ClinVar for MedGen (Select 61231) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4291808	NM_001360.3(DHCR7):c.764T>G (p.Phe255Cys)	DHCR7 (F197C +5 more)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4278054	NM_001360.3(DHCR7):c.778C>T (p.Arg260Trp)	DHCR7 (R202W +5 more)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065896	NM_001360.3(DHCR7):c.545G>C (p.Trp182Ser)	DHCR7 (W124S +4 more)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065893	NM_001360.3(DHCR7):c.563dup (p.Tyr189fs)	DHCR7 (Y131fs +4 more)	Duplication (frameshift variant)	Smith-Lemli-Opitz syndrome	GLikely pathogenic
Select item 4065892	NM_001360.3(DHCR7):c.-131-3C>A	DHCR7	Single nucleotide variant (intron variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065891	NM_001360.3(DHCR7):c.1317G>C (p.Leu439=)	DHCR7	Single nucleotide variant (synonymous variant +2 more)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065890	NM_001360.3(DHCR7):c.449C>T (p.Ala150Val)	DHCR7 (A118V +4 more)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065889	NM_001360.3(DHCR7):c.1173C>G (p.His391Gln)	DHCR7 (H333Q +7 more)	Single nucleotide variant (missense variant +2 more)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065888	NM_001360.3(DHCR7):c.1010C>T (p.Ala337Val)	DHCR7 (A279V +7 more)	Single nucleotide variant (missense variant +2 more)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065887	NM_001360.3(DHCR7):c.83A>G (p.Gln28Arg)	DHCR7 (Q28R)	Single nucleotide variant (missense variant +1 more)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065886	NM_001360.3(DHCR7):c.207T>G (p.Thr69=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 4065885	NM_001360.3(DHCR7):c.854T>A (p.Phe285Tyr)	DHCR7 (F227Y +5 more)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065884	NM_001360.3(DHCR7):c.407C>T (p.Pro136Leu)	DHCR7 (P104L +4 more)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065883	NM_001360.3(DHCR7):c.1136A>G (p.Glu379Gly)	DHCR7 (E321G +7 more)	Single nucleotide variant (missense variant +2 more)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065882	NM_001360.3(DHCR7):c.906C>A (p.Phe302Leu)	DHCR7 (F244L +5 more)	Single nucleotide variant (missense variant +1 more)	Smith-Lemli-Opitz syndrome	GLikely pathogenic
Select item 4065881	NM_001360.3(DHCR7):c.1327C>A (p.Arg443Ser)	DHCR7 (R385S +5 more)	Single nucleotide variant (missense variant +2 more)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065880	NM_001360.3(DHCR7):c.1123C>T (p.Pro375Ser)	DHCR7 (P317S +5 more)	Single nucleotide variant (missense variant +3 more)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065879	NM_001360.3(DHCR7):c.649T>C (p.Tyr217His)	DHCR7 (Y159H +5 more)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065878	NM_001360.3(DHCR7):c.-149G>T	DHCR7	Single nucleotide variant (5 prime UTR variant +1 more)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065876	NM_001360.3(DHCR7):c.47A>T (p.Asp16Val)	DHCR7 (D16V)	Single nucleotide variant (missense variant +1 more)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065875	NM_001360.3(DHCR7):c.645C>G (p.Phe215Leu)	DHCR7 (F157L +5 more)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065874	NM_001360.3(DHCR7):c.1252T>C (p.Tyr418His)	DHCR7 (Y360H +5 more)	Single nucleotide variant (missense variant +2 more)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065873	NM_001360.3(DHCR7):c.40A>C (p.Ser14Arg)	DHCR7 (S14R)	Single nucleotide variant (missense variant +1 more)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065872	NM_001360.3(DHCR7):c.302C>G (p.Thr101Ser)	DHCR7 (T101S +2 more)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065871	NM_001360.3(DHCR7):c.150C>A (p.Ala50=)	DHCR7	Single nucleotide variant (synonymous variant +2 more)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065870	NM_001360.3(DHCR7):c.-124G>A	DHCR7	Single nucleotide variant (5 prime UTR variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065869	NM_001360.3(DHCR7):c.-199C>A	DHCR7	Single nucleotide variant (5 prime UTR variant +1 more)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065868	NM_001360.3(DHCR7):c.163T>C (p.Tyr55His)	DHCR7 (Y55H)	Single nucleotide variant (missense variant +2 more)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065866	NM_001360.3(DHCR7):c.1174A>G (p.Ser392Gly)	DHCR7 (S334G +5 more)	Single nucleotide variant (missense variant +3 more)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065865	NM_001360.3(DHCR7):c.949C>G (p.Leu317Val)	DHCR7 (L259V +5 more)	Single nucleotide variant (missense variant +1 more)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065864	NM_001360.3(DHCR7):c.1083C>T (p.Phe361=)	DHCR7 (S374F +1 more)	Single nucleotide variant (synonymous variant +3 more)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065863	NM_001360.3(DHCR7):c.1389C>G (p.Thr463=)	DHCR7	Single nucleotide variant (synonymous variant +2 more)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065862	NM_001360.3(DHCR7):c.325C>T (p.Leu109Phe)	DHCR7 (L109F +4 more)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065861	NM_001360.3(DHCR7):c.1265G>A (p.Cys422Tyr)	DHCR7 (C364Y +5 more)	Single nucleotide variant (missense variant +2 more)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065860	NM_001360.3(DHCR7):c.344C>G (p.Pro115Arg)	DHCR7 (P115R +4 more)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065859	NM_001360.3(DHCR7):c.355C>G (p.His119Asp)	DHCR7 (H119D +4 more)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065858	NM_001360.3(DHCR7):c.369del (p.Gly124fs)	DHCR7 (G104fs +4 more)	Deletion (frameshift variant)	Smith-Lemli-Opitz syndrome	GLikely pathogenic
Select item 4065857	NM_001360.3(DHCR7):c.947A>T (p.Tyr316Phe)	DHCR7 (Y258F +5 more)	Single nucleotide variant (missense variant +1 more)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065855	NM_001360.3(DHCR7):c.321+4_321+10del	DHCR7 (S109fs +1 more)	Deletion (frameshift variant +1 more)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065854	NM_001360.2(DHCR7):c.-267T>A	DHCR7	Single nucleotide variant (intron variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065853	NM_001360.3(DHCR7):c.973T>G (p.Leu325Val)	DHCR7 (L267V +5 more)	Single nucleotide variant (missense variant +3 more)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065852	NM_001360.3(DHCR7):c.495G>C (p.Leu165=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065851	NM_001360.3(DHCR7):c.24C>T (p.Asn8=)	DHCR7	Single nucleotide variant (synonymous variant +1 more)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065850	NM_001360.3(DHCR7):c.-204G>T	DHCR7	Single nucleotide variant (5 prime UTR variant +1 more)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065849	NM_001360.3(DHCR7):c.-182_-171del	DHCR7	Deletion (5 prime UTR variant +1 more)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065848	NM_001360.3(DHCR7):c.-116A>G	DHCR7	Single nucleotide variant (5 prime UTR variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065847	NM_001360.3(DHCR7):c.-172A>C	DHCR7	Single nucleotide variant (5 prime UTR variant +1 more)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065845	NM_001360.3(DHCR7):c.971A>C (p.Tyr324Ser)	DHCR7 (T337P +7 more)	Single nucleotide variant (missense variant +2 more)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065844	NM_001360.3(DHCR7):c.1070A>C (p.Gln357Pro)	DHCR7 (Q299P +5 more)	Single nucleotide variant (missense variant +3 more)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065843	NM_001360.3(DHCR7):c.1057G>T (p.Val353Leu)	DHCR7 (V295L +5 more)	Single nucleotide variant (missense variant +3 more)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065842	NM_001360.3(DHCR7):c.588G>A (p.Met196Ile)	DHCR7 (M138I +4 more)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065841	NM_001360.3(DHCR7):c.1420A>C (p.Ile474Leu)	DHCR7 (I416L +5 more)	Single nucleotide variant (missense variant +2 more)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065840	NM_001360.3(DHCR7):c.615C>G (p.Ser205Arg)	DHCR7 (S147R +4 more)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065839	NM_001360.3(DHCR7):c.559C>G (p.Leu187Val)	DHCR7 (L129V +4 more)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065838	NM_001360.3(DHCR7):c.-103A>T	DHCR7	Single nucleotide variant (5 prime UTR variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065837	NM_001360.3(DHCR7):c.1130T>A (p.Val377Asp)	DHCR7 (S390T +7 more)	Single nucleotide variant (missense variant +2 more)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065836	NM_001360.3(DHCR7):c.807C>G (p.Ala269=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065835	NM_001360.3(DHCR7):c.289G>T (p.Ala97Ser)	DHCR7 (A39S +2 more)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065834	NM_001360.3(DHCR7):c.196T>G (p.Cys66Gly)	DHCR7 (C34G +2 more)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065833	NM_001360.3(DHCR7):c.1277A>T (p.His426Leu)	DHCR7 (H368L +5 more)	Single nucleotide variant (missense variant +2 more)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065832	NM_001360.3(DHCR7):c.963+1G>C	DHCR7 (V322L)	Single nucleotide variant (missense variant +2 more)	Smith-Lemli-Opitz syndrome	GLikely pathogenic
Select item 4065831	NM_001360.3(DHCR7):c.498C>T (p.Ser166=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 4065830	NM_001360.3(DHCR7):c.*7G>T	DHCR7	Single nucleotide variant (3 prime UTR variant +1 more)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065829	NM_001360.3(DHCR7):c.-154G>A	DHCR7	Single nucleotide variant (5 prime UTR variant +2 more)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065827	NM_001360.3(DHCR7):c.626G>C (p.Cys209Ser)	DHCR7 (C151S +4 more)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065826	NM_001360.3(DHCR7):c.-150G>C	DHCR7	Single nucleotide variant (5 prime UTR variant +1 more)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065825	NM_001360.3(DHCR7):c.174C>A (p.Ile58=)	DHCR7	Single nucleotide variant (synonymous variant +2 more)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065824	NM_001360.3(DHCR7):c.-125A>C	DHCR7	Single nucleotide variant (5 prime UTR variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065823	NM_001360.3(DHCR7):c.1376G>C (p.Trp459Ser)	DHCR7 (W401S +5 more)	Single nucleotide variant (missense variant +2 more)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065822	NM_001360.3(DHCR7):c.1424T>G (p.Phe475Cys)	DHCR7 (F417C +5 more)	Single nucleotide variant (missense variant +2 more)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065821	NM_001360.3(DHCR7):c.558C>T (p.Ile186=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065820	NM_001360.3(DHCR7):c.1313T>C (p.Ile438Thr)	DHCR7 (I380T +5 more)	Single nucleotide variant (missense variant +2 more)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065818	NM_001360.2(DHCR7):c.322_324del	DHCR7	Deletion	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065817	NM_001360.3(DHCR7):c.571G>T (p.Val191Phe)	DHCR7 (V133F +4 more)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065816	NM_001360.3(DHCR7):c.1038G>A (p.Val346=)	DHCR7 (W359* +1 more)	Single nucleotide variant (synonymous variant +3 more)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065815	NM_001360.3(DHCR7):c.1335C>T (p.Leu445=)	DHCR7	Single nucleotide variant (synonymous variant +2 more)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065814	NM_001360.3(DHCR7):c.1334T>C (p.Leu445Pro)	DHCR7 (L387P +5 more)	Single nucleotide variant (missense variant +2 more)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065813	NM_001360.3(DHCR7):c.-190G>A	DHCR7	Single nucleotide variant (5 prime UTR variant +1 more)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065812	NM_001360.3(DHCR7):c.-175G>T	DHCR7	Single nucleotide variant (5 prime UTR variant +1 more)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065811	NM_001360.2(DHCR7):c.-247C>T	DHCR7	Single nucleotide variant (intron variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 4065810	NM_001360.3(DHCR7):c.367C>A (p.Pro123Thr)	DHCR7 (P103T +4 more)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 3902470	NC_000011.9:g.(71146886_71148857)_(71152487_71153308)del	DHCR7	Deletion	Smith-Lemli-Opitz syndrome	GPathogenic
Select item 3730224	NM_001360.3(DHCR7):c.627-15A>C	DHCR7	Single nucleotide variant (intron variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 3729791	NM_001360.3(DHCR7):c.109T>G (p.Trp37Gly)	DHCR7 (W37G)	Single nucleotide variant (missense variant +2 more)	Smith-Lemli-Opitz syndrome +1 more	GUncertain significance
Select item 3724485	NM_001360.3(DHCR7):c.69C>A (p.Thr23=)	DHCR7	Single nucleotide variant (synonymous variant +1 more)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 3720831	NM_001360.3(DHCR7):c.858G>T (p.Trp286Cys)	DHCR7 (W266C +5 more)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 3720830	NM_001360.3(DHCR7):c.1211G>T (p.Arg404Leu)	DHCR7 (R346L +7 more)	Single nucleotide variant (missense variant +2 more)	Smith-Lemli-Opitz syndrome	GLikely pathogenic
Select item 3713278	NM_001360.3(DHCR7):c.322-18G>A	DHCR7	Single nucleotide variant (intron variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 3709909	NM_001360.3(DHCR7):c.938G>A (p.Trp313Ter)	DHCR7 (W325* +5 more)	Single nucleotide variant (nonsense +1 more)	Smith-Lemli-Opitz syndrome	GPathogenic
Select item 3695689	NM_001360.3(DHCR7):c.359_374del (p.Lys120fs)	DHCR7 (K62fs +4 more)	Deletion (frameshift variant)	Smith-Lemli-Opitz syndrome	GPathogenic
Select item 3686157	NM_001360.3(DHCR7):c.705C>T (p.Phe235=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 3667088	NM_001360.3(DHCR7):c.322-13T>C	DHCR7	Single nucleotide variant (intron variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 3649433	NM_001360.3(DHCR7):c.98+2T>C	DHCR7	Single nucleotide variant (splice donor variant)	Smith-Lemli-Opitz syndrome	GLikely pathogenic
Select item 3640874	NM_001360.3(DHCR7):c.627-11A>C	DHCR7	Single nucleotide variant (intron variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 3640591	NM_001360.3(DHCR7):c.723G>A (p.Gly241=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 3573996	NM_001360.3(DHCR7):c.38A>G (p.Lys13Arg)	DHCR7 (K13R)	Single nucleotide variant (missense variant +1 more)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 3573994	NM_001360.3(DHCR7):c.98+1G>C	DHCR7	Single nucleotide variant (splice donor variant)	Smith-Lemli-Opitz syndrome	GLikely pathogenic
Select item 3573993	NM_001360.3(DHCR7):c.156C>G (p.Phe52Leu)	DHCR7 (F52L)	Single nucleotide variant (missense variant +2 more)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 3573992	NM_001360.3(DHCR7):c.214G>A (p.Val72Met)	DHCR7 (V40M +2 more)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 3573991	NM_001360.3(DHCR7):c.306G>C (p.Leu102Phe)	DHCR7 (L44F +2 more)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance

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