: Chr11:62384798 GRCh38: Chr11:62617326	B3GAT3		Larsen-like syndrome, B3GAT3 type	Likely benign (Mar 24, 2022)	criteria provided, single submitter
Select item 214153222.	NM_012200.4(B3GAT3):c.313C>T (p.Arg105Trp) GRCh37: Chr11:62384764 GRCh38: Chr11:62617292	B3GAT3	R105W, R98W	Larsen-like syndrome, B3GAT3 type	Uncertain significance (Jan 16, 2022)	criteria provided, single submitter
Select item 214020323.	NM_012200.4(B3GAT3):c.82+3G>A GRCh37: Chr11:62389335 GRCh38: Chr11:62621863	B3GAT3		Larsen-like syndrome, B3GAT3 type	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 213712524.	NM_012200.4(B3GAT3):c.1A>G (p.Met1Val) GRCh37: Chr11:62389419 GRCh38: Chr11:62621947	B3GAT3	M1V	Larsen-like syndrome, B3GAT3 type	Likely pathogenic (Aug 27, 2022)	criteria provided, single submitter
Select item 212924025.	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 212655026.	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 211740927.	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 209241228.	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 208378929.	NM_012200.4(B3GAT3):c.390C>T (p.Leu130=) GRCh37: Chr11:62384687 GRCh38: Chr11:62617215	B3GAT3		Larsen-like syndrome, B3GAT3 type	Likely benign (Jan 16, 2022)	criteria provided, single submitter
Select item 208113030.	NM_012200.4(B3GAT3):c.517G>A (p.Gly173Ser) GRCh37: Chr11:62384560 GRCh38: Chr11:62617088	B3GAT3	G166S, G173S	Larsen-like syndrome, B3GAT3 type	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 207139531.	NM_012200.4(B3GAT3):c.350C>T (p.Pro117Leu) GRCh37: Chr11:62384727 GRCh38: Chr11:62617255	B3GAT3	P117L, P110L	Larsen-like syndrome, B3GAT3 type	Uncertain significance (Aug 18, 2022)	criteria provided, single submitter
Select item 206718632.	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 205913933.	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 205911634.	NM_012200.4(B3GAT3):c.466C>T (p.Arg156Cys) GRCh37: Chr11:62384611 GRCh38: Chr11:62617139	B3GAT3	R156C, R149C	not provided, Larsen-like syndrome, B3GAT3 type	Uncertain significance (Dec 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 205894235.	NM_012200.4(B3GAT3):c.459T>C (p.Val153=) GRCh37: Chr11:62384618 GRCh38: Chr11:62617146	B3GAT3		Larsen-like syndrome, B3GAT3 type	Likely benign (Jul 20, 2022)	criteria provided, single submitter
Select item 205258836.	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 204720237.	NM_012200.4(B3GAT3):c.178C>G (p.Arg60Gly) GRCh37: Chr11:62388048 GRCh38: Chr11:62620576	B3GAT3	R60G, R53G	Larsen-like syndrome, B3GAT3 type	Uncertain significance (Mar 16, 2022)	criteria provided, single submitter
Select item 203744538.	NM_012200.4(B3GAT3):c.560A>C (p.Gln187Pro) GRCh37: Chr11:62384517 GRCh38: Chr11:62617045	B3GAT3	Q180P, Q187P	Larsen-like syndrome, B3GAT3 type	Uncertain significance (Jul 2, 2022)	criteria provided, single submitter
Select item 203444639.	NM_012200.4(B3GAT3):c.240T>C (p.Val80=) GRCh37: Chr11:62387986 GRCh38: Chr11:62620514	B3GAT3		Larsen-like syndrome, B3GAT3 type	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 199889340.	NM_012200.4(B3GAT3):c.126_154dup (p.Ser52delinsCysSerTyrGlyArgArgIleTer) GRCh37: Chr11:62388071-62388072 GRCh38: Chr11:62620599-62620600	B3GAT3		Larsen-like syndrome, B3GAT3 type	Pathogenic (May 25, 2022)	criteria provided, single submitter
Select item 199580541.	NM_012200.4(B3GAT3):c.135del (p.Gln46fs) GRCh37: Chr11:62388091 GRCh38: Chr11:62620619	B3GAT3	Q46fs, Q39fs	Larsen-like syndrome, B3GAT3 type	Pathogenic (May 17, 2022)	criteria provided, single submitter
Select item 199162842.	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 199121543.	NM_012200.4(B3GAT3):c.82G>A (p.Gly28Ser) GRCh37: Chr11:62389338 GRCh38: Chr11:62621866	B3GAT3	G28S	Larsen-like syndrome, B3GAT3 type	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 198356444.	NM_012200.4(B3GAT3):c.229A>G (p.Ile77Val) GRCh37: Chr11:62387997 GRCh38: Chr11:62620525	B3GAT3	I70V, I77V	Larsen-like syndrome, B3GAT3 type	Uncertain significance (Jun 17, 2022)	criteria provided, single submitter
Select item 198215145.	NM_012200.4(B3GAT3):c.7CTGAAG[3] (p.Lys6_Asn7insLeuLys) GRCh37: Chr11:62389401-62389402 GRCh38: Chr11:62621929-62621930	B3GAT3		Larsen-like syndrome, B3GAT3 type	Uncertain significance (Jul 28, 2022)	criteria provided, single submitter
Select item 198158146.	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 197782947.	NM_012200.4(B3GAT3):c.465C>T (p.Pro155=) GRCh37: Chr11:62384612 GRCh38: Chr11:62617140	B3GAT3		Larsen-like syndrome, B3GAT3 type	Likely benign (Jun 10, 2022)	criteria provided, single submitter
Select item 197637448.	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 195323849.	NM_012200.4(B3GAT3):c.237T>C (p.Val79=) GRCh37: Chr11:62387989 GRCh38: Chr11:62620517	B3GAT3		Larsen-like syndrome, B3GAT3 type	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 194940050.	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 194015851.	NM_012200.4(B3GAT3):c.63C>G (p.Leu21=) GRCh37: Chr11:62389357 GRCh38: Chr11:62621885	B3GAT3		Larsen-like syndrome, B3GAT3 type	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 193951252.	NM_012200.4(B3GAT3):c.514G>A (p.Gly172Arg) GRCh37: Chr11:62384563 GRCh38: Chr11:62617091	B3GAT3	G165R, G172R	Larsen-like syndrome, B3GAT3 type	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 193818153.	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 190394654.	NM_012200.4(B3GAT3):c.211C>G (p.Pro71Ala) GRCh37: Chr11:62388015 GRCh38: Chr11:62620543	B3GAT3	P64A, P71A	Larsen-like syndrome, B3GAT3 type	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 189947255.	NM_012200.4(B3GAT3):c.74T>C (p.Val25Ala) GRCh37: Chr11:62389346 GRCh38: Chr11:62621874	B3GAT3	V25A	Larsen-like syndrome, B3GAT3 type	Uncertain significance (May 10, 2022)	criteria provided, single submitter
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 171084058.	NM_012200.4(B3GAT3):c.134G>T (p.Arg45Leu) GRCh37: Chr11:62388092 GRCh38: Chr11:62620620	B3GAT3	R38L, R45L	Larsen-like syndrome, B3GAT3 type, not provided	Uncertain significance (May 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167239859.	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 166540260.	NM_012200.4(B3GAT3):c.69G>T (p.Ala23=) GRCh37: Chr11:62389351 GRCh38: Chr11:62621879	B3GAT3		Larsen-like syndrome, B3GAT3 type	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 165025961.	NM_012200.4(B3GAT3):c.257+20C>G GRCh37: Chr11:62387949 GRCh38: Chr11:62620477	B3GAT3		Larsen-like syndrome, B3GAT3 type	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 162532262.	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 161449963.	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 161044964.	NM_012200.4(B3GAT3):c.243C>T (p.Thr81=) GRCh37: Chr11:62387983 GRCh38: Chr11:62620511	B3GAT3		Larsen-like syndrome, B3GAT3 type	Likely benign (Jan 11, 2022)	criteria provided, single submitter
Select item 160312265.	NM_012200.4(B3GAT3):c.168G>A (p.Ala56=) GRCh37: Chr11:62388058 GRCh38: Chr11:62620586	B3GAT3		Larsen-like syndrome, B3GAT3 type	Likely benign (Dec 3, 2021)	criteria provided, single submitter
Select item 159825666.	NM_012200.4(B3GAT3):c.486C>T (p.Asn162=) GRCh37: Chr11:62384591 GRCh38: Chr11:62617119	B3GAT3		Larsen-like syndrome, B3GAT3 type	Likely benign (Feb 10, 2022)	criteria provided, single submitter
Select item 159505967.	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 159392168.	NM_012200.4(B3GAT3):c.258-20G>A GRCh37: Chr11:62384839 GRCh38: Chr11:62617367	B3GAT3		Larsen-like syndrome, B3GAT3 type	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 158713269.	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 158584770.	NM_012200.4(B3GAT3):c.285A>G (p.Arg95=) GRCh37: Chr11:62384792 GRCh38: Chr11:62617320	B3GAT3		Larsen-like syndrome, B3GAT3 type	Likely benign (Aug 2, 2021)	criteria provided, single submitter
Select item 157639871.	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 157466472.	NM_012200.4(B3GAT3):c.345G>A (p.Glu115=) GRCh37: Chr11:62384732 GRCh38: Chr11:62617260	B3GAT3		Larsen-like syndrome, B3GAT3 type	Likely benign (Apr 22, 2021)	criteria provided, single submitter
Select item 156666673.	NM_012200.4(B3GAT3):c.257+17A>G GRCh37: Chr11:62387952 GRCh38: Chr11:62620480	B3GAT3		Larsen-like syndrome, B3GAT3 type	Likely benign (Jun 18, 2022)	criteria provided, single submitter
Select item 156611574.	NM_012200.4(B3GAT3):c.82+13G>T GRCh37: Chr11:62389325 GRCh38: Chr11:62621853	B3GAT3		Larsen-like syndrome, B3GAT3 type	Likely benign (Jun 14, 2021)	criteria provided, single submitter
Select item 155310975.	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 154264676.	NM_012200.4(B3GAT3):c.372G>T (p.Leu124=) GRCh37: Chr11:62384705 GRCh38: Chr11:62617233	B3GAT3		Larsen-like syndrome, B3GAT3 type	Likely benign (Nov 30, 2021)	criteria provided, single submitter
Select item 154248577.	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 153865178.	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 153669679.	NM_012200.4(B3GAT3):c.462T>C (p.His154=) GRCh37: Chr11:62384615 GRCh38: Chr11:62617143	B3GAT3		Larsen-like syndrome, B3GAT3 type	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 153144280.	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 153054181.	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 152613882.	NM_012200.4(B3GAT3):c.65A>G (p.Tyr22Cys) GRCh37: Chr11:62389355 GRCh38: Chr11:62621883	B3GAT3	Y22C	Larsen-like syndrome, B3GAT3 type	Uncertain significance (Sep 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 152404583.	NM_012200.4(B3GAT3):c.253G>A (p.Ala85Thr) GRCh37: Chr11:62387973 GRCh38: Chr11:62620501	B3GAT3	A78T, A85T	Larsen-like syndrome, B3GAT3 type	Uncertain significance (Oct 10, 2021)	criteria provided, single submitter
Select item 152074884.	NM_012200.4(B3GAT3):c.416C>T (p.Thr139Met) GRCh37: Chr11:62384661 GRCh38: Chr11:62617189	B3GAT3	T132M, T139M	Larsen-like syndrome, B3GAT3 type	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 150862485.	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 150307786.	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 150093787.	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 149864888.	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 149762389.	NM_012200.4(B3GAT3):c.290C>T (p.Ser97Phe) GRCh37: Chr11:62384787 GRCh38: Chr11:62617315	B3GAT3	S90F, S97F	Inborn genetic diseases, Larsen-like syndrome, B3GAT3 type	Uncertain significance (Jan 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 149386490.	NM_012200.4(B3GAT3):c.126G>C (p.Glu42Asp) GRCh37: Chr11:62388100 GRCh38: Chr11:62620628	B3GAT3	E35D, E42D	Larsen-like syndrome, B3GAT3 type	Uncertain significance (May 30, 2022)	criteria provided, single submitter
Select item 149211291.	NM_012200.4(B3GAT3):c.496G>T (p.Asp166Tyr) GRCh37: Chr11:62384581 GRCh38: Chr11:62617109	B3GAT3	D166Y, D159Y	Larsen-like syndrome, B3GAT3 type	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 148971892.	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 148192193.	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 147766694.	NM_012200.4(B3GAT3):c.548C>T (p.Pro183Leu) GRCh37: Chr11:62384529 GRCh38: Chr11:62617057	B3GAT3	P183L, P176L	Larsen-like syndrome, B3GAT3 type	Uncertain significance (Feb 3, 2022)	criteria provided, single submitter
Select item 147236895.	NM_012200.4(B3GAT3):c.325C>G (p.Leu109Val) GRCh37: Chr11:62384752 GRCh38: Chr11:62617280	B3GAT3	L109V, L102V	Larsen-like syndrome, B3GAT3 type	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 146885696.	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 145591997.	NM_012200.4(B3GAT3):c.283C>T (p.Arg95Ter) GRCh37: Chr11:62384794 GRCh38: Chr11:62617322	B3GAT3	R88, R95	not provided, Larsen-like syndrome, B3GAT3 type	Pathogenic/Likely pathogenic (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145022098.	NM_012200.4(B3GAT3):c.176G>A (p.Arg59Gln) GRCh37: Chr11:62388050 GRCh38: Chr11:62620578	B3GAT3	R52Q, R59Q	Larsen-like syndrome, B3GAT3 type	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter
Select item 144400799.	NM_012200.4(B3GAT3):c.526G>A (p.Gly176Ser) GRCh37: Chr11:62384551 GRCh38: Chr11:62617079	B3GAT3	G176S, G169S	Larsen-like syndrome, B3GAT3 type	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 1435237100.	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

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