ClinVar for MedGen (Select 61231) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336096	NM_001360.3(DHCR7):c.963+1G>A	DHCR7	Single nucleotide variant (splice donor variant)	Smith-Lemli-Opitz syndrome	GLikely pathogenic
Select item 3244559	NC_000011.9:g.(?_71146421)_(71149009_?)del	DHCR7	Deletion	Smith-Lemli-Opitz syndrome	GPathogenic
Select item 3235922	NM_001360.3(DHCR7):c.626+1013G>A	DHCR7	Single nucleotide variant (intron variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 3233814	NM_000369.5(TSHR):c.1348del (p.Arg450fs)	TSHR (R450fs)	Deletion (frameshift variant)	Hypothyroidism due to TSH receptor mutations +1 more	GPathogenic
Select item 3233720	NM_001360.3(DHCR7):c.1327C>G (p.Arg443Gly)	DHCR7 (R385G +5 more)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GLikely pathogenic
Select item 3233440	NM_001360.3(DHCR7):c.1141T>C (p.Ser381Pro)	DHCR7 (S323P +5 more)	Single nucleotide variant (missense variant +1 more)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 3018883	NM_001360.3(DHCR7):c.18A>G (p.Gln6=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 3018348	NM_001360.3(DHCR7):c.413-12C>T	DHCR7	Single nucleotide variant (intron variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 3018230	NM_001360.3(DHCR7):c.555C>T (p.Asn185=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 3017126	NM_001360.3(DHCR7):c.413-17G>C	DHCR7	Single nucleotide variant (intron variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 3015221	NM_001360.3(DHCR7):c.537A>G (p.Pro179=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 3015029	NM_001360.3(DHCR7):c.816G>T (p.Leu272=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 3013573	NM_001360.3(DHCR7):c.413-19C>T	DHCR7	Single nucleotide variant (intron variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 3006382	NM_001360.3(DHCR7):c.964-23_964-20dup	DHCR7	Duplication (frameshift variant +1 more)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 3005472	NM_001360.3(DHCR7):c.321+19G>A	DHCR7 (G114R +1 more)	Single nucleotide variant (missense variant +1 more)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 3003374	NM_001360.3(DHCR7):c.412+19C>T	DHCR7	Single nucleotide variant (intron variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2996081	NM_001360.3(DHCR7):c.1407C>T (p.Arg469=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2994271	NM_001360.3(DHCR7):c.636A>G (p.Thr212=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2993642	NM_001360.3(DHCR7):c.98+1G>T	DHCR7	Single nucleotide variant (splice donor variant)	Smith-Lemli-Opitz syndrome	GLikely pathogenic
Select item 2992727	NM_001360.3(DHCR7):c.174C>T (p.Ile58=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2991573	NM_001360.3(DHCR7):c.1062C>G (p.Ala354=)	DHCR7 (P367R +1 more)	Single nucleotide variant (synonymous variant +1 more)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2991301	NM_001360.3(DHCR7):c.1305C>T (p.Tyr435=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2990478	NM_001360.3(DHCR7):c.832-14C>T	DHCR7	Single nucleotide variant (intron variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2986337	NM_001360.3(DHCR7):c.626+19G>T	DHCR7	Single nucleotide variant (intron variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2984213	NM_001360.3(DHCR7):c.1035G>C (p.Leu345=)	DHCR7 (W390S +1 more)	Single nucleotide variant (synonymous variant +1 more)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2980046	NM_001360.3(DHCR7):c.1137G>A (p.Glu379=)	DHCR7 (S392N +1 more)	Single nucleotide variant (synonymous variant +1 more)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2968929	NM_001360.3(DHCR7):c.278C>A (p.Thr93Lys)	DHCR7 (T61K +2 more)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GLikely pathogenic
Select item 2956140	NM_001360.3(DHCR7):c.1056G>A (p.Arg352=)	DHCR7 (G397E +1 more)	Single nucleotide variant (synonymous variant +1 more)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2955038	NM_001360.3(DHCR7):c.964-13C>G	DHCR7 (P330R +1 more)	Single nucleotide variant (missense variant +1 more)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2918569	NM_001360.3(DHCR7):c.1293_1307del (p.Phe431_Met436delinsLeu)	DHCR7	Deletion (inframe_indel)	Smith-Lemli-Opitz syndrome	GPathogenic
Select item 2916958	NM_001360.3(DHCR7):c.987C>A (p.Pro329=)	DHCR7 (P342Q +1 more)	Single nucleotide variant (synonymous variant +1 more)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2916641	NM_001360.3(DHCR7):c.964-14C>G	DHCR7 (P330A +1 more)	Single nucleotide variant (missense variant +1 more)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2915684	NM_001360.3(DHCR7):c.874C>T (p.Leu292=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2913675	NM_001360.3(DHCR7):c.37A>G (p.Lys13Glu)	DHCR7 (K13E)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 2913324	NM_001360.3(DHCR7):c.627-17T>A	DHCR7	Single nucleotide variant (intron variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2912257	NM_001360.3(DHCR7):c.360G>A (p.Lys120=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2911880	NM_001360.3(DHCR7):c.831+15T>C	DHCR7	Single nucleotide variant (intron variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2910804	NM_001360.3(DHCR7):c.757C>T (p.Leu253=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2910721	NM_001360.3(DHCR7):c.626+16C>A	DHCR7	Single nucleotide variant (intron variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2903969	NM_001360.3(DHCR7):c.1161G>A (p.Gly387=)	DHCR7 (G400D +1 more)	Single nucleotide variant (synonymous variant +1 more)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2900173	NM_001360.3(DHCR7):c.832-15G>A	DHCR7	Single nucleotide variant (intron variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2892471	NM_001360.3(DHCR7):c.138A>G (p.Leu46=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2892448	NM_001360.3(DHCR7):c.413-18T>C	DHCR7	Single nucleotide variant (intron variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2891077	NM_001360.3(DHCR7):c.321+15C>T	DHCR7	Single nucleotide variant (synonymous variant +1 more)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2889390	NM_001360.3(DHCR7):c.626+16C>T	DHCR7	Single nucleotide variant (intron variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2887060	NM_001360.3(DHCR7):c.201C>T (p.Ala67=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2886418	NM_001360.3(DHCR7):c.627-15A>G	DHCR7	Single nucleotide variant (intron variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2883701	NM_001360.3(DHCR7):c.651C>G (p.Tyr217Ter)	DHCR7 (Y217* +5 more)	Single nucleotide variant (nonsense)	Smith-Lemli-Opitz syndrome	GPathogenic
Select item 2880297	NM_001360.3(DHCR7):c.964-16C>T	DHCR7 (S329F +1 more)	Single nucleotide variant (missense variant +1 more)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2872676	NM_001360.3(DHCR7):c.76C>T (p.Gln26Ter)	DHCR7 (Q26*)	Single nucleotide variant (nonsense)	Smith-Lemli-Opitz syndrome	GPathogenic
Select item 2872412	NM_001360.3(DHCR7):c.624C>T (p.Asp208=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2871413	NM_001360.3(DHCR7):c.711G>A (p.Leu237=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2867101	NM_001360.3(DHCR7):c.1089C>T (p.Arg363=)	DHCR7 (A408V +1 more)	Single nucleotide variant (synonymous variant +1 more)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2859523	NM_001360.3(DHCR7):c.98+16G>A	DHCR7	Single nucleotide variant (intron variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2858814	NM_001360.3(DHCR7):c.626+8C>T	DHCR7	Single nucleotide variant (intron variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2858320	NM_001360.3(DHCR7):c.375C>A (p.Tyr125Ter)	DHCR7 (Y105* +4 more)	Single nucleotide variant (nonsense)	Smith-Lemli-Opitz syndrome	GPathogenic
Select item 2856392	NM_001360.3(DHCR7):c.99-20G>A	DHCR7	Single nucleotide variant (intron variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2854167	NM_001360.3(DHCR7):c.838T>G (p.Tyr280Asp)	DHCR7 (Y222D +5 more)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GLikely pathogenic
Select item 2853437	NM_001360.3(DHCR7):c.369C>A (p.Pro123=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2851354	NM_001360.3(DHCR7):c.1326C>T (p.His442=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2850177	NM_001360.3(DHCR7):c.963+19C>T	DHCR7	Single nucleotide variant (intron variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2850121	NM_001360.3(DHCR7):c.627-17T>G	DHCR7	Single nucleotide variant (intron variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2846970	NM_001360.3(DHCR7):c.507G>T (p.Ser169=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2844905	NM_001360.3(DHCR7):c.450C>A (p.Ala150=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2838436	NM_001360.3(DHCR7):c.381A>G (p.Gly127=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2838160	NM_001360.3(DHCR7):c.627-20C>G	DHCR7	Single nucleotide variant (intron variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2837033	NM_001360.3(DHCR7):c.322-17C>A	DHCR7	Single nucleotide variant (intron variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2836804	NM_001360.3(DHCR7):c.315C>T (p.Thr105=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2836604	NM_001360.3(DHCR7):c.1416T>A (p.Pro472=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2836043	NM_001360.3(DHCR7):c.1419A>T (p.Gly473=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2832350	NM_001360.3(DHCR7):c.322-15G>A	DHCR7	Single nucleotide variant (intron variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2831382	NM_001360.3(DHCR7):c.814C>T (p.Leu272=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2830940	NM_001360.3(DHCR7):c.695_701dup (p.Asp234delinsGluValTer)	DHCR7	Duplication (nonsense +1 more)	Smith-Lemli-Opitz syndrome	GPathogenic
Select item 2829355	NM_001360.3(DHCR7):c.375C>G (p.Tyr125Ter)	DHCR7 (Y137* +4 more)	Single nucleotide variant (nonsense)	Smith-Lemli-Opitz syndrome	GPathogenic
Select item 2826689	NM_001360.3(DHCR7):c.413-6C>A	DHCR7	Single nucleotide variant (intron variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2826021	NM_001360.3(DHCR7):c.412+16C>T	DHCR7	Single nucleotide variant (intron variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2823123	NM_001360.3(DHCR7):c.152C>T (p.Pro51Leu)	DHCR7 (P51L)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GLikely pathogenic
Select item 2822414	NM_001360.3(DHCR7):c.1050C>T (p.Ile350=)	DHCR7 (S395F +1 more)	Single nucleotide variant (synonymous variant +1 more)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2820023	NM_001360.3(DHCR7):c.926G>A (p.Gly309Asp)	DHCR7 (G277D +5 more)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GLikely pathogenic
Select item 2816191	NM_001360.3(DHCR7):c.105G>T (p.Val35=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2815506	NM_001360.3(DHCR7):c.187del (p.Gln63fs)	DHCR7 (Q63fs)	Deletion (frameshift variant)	Smith-Lemli-Opitz syndrome	GPathogenic
Select item 2813313	NM_001360.3(DHCR7):c.21C>A (p.Pro7=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2812732	NM_001360.3(DHCR7):c.904T>G (p.Phe302Val)	DHCR7 (F282V +5 more)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GLikely pathogenic
Select item 2811649	NM_001360.3(DHCR7):c.1356C>T (p.Ala452=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2810893	NM_001360.3(DHCR7):c.964-2A>C	DHCR7	Single nucleotide variant (synonymous variant +1 more)	Smith-Lemli-Opitz syndrome	GPathogenic
Select item 2810504	NM_001360.3(DHCR7):c.435C>A (p.Ile145=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2807878	NM_001360.3(DHCR7):c.573C>T (p.Val191=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2802483	NM_001360.3(DHCR7):c.1161G>T (p.Gly387=)	DHCR7 (G432V +1 more)	Single nucleotide variant (synonymous variant +1 more)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2802434	NM_001360.3(DHCR7):c.770C>G (p.Ala257Gly)	DHCR7 (A225G +5 more)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GPathogenic
Select item 2798881	NM_001360.3(DHCR7):c.1352G>T (p.Cys451Phe)	DHCR7 (C463F +5 more)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GLikely pathogenic
Select item 2798389	NM_001360.3(DHCR7):c.413-8A>T	DHCR7	Single nucleotide variant (intron variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2796217	NM_001360.3(DHCR7):c.99-17T>C	DHCR7	Single nucleotide variant (intron variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2795906	NM_001360.3(DHCR7):c.768A>G (p.Ala256=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2794379	NM_001360.3(DHCR7):c.930C>T (p.Asp310=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2793439	NM_001360.3(DHCR7):c.936C>G (p.Val312=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2793342	NM_001360.3(DHCR7):c.907G>C (p.Gly303Arg)	DHCR7 (G271R +5 more)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GPathogenic
Select item 2791702	NM_001360.3(DHCR7):c.964-12C>G	DHCR7	Single nucleotide variant (synonymous variant +1 more)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 2790179	NM_001360.3(DHCR7):c.1224C>G (p.Tyr408Ter)	DHCR7 (T421R +7 more)	Single nucleotide variant (nonsense +1 more)	Smith-Lemli-Opitz syndrome	GPathogenic
Select item 2789912	NM_001360.3(DHCR7):c.1399C>T (p.Pro467Ser)	DHCR7 (P409S +5 more)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GLikely pathogenic
Select item 2785310	NM_001360.3(DHCR7):c.748del (p.Leu250fs)	DHCR7 (L250fs)	Deletion (frameshift variant)	Smith-Lemli-Opitz syndrome	GPathogenic

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