1717[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1539411.	GRCh38/hg38 11q13.2-13.4(chr11:68031693-71593495)x1 GRCh37: Chr11:67799160-71304541 GRCh38: Chr11:68031693-71593495	ACTE1P, ANO1, C11orf24, CCND1, CHKA, CHKA-DT, CPT1A, CTTN, CTTN-DT, DHCR7, FADD, FGF19, FGF3, FGF4, GAL, IGHMBP2, KMT5B, KRTAP5-10, KRTAP5-11, KRTAP5-7, KRTAP5-8, KRTAP5-9, LINC01488, LINC02584, LINC02747, LINC02753, LINC02953, LOC105369367, LOC105369373, LOC109115964, LOC109117330, LOC109117331, LOC109245078, LOC109245079, LOC110121462, LOC110121479, LOC111413018, LOC111501772, LOC112081415, LOC112081416, LOC112136078, LOC113939929, LOC116216149, LOC116216150, LOC121392925, LOC121392926, LOC121832796, LOC121832797, LOC121832798, LOC124500679, LOC124500680, LOC124500681, LOC124500682, LOC124500683, LOC126861243, LOC126861244, LOC126861245, LOC126861246, LOC126861247, LOC126861248, LOC126861249, LOC126861250, LOC126861251, LOC126861252, LOC126861253, LOC126861254, LOC126861255, LOC126861256, LOC128772347, LOC128772348, LOC128772349, LOC128772350, LOC128772351, LOC128772352, LOC128772353, LOC338694, LRP5, LTO1, MIR3164, MIR3664, MIR4691, MIR548K, MIR6753, MIR6754, MIR7113, MRGPRD, MRGPRF, MRGPRF-AS1, MRPL21, MYEOV, NADSYN1, NDUFS8, PPFIA1, PPP6R3, SHANK2, SHANK2-AS1, SHANK2-AS3, SMIM38, TCIRG1, TESMIN, TPCN2		See cases	Likely pathogenic (Jul 18, 2014)	no assertion criteria provided
Select item 581642.	GRCh38/hg38 11q13.4(chr11:71164008-72309374)x3 GRCh37: Chr11:71088949-72020418 GRCh38: Chr11:71164008-72309374	ACTE1P, ANAPC15, CLPB, DEFB108B, DEFB131B, DHCR7, FAM86C1P, FOLR1, FOLR2, FOLR3, IL18BP, INPPL1, KRTAP5-10, KRTAP5-11, KRTAP5-7, KRTAP5-8, KRTAP5-9, LAMTOR1, LOC100128494, LOC111718492, LOC112136082, LOC121832798, LOC124500683, LOC126861256, LOC126861257, LOC126861258, LRRC51, LRTOMT, MIR3165, MIR6754, NADSYN1, NUMA1, PHOX2A, RNF121, SHANK2, TOMT, XNDC1N, XNDC1N-ZNF705EP-ALG1L9P, ZNF705E		See cases	Uncertain significance (Aug 12, 2011)	criteria provided, single submitter
Select item 3059323.	NM_001360.3(DHCR7):c.*790C>T GRCh37: Chr11:71145631 GRCh38: Chr11:71434585	DHCR7		Smith-Lemli-Opitz syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 3059334.	NM_001360.3(DHCR7):c.*779T>C GRCh37: Chr11:71145642 GRCh38: Chr11:71434596	DHCR7		Smith-Lemli-Opitz syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 3059345.	NM_001360.3(DHCR7):c.*765G>A GRCh37: Chr11:71145656 GRCh38: Chr11:71434610	DHCR7		Smith-Lemli-Opitz syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 3059356.	NM_001360.3(DHCR7):c.*761A>T GRCh37: Chr11:71145660 GRCh38: Chr11:71434614	DHCR7		Smith-Lemli-Opitz syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8815927.	NM_001360.3(DHCR7):c.*755C>T GRCh37: Chr11:71145666 GRCh38: Chr11:71434620	DHCR7		Smith-Lemli-Opitz syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 3059368.	NM_001360.3(DHCR7):c.*734A>G GRCh37: Chr11:71145687 GRCh38: Chr11:71434641	DHCR7		Smith-Lemli-Opitz syndrome	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 8827439.	NM_001360.3(DHCR7):c.*723C>A GRCh37: Chr11:71145698 GRCh38: Chr11:71434652	DHCR7		Smith-Lemli-Opitz syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30593710.	NM_001360.3(DHCR7):c.*700G>A GRCh37: Chr11:71145721 GRCh38: Chr11:71434675	DHCR7		Smith-Lemli-Opitz syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30593811.	NM_001360.3(DHCR7):c.*681T>C GRCh37: Chr11:71145740 GRCh38: Chr11:71434694	DHCR7		Smith-Lemli-Opitz syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30593912.	NM_001360.3(DHCR7):c.*644G>A GRCh37: Chr11:71145777 GRCh38: Chr11:71434731	DHCR7		Smith-Lemli-Opitz syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30594013.	NM_001360.3(DHCR7):c.*643C>T GRCh37: Chr11:71145778 GRCh38: Chr11:71434732	DHCR7		Smith-Lemli-Opitz syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 88274414.	NM_001360.3(DHCR7):c.*565G>A GRCh37: Chr11:71145856 GRCh38: Chr11:71434810	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Apr 27, 2017)	criteria provided, single submitter
Select item 30594115.	NM_001360.3(DHCR7):c.*480C>T GRCh37: Chr11:71145941 GRCh38: Chr11:71434895	DHCR7		Smith-Lemli-Opitz syndrome	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 30594216.	NM_001360.3(DHCR7):c.*451A>G GRCh37: Chr11:71145970 GRCh38: Chr11:71434924	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30594317.	NM_001360.3(DHCR7):c.*438G>A GRCh37: Chr11:71145983 GRCh38: Chr11:71434937	DHCR7		Smith-Lemli-Opitz syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30594418.	NM_001360.3(DHCR7):c.*424G>A GRCh37: Chr11:71145997 GRCh38: Chr11:71434951	DHCR7		Smith-Lemli-Opitz syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30594519.	NM_001360.3(DHCR7):c.*417C>T GRCh37: Chr11:71146004 GRCh38: Chr11:71434958	DHCR7		Smith-Lemli-Opitz syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88353620.	NM_001360.3(DHCR7):c.*358C>T GRCh37: Chr11:71146063 GRCh38: Chr11:71435017	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Apr 27, 2017)	criteria provided, single submitter
Select item 30594621.	NM_001360.3(DHCR7):c.*324C>T GRCh37: Chr11:71146097 GRCh38: Chr11:71435051	DHCR7		Smith-Lemli-Opitz syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30594722.	NM_001360.3(DHCR7):c.*261G>A GRCh37: Chr11:71146160 GRCh38: Chr11:71435114	DHCR7		Smith-Lemli-Opitz syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88116023.	NM_001360.3(DHCR7):c.*226C>T GRCh37: Chr11:71146195 GRCh38: Chr11:71435149	DHCR7		not provided, Smith-Lemli-Opitz syndrome	Conflicting interpretations of pathogenicity (Mar 1, 2023)	criteria provided, conflicting interpretations
Select item 88116124.	NM_001360.3(DHCR7):c.*192C>T GRCh37: Chr11:71146229 GRCh38: Chr11:71435183	DHCR7		Smith-Lemli-Opitz syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30594825.	NM_001360.3(DHCR7):c.161_172del GRCh37: Chr11:71146249-71146260 GRCh38: Chr11:71435203-71435214	DHCR7		not provided, Smith-Lemli-Opitz syndrome	Benign/Likely benign (Jun 16, 2018)	criteria provided, multiple submitters, no conflicts
Select item 30594926.	NM_001360.3(DHCR7):c.*119G>A GRCh37: Chr11:71146302 GRCh38: Chr11:71435256	DHCR7		not provided, Smith-Lemli-Opitz syndrome	Conflicting interpretations of pathogenicity (Mar 1, 2023)	criteria provided, conflicting interpretations
Select item 88116227.	NM_001360.3(DHCR7):c.*101C>G GRCh37: Chr11:71146320 GRCh38: Chr11:71435274	DHCR7		Smith-Lemli-Opitz syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88116328.	NM_001360.3(DHCR7):c.*85C>T GRCh37: Chr11:71146336 GRCh38: Chr11:71435290	DHCR7		Smith-Lemli-Opitz syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88116429.	NM_001360.3(DHCR7):c.*63G>T GRCh37: Chr11:71146358 GRCh38: Chr11:71435312	DHCR7		Smith-Lemli-Opitz syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88116530.	NM_001360.3(DHCR7):c.*57C>T GRCh37: Chr11:71146364 GRCh38: Chr11:71435318	DHCR7		Smith-Lemli-Opitz syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88116631.	NM_001360.3(DHCR7):c.*28G>T GRCh37: Chr11:71146393 GRCh38: Chr11:71435347	DHCR7		Smith-Lemli-Opitz syndrome, not provided	Conflicting interpretations of pathogenicity (Dec 24, 2018)	criteria provided, conflicting interpretations
Select item 30595032.	NM_001360.3(DHCR7):c.*25G>A GRCh37: Chr11:71146396 GRCh38: Chr11:71435350	DHCR7		Smith-Lemli-Opitz syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88163333.	NM_001360.3(DHCR7):c.*20G>T GRCh37: Chr11:71146401 GRCh38: Chr11:71435355	DHCR7		Smith-Lemli-Opitz syndrome	Uncertain significance (Feb 9, 2018)	criteria provided, single submitter
Select item 88163434.	NM_001360.3(DHCR7):c.*4C>T GRCh37: Chr11:71146417 GRCh38: Chr11:71435371	DHCR7		Smith-Lemli-Opitz syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 153447735.	NM_001360.3(DHCR7):c.1427A>G (p.Ter476=) GRCh37: Chr11:71146422 GRCh38: Chr11:71435376	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Sep 24, 2021)	criteria provided, single submitter
Select item 55838036.	NM_001360.3(DHCR7):c.1426T>A (p.Ter476Lys) GRCh37: Chr11:71146423 GRCh38: Chr11:71435377	DHCR7		Smith-Lemli-Opitz syndrome	Likely pathogenic (May 17, 2018)	criteria provided, single submitter
Select item 18894237.	NM_001360.3(DHCR7):c.1426T>C (p.Ter476Gln) GRCh37: Chr11:71146423 GRCh38: Chr11:71435377	DHCR7		Smith-Lemli-Opitz syndrome	Conflicting interpretations of pathogenicity (Jan 14, 2022)	criteria provided, conflicting interpretations
Select item 151861238.	NM_001360.3(DHCR7):c.1424T>C (p.Phe475Ser) GRCh37: Chr11:71146425 GRCh38: Chr11:71435379	DHCR7	F475S	not provided, Smith-Lemli-Opitz syndrome	Likely pathogenic (Nov 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 108464839.	NM_001360.3(DHCR7):c.1416T>G (p.Pro472=) GRCh37: Chr11:71146433 GRCh38: Chr11:71435387	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Jan 21, 2020)	criteria provided, single submitter
Select item 158289840.	NM_001360.3(DHCR7):c.1413G>A (p.Leu471=) GRCh37: Chr11:71146436 GRCh38: Chr11:71435390	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Mar 2, 2022)	criteria provided, single submitter
Select item 50185041.	NM_001360.3(DHCR7):c.1410G>A (p.Leu470=) GRCh37: Chr11:71146439 GRCh38: Chr11:71435393	DHCR7		Inborn genetic diseases, not provided, Smith-Lemli-Opitz syndrome	Conflicting interpretations of pathogenicity (Oct 27, 2022)	criteria provided, conflicting interpretations
Select item 52069042.	NM_001360.3(DHCR7):c.1409T>A (p.Leu470Gln) GRCh37: Chr11:71146440 GRCh38: Chr11:71435394	DHCR7	L470Q	Smith-Lemli-Opitz syndrome, Inborn genetic diseases	Pathogenic/Likely pathogenic (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 112180443.	NM_001360.3(DHCR7):c.1408C>T (p.Leu470=) GRCh37: Chr11:71146441 GRCh38: Chr11:71435395	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Jul 28, 2019)	criteria provided, single submitter
Select item 59685144.	NM_001360.3(DHCR7):c.1406G>A (p.Arg469His) GRCh37: Chr11:71146443 GRCh38: Chr11:71435397	DHCR7	R469H	Smith-Lemli-Opitz syndrome, not specified, not provided	Uncertain significance (Feb 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 44947645.	NM_001360.3(DHCR7):c.1406G>C (p.Arg469Pro) GRCh37: Chr11:71146443 GRCh38: Chr11:71435397	DHCR7	R469P	not provided, Smith-Lemli-Opitz syndrome	Conflicting interpretations of pathogenicity (Aug 8, 2021)	criteria provided, conflicting interpretations
Select item 55042546.	NM_001360.3(DHCR7):c.1405C>T (p.Arg469Cys) GRCh37: Chr11:71146444 GRCh38: Chr11:71435398	DHCR7	R469C	Smith-Lemli-Opitz syndrome, not provided	Uncertain significance (Aug 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 199961247.	NM_001360.3(DHCR7):c.1404C>G (p.Tyr468Ter) GRCh37: Chr11:71146445 GRCh38: Chr11:71435399	DHCR7	Y468*	Smith-Lemli-Opitz syndrome	Pathogenic (May 27, 2022)	criteria provided, single submitter
Select item 223025748.	NM_001360.3(DHCR7):c.1402T>C (p.Tyr468His) GRCh37: Chr11:71146447 GRCh38: Chr11:71435401	DHCR7	Y468H	Inborn genetic diseases	Uncertain significance (Mar 29, 2021)	criteria provided, single submitter
Select item 160570749.	NM_001360.3(DHCR7):c.1398G>A (p.Val466=) GRCh37: Chr11:71146451 GRCh38: Chr11:71435405	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Sep 19, 2021)	criteria provided, single submitter
Select item 213718850.	NM_001360.3(DHCR7):c.1397T>C (p.Val466Ala) GRCh37: Chr11:71146452 GRCh38: Chr11:71435406	DHCR7	V466A	Smith-Lemli-Opitz syndrome	Likely pathogenic (Aug 10, 2022)	criteria provided, single submitter
Select item 26509751.	NM_001360.3(DHCR7):c.1396G>A (p.Val466Met) GRCh37: Chr11:71146453 GRCh38: Chr11:71435407	DHCR7	V466M	not provided, Smith-Lemli-Opitz syndrome	Pathogenic/Likely pathogenic (Oct 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 191016852.	NM_001360.3(DHCR7):c.1395A>T (p.Ala465=) GRCh37: Chr11:71146454 GRCh38: Chr11:71435408	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Nov 21, 2020)	criteria provided, single submitter
Select item 202873953.	NM_001360.3(DHCR7):c.1393G>T (p.Ala465Ser) GRCh37: Chr11:71146456 GRCh38: Chr11:71435410	DHCR7	A465S	Smith-Lemli-Opitz syndrome	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 114811554.	NM_001360.3(DHCR7):c.1392C>T (p.Ala464=) GRCh37: Chr11:71146457 GRCh38: Chr11:71435411	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 169961355.	NM_001360.3(DHCR7):c.1390G>A (p.Ala464Thr) GRCh37: Chr11:71146459 GRCh38: Chr11:71435413	DHCR7	A464T	not provided	Uncertain significance (Feb 1, 2022)	criteria provided, single submitter
Select item 30595156.	NM_001360.3(DHCR7):c.1389C>T (p.Thr463=) GRCh37: Chr11:71146460 GRCh38: Chr11:71435414	DHCR7		Inborn genetic diseases, Smith-Lemli-Opitz syndrome	Conflicting interpretations of pathogenicity (Apr 22, 2023)	criteria provided, conflicting interpretations
Select item 177140057.	NM_001360.3(DHCR7):c.1386C>T (p.Tyr462=) GRCh37: Chr11:71146463 GRCh38: Chr11:71435417	DHCR7		Inborn genetic diseases	Likely benign (Feb 11, 2020)	criteria provided, single submitter
Select item 55541258.	NM_001360.3(DHCR7):c.1386C>A (p.Tyr462Ter) GRCh37: Chr11:71146463 GRCh38: Chr11:71435417	DHCR7	Y462*	Smith-Lemli-Opitz syndrome	Uncertain significance (Dec 4, 2017)	criteria provided, single submitter
Select item 211934259.	NM_001360.3(DHCR7):c.1385A>G (p.Tyr462Cys) GRCh37: Chr11:71146464 GRCh38: Chr11:71435418	DHCR7	Y462C	Smith-Lemli-Opitz syndrome	Likely pathogenic (Mar 29, 2022)	criteria provided, single submitter
Select item 9371160.	NM_001360.3(DHCR7):c.1384T>C (p.Tyr462His) GRCh37: Chr11:71146465 GRCh38: Chr11:71435419	DHCR7	Y462H	Smith-Lemli-Opitz syndrome, not provided	Conflicting interpretations of pathogenicity (Feb 7, 2023)	criteria provided, conflicting interpretations
Select item 30595261.	NM_001360.3(DHCR7):c.1381C>T (p.Arg461Cys) GRCh37: Chr11:71146468 GRCh38: Chr11:71435422	DHCR7	R461C	Inborn genetic diseases, not provided, not specified, Smith-Lemli-Opitz syndrome	Uncertain significance (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 204310162.	NM_001360.3(DHCR7):c.1379A>G (p.Glu460Gly) GRCh37: Chr11:71146470 GRCh38: Chr11:71435424	DHCR7	E460G	Smith-Lemli-Opitz syndrome, Inborn genetic diseases	Uncertain significance (Apr 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 55836163.	NM_001360.3(DHCR7):c.1376G>A (p.Trp459Ter) GRCh37: Chr11:71146473 GRCh38: Chr11:71435427	DHCR7	W459*	Smith-Lemli-Opitz syndrome	Uncertain significance (May 23, 2018)	criteria provided, single submitter
Select item 196907564.	NM_001360.3(DHCR7):c.1373A>G (p.Asp458Gly) GRCh37: Chr11:71146476 GRCh38: Chr11:71435430	DHCR7	D458G	Smith-Lemli-Opitz syndrome	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 28550865.	NM_001360.3(DHCR7):c.1370G>A (p.Arg457Gln) GRCh37: Chr11:71146479 GRCh38: Chr11:71435433	DHCR7	R457Q	not provided, Smith-Lemli-Opitz syndrome, Inborn genetic diseases	Uncertain significance (Jul 14, 2020)	criteria provided, multiple submitters, no conflicts
Select item 130326366.	NM_001360.3(DHCR7):c.1369C>T (p.Arg457Trp) GRCh37: Chr11:71146480 GRCh38: Chr11:71435434	DHCR7	R457W	Smith-Lemli-Opitz syndrome, not provided	Uncertain significance (May 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9371067.	NM_001360.3(DHCR7):c.1368C>T (p.Gly456=) GRCh37: Chr11:71146481 GRCh38: Chr11:71435435	DHCR7		not specified, Smith-Lemli-Opitz syndrome, Inborn genetic diseases, not provided	Conflicting interpretations of pathogenicity (May 1, 2023)	criteria provided, conflicting interpretations
Select item 59513168.	NM_001360.3(DHCR7):c.1366G>A (p.Gly456Ser) GRCh37: Chr11:71146483 GRCh38: Chr11:71435437	DHCR7	G456S	Smith-Lemli-Opitz syndrome, Inborn genetic diseases, not provided	Uncertain significance (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 29004069.	NM_001360.3(DHCR7):c.1365C>T (p.Tyr455=) GRCh37: Chr11:71146484 GRCh38: Chr11:71435438	DHCR7		not provided, Smith-Lemli-Opitz syndrome, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Oct 28, 2022)	criteria provided, conflicting interpretations
Select item 84596470.	NM_001360.3(DHCR7):c.1364A>T (p.Tyr455Phe) GRCh37: Chr11:71146485 GRCh38: Chr11:71435439	DHCR7	Y455F	Smith-Lemli-Opitz syndrome	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 19906671.	NM_001360.3(DHCR7):c.1362G>A (p.Lys454=) GRCh37: Chr11:71146487 GRCh38: Chr11:71435441	DHCR7		Inborn genetic diseases, not provided, Smith-Lemli-Opitz syndrome	Conflicting interpretations of pathogenicity (Nov 2, 2022)	criteria provided, conflicting interpretations
Select item 139268772.	NM_001360.3(DHCR7):c.1360A>T (p.Lys454Ter) GRCh37: Chr11:71146489 GRCh38: Chr11:71435443	DHCR7	K454*	Smith-Lemli-Opitz syndrome	Pathogenic (Sep 25, 2021)	criteria provided, single submitter
Select item 212783373.	NM_001360.3(DHCR7):c.1359C>T (p.Ser453=) GRCh37: Chr11:71146490 GRCh38: Chr11:71435444	DHCR7		Smith-Lemli-Opitz syndrome	Uncertain significance (Apr 18, 2022)	criteria provided, single submitter
Select item 109878974.	NM_001360.3(DHCR7):c.1354G>A (p.Ala452Thr) GRCh37: Chr11:71146495 GRCh38: Chr11:71435449	DHCR7	A452T	not provided, not specified, Smith-Lemli-Opitz syndrome	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 73054475.	NM_001360.3(DHCR7):c.1353C>T (p.Cys451=) GRCh37: Chr11:71146496 GRCh38: Chr11:71435450	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Feb 5, 2022)	criteria provided, single submitter
Select item 170924176.	NM_001360.3(DHCR7):c.1351T>C (p.Cys451Arg) GRCh37: Chr11:71146498 GRCh38: Chr11:71435452	DHCR7	C451R	Smith-Lemli-Opitz syndrome, not provided	Pathogenic/Likely pathogenic (Mar 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 257080577.	NM_001360.3(DHCR7):c.1350C>G (p.Arg450=) GRCh37: Chr11:71146499 GRCh38: Chr11:71435453	DHCR7		not provided	Likely benign (Jun 1, 2023)	criteria provided, single submitter
Select item 65289478.	NM_001360.3(DHCR7):c.1349_1350delinsTG (p.Arg450Leu) GRCh37: Chr11:71146499-71146500 GRCh38: Chr11:71435453-71435454	DHCR7	R450L	not provided, Smith-Lemli-Opitz syndrome, Inborn genetic diseases	Pathogenic (Jul 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 55855879.	NM_001360.3(DHCR7):c.1349G>A (p.Arg450His) GRCh37: Chr11:71146500 GRCh38: Chr11:71435454	DHCR7	R450H	not specified, not provided, Inborn genetic diseases, Smith-Lemli-Opitz syndrome	Conflicting interpretations of pathogenicity (Mar 13, 2023)	criteria provided, conflicting interpretations
Select item 217446580.	NM_001360.3(DHCR7):c.1348C>T (p.Arg450Cys) GRCh37: Chr11:71146501 GRCh38: Chr11:71435455	DHCR7	R450C	Smith-Lemli-Opitz syndrome	Likely pathogenic (Aug 21, 2022)	criteria provided, single submitter
Select item 28226881.	NM_001360.3(DHCR7):c.1348del (p.Arg450fs) GRCh37: Chr11:71146501 GRCh38: Chr11:71435455	DHCR7	R450fs	not provided, Smith-Lemli-Opitz syndrome	Likely pathogenic (Apr 14, 2023)	criteria provided, multiple submitters, no conflicts
Select item 162752982.	NM_001360.3(DHCR7):c.1347C>T (p.His449=) GRCh37: Chr11:71146502 GRCh38: Chr11:71435456	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Sep 18, 2022)	criteria provided, single submitter
Select item 81342283.	NM_001360.3(DHCR7):c.1342_1344delinsC (p.Glu448fs) GRCh37: Chr11:71146505-71146507 GRCh38: Chr11:71435459-71435461	DHCR7	E448fs	Smith-Lemli-Opitz syndrome	Likely pathogenic	criteria provided, single submitter
Select item 55496584.	NM_001360.3(DHCR7):c.1342G>C (p.Glu448Gln) GRCh37: Chr11:71146507 GRCh38: Chr11:71435461	DHCR7	E448Q	not specified, Smith-Lemli-Opitz syndrome, not provided	Conflicting interpretations of pathogenicity (Aug 9, 2022)	criteria provided, conflicting interpretations
Select item 679285.	NM_001360.3(DHCR7):c.1342G>A (p.Glu448Lys) GRCh37: Chr11:71146507 GRCh38: Chr11:71435461	DHCR7	E448K	not provided, Smith-Lemli-Opitz syndrome	Pathogenic/Likely pathogenic (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9370986.	NM_001360.3(DHCR7):c.1341C>T (p.Asp447=) GRCh37: Chr11:71146508 GRCh38: Chr11:71435462	DHCR7		not specified, not provided, Inborn genetic diseases, Smith-Lemli-Opitz syndrome	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 156879287.	NM_001360.3(DHCR7):c.1338G>C (p.Arg446=) GRCh37: Chr11:71146511 GRCh38: Chr11:71435465	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Jun 27, 2021)	criteria provided, single submitter
Select item 106690688.	NM_001360.3(DHCR7):c.1337G>C (p.Arg446Pro) GRCh37: Chr11:71146512 GRCh38: Chr11:71435466	DHCR7	R446P	Smith-Lemli-Opitz syndrome	Likely pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 104737389.	NM_001360.3(DHCR7):c.1334_1336dup (p.Leu445dup) GRCh37: Chr11:71146512-71146513 GRCh38: Chr11:71435466-71435467	DHCR7		Smith-Lemli-Opitz syndrome	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 43199490.	NM_001360.3(DHCR7):c.1337G>A (p.Arg446Gln) GRCh37: Chr11:71146512 GRCh38: Chr11:71435466	DHCR7	R446Q	not provided, Inborn genetic diseases, Smith-Lemli-Opitz syndrome	Pathogenic/Likely pathogenic (Sep 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55125791.	NM_001360.3(DHCR7):c.1336C>T (p.Arg446Trp) GRCh37: Chr11:71146513 GRCh38: Chr11:71435467	DHCR7	R446W	Smith-Lemli-Opitz syndrome, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Oct 7, 2022)	criteria provided, conflicting interpretations
Select item 107190792.	NM_001360.3(DHCR7):c.1328G>C (p.Arg443Pro) GRCh37: Chr11:71146521 GRCh38: Chr11:71435475	DHCR7	R443P	Smith-Lemli-Opitz syndrome	Pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 106674193.	NM_001360.3(DHCR7):c.1328G>T (p.Arg443Leu) GRCh37: Chr11:71146521 GRCh38: Chr11:71435475	DHCR7	R443L	not provided, Smith-Lemli-Opitz syndrome	Likely pathogenic (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 39751994.	NM_001360.3(DHCR7):c.1328G>A (p.Arg443His) GRCh37: Chr11:71146521 GRCh38: Chr11:71435475	DHCR7	R443H	not provided, Smith-Lemli-Opitz syndrome	Pathogenic/Likely pathogenic (Jun 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55735995.	NM_001360.3(DHCR7):c.1327C>T (p.Arg443Cys) GRCh37: Chr11:71146522 GRCh38: Chr11:71435476	DHCR7	R443C	Smith-Lemli-Opitz syndrome	Pathogenic/Likely pathogenic (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85408696.	NM_001360.3(DHCR7):c.1325A>G (p.His442Arg) GRCh37: Chr11:71146524 GRCh38: Chr11:71435478	DHCR7	H442R	Smith-Lemli-Opitz syndrome	Pathogenic (Aug 30, 2021)	criteria provided, single submitter
Select item 106607697.	NM_001360.3(DHCR7):c.1324C>G (p.His442Asp) GRCh37: Chr11:71146525 GRCh38: Chr11:71435479	DHCR7	H442D	Smith-Lemli-Opitz syndrome	Likely pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 147011698.	NM_001360.3(DHCR7):c.1321A>G (p.Thr441Ala) GRCh37: Chr11:71146528 GRCh38: Chr11:71435482	DHCR7	T441A	Smith-Lemli-Opitz syndrome	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 154158599.	NM_001360.3(DHCR7):c.1318C>T (p.Leu440=) GRCh37: Chr11:71146531 GRCh38: Chr11:71435485	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Apr 14, 2021)	criteria provided, single submitter
Select item 1150210100.	NM_001360.3(DHCR7):c.1315C>T (p.Leu439=) GRCh37: Chr11:71146534 GRCh38: Chr11:71435488	DHCR7		Smith-Lemli-Opitz syndrome	Likely benign (Jan 16, 2022)	criteria provided, single submitter

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