ClinVar for MedGen (Select 381473) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3023851	NM_000751.3(CHRND):c.1422G>A (p.Leu474=)	CHRND	Single nucleotide variant (synonymous variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 3020959	NM_000751.3(CHRND):c.199-13C>T	CHRND	Single nucleotide variant (intron variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 3020119	NM_000751.3(CHRND):c.1252+9C>A	CHRND	Single nucleotide variant (intron variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 3016296	NM_000079.4(CHRNA1):c.1170C>T (p.Pro390=)	CHRNA1	Single nucleotide variant (synonymous variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 3015987	NM_000079.4(CHRNA1):c.661A>G (p.Ile221Val)	CHRNA1 (I221V +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 3013919	NM_000751.3(CHRND):c.820+13G>T	CHRND	Single nucleotide variant (intron variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 3011044	NM_000751.3(CHRND):c.385T>C (p.Cys129Arg)	CHRND (C28R +2 more)	Single nucleotide variant (missense variant +1 more)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 3003364	NM_000751.3(CHRND):c.1088G>C (p.Arg363Pro)	CHRND (R169P +3 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 3000320	NM_000079.4(CHRNA1):c.279C>G (p.Gly93=)	CHRNA1	Single nucleotide variant (synonymous variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2998813	NM_000751.3(CHRND):c.1371+17T>C	CHRND	Single nucleotide variant (intron variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2996366	NM_000751.3(CHRND):c.1480T>A (p.Tyr494Asn)	CHRND (Y300N +3 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2992568	NM_000079.4(CHRNA1):c.860C>G (p.Thr287Arg)	CHRNA1 (T312R +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2991689	NM_000079.4(CHRNA1):c.1282C>A (p.His428Asn)	CHRNA1 (H428N +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2985987	NM_000751.3(CHRND):c.820+17C>T	CHRND	Single nucleotide variant (intron variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2979756	NM_000079.4(CHRNA1):c.1137C>T (p.Pro379=)	CHRNA1	Single nucleotide variant (synonymous variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2977093	NM_000079.4(CHRNA1):c.274T>A (p.Tyr92Asn)	CHRNA1 (Y92N +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2972548	NM_000751.3(CHRND):c.1435C>A (p.Pro479Thr)	CHRND (P479T +3 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2971437	NM_000751.3(CHRND):c.481G>A (p.Asp161Asn)	CHRND (D146N +2 more)	Single nucleotide variant (missense variant +1 more)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2968059	NM_000079.4(CHRNA1):c.585G>A (p.Glu195=)	CHRNA1	Single nucleotide variant (synonymous variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2961488	NM_000079.4(CHRNA1):c.1231G>A (p.Glu411Lys)	CHRNA1 (E411K +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2960033	NM_000751.3(CHRND):c.1528A>G (p.Asn510Asp)	CHRND (N510D +3 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2920290	NM_000079.4(CHRNA1):c.190-12T>A	CHRNA1	Single nucleotide variant (intron variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2919687	NM_000079.4(CHRNA1):c.1011C>T (p.Ile337=)	CHRNA1	Single nucleotide variant (synonymous variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2918296	NM_000751.3(CHRND):c.312C>G (p.Pro104=)	CHRND (P14R)	Single nucleotide variant (missense variant +1 more)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2917834	NM_000751.3(CHRND):c.691C>T (p.Pro231Ser)	CHRND (P231S +2 more)	Single nucleotide variant (missense variant +1 more)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2914132	NM_000751.3(CHRND):c.709A>T (p.Thr237Ser)	CHRND (T222S +2 more)	Single nucleotide variant (missense variant +1 more)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2910660	NM_000079.4(CHRNA1):c.484T>A (p.Cys162Ser)	CHRNA1 (C187S +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2909364	NM_000079.4(CHRNA1):c.235-8G>T	CHRNA1	Single nucleotide variant (intron variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2909299	NM_000079.4(CHRNA1):c.344+15T>C	CHRNA1	Single nucleotide variant (intron variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2905748	NM_000751.3(CHRND):c.982G>T (p.Val328Phe)	CHRND (V134F +3 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2904613	NM_000751.3(CHRND):c.731G>A (p.Arg244His)	CHRND (R143H +2 more)	Single nucleotide variant (missense variant +1 more)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2902673	NM_000079.4(CHRNA1):c.416C>T (p.Thr139Ile)	CHRNA1 (T164I +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2902198	NM_000079.4(CHRNA1):c.591G>A (p.Val197=)	CHRNA1	Single nucleotide variant (synonymous variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2901459	NM_000751.3(CHRND):c.1399C>T (p.Arg467Cys)	CHRND (R467C +3 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2900384	NM_000751.3(CHRND):c.1047+3G>A	CHRND	Single nucleotide variant (intron variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2899586	NM_000751.3(CHRND):c.340G>C (p.Val114Leu)	CHRND (L23F +2 more)	Single nucleotide variant (missense variant +1 more)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2899436	NM_000751.3(CHRND):c.170C>T (p.Ala57Val)	CHRND (A57V)	Single nucleotide variant (missense variant +1 more)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2899434	NM_000079.4(CHRNA1):c.717C>T (p.Ile239=)	CHRNA1	Single nucleotide variant (synonymous variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2896142	NM_000079.4(CHRNA1):c.1262A>G (p.Tyr421Cys)	CHRNA1 (Y421C +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2895475	NM_000751.3(CHRND):c.41T>G (p.Leu14Arg)	CHRND (L14R)	Single nucleotide variant (missense variant +1 more)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2892185	NM_000751.3(CHRND):c.52+18C>G	CHRND	Single nucleotide variant (intron variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2891359	NM_000751.3(CHRND):c.993C>T (p.Leu331=)	CHRND	Single nucleotide variant (synonymous variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2890544	NM_000751.3(CHRND):c.1252+16T>A	CHRND	Single nucleotide variant (intron variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2886625	NM_000079.4(CHRNA1):c.556G>T (p.Asp186Tyr)	CHRNA1 (D186Y +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2886095	NM_000751.3(CHRND):c.510-17C>A	CHRND	Single nucleotide variant (intron variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2882793	NM_000079.4(CHRNA1):c.1003-8dup	CHRNA1	Duplication (intron variant)	Lethal multiple pterygium syndrome	GBenign
Select item 2882144	NM_000079.4(CHRNA1):c.1215C>A (p.Thr405=)	CHRNA1	Single nucleotide variant (synonymous variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2877960	NM_000751.3(CHRND):c.1494A>G (p.Pro498=)	CHRND	Single nucleotide variant (synonymous variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2875313	NM_000079.4(CHRNA1):c.1002G>A (p.Lys334=)	CHRNA1	Single nucleotide variant (synonymous variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2873829	NM_000751.3(CHRND):c.1123G>T (p.Val375Leu)	CHRND (V360L +3 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2870351	NM_000079.4(CHRNA1):c.827T>C (p.Phe276Ser)	CHRNA1 (F276S +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2862523	NM_000079.4(CHRNA1):c.235-20C>T	CHRNA1	Single nucleotide variant (intron variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2860266	NM_000079.4(CHRNA1):c.344+17G>C	CHRNA1	Single nucleotide variant (intron variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2859967	NM_000079.4(CHRNA1):c.1267G>A (p.Ala423Thr)	CHRNA1 (A423T +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2856445	NM_000751.3(CHRND):c.364T>C (p.Ser122Pro)	CHRND (S107P +2 more)	Single nucleotide variant (missense variant +1 more)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2854790	NM_000751.3(CHRND):c.1252C>G (p.Arg418Gly)	CHRND (R418G +3 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2854311	NM_000751.3(CHRND):c.821-5C>A	CHRND	Single nucleotide variant (intron variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2850946	NM_000751.3(CHRND):c.1238G>A (p.Arg413His)	CHRND (R398H +3 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2850811	NM_000751.3(CHRND):c.932+17C>A	CHRND	Single nucleotide variant (intron variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2848666	NM_000751.3(CHRND):c.1482C>T (p.Tyr494=)	CHRND	Single nucleotide variant (synonymous variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2844599	NM_000079.4(CHRNA1):c.654C>T (p.Tyr218=)	CHRNA1	Single nucleotide variant (synonymous variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2843903	NM_000751.3(CHRND):c.36del (p.Ala13fs)	CHRND (A13fs)	Deletion (frameshift variant +1 more)	Lethal multiple pterygium syndrome	GPathogenic
Select item 2841913	NM_000079.4(CHRNA1):c.284T>A (p.Val95Glu)	CHRNA1 (V120E +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2836074	NM_000751.3(CHRND):c.468C>G (p.Thr156=)	CHRND (P66R)	Single nucleotide variant (synonymous variant +1 more)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2834268	NM_000751.3(CHRND):c.509+18G>A	CHRND	Single nucleotide variant (intron variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2832874	NM_000751.3(CHRND):c.933-7C>T	CHRND	Single nucleotide variant (intron variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2822198	NM_000079.4(CHRNA1):c.1196T>C (p.Ile399Thr)	CHRNA1 (I424T +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2816007	NM_000751.3(CHRND):c.1523C>G (p.Ser508Cys)	CHRND (S314C +3 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2814679	NM_000079.4(CHRNA1):c.155C>T (p.Thr52Ile)	CHRNA1 (T52I)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2811355	NM_000079.4(CHRNA1):c.424G>T (p.Ala142Ser)	CHRNA1 (A167S +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2810374	NM_000079.4(CHRNA1):c.1348C>T (p.Leu450Phe)	CHRNA1 (L450F +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2809855	NM_000751.3(CHRND):c.725T>C (p.Ile242Thr)	CHRND (I141T +2 more)	Single nucleotide variant (missense variant +1 more)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2809513	NM_000751.3(CHRND):c.492C>G (p.Asn164Lys)	CHRND (N149K +3 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2808204	NM_000751.3(CHRND):c.1223A>G (p.His408Arg)	CHRND (H393R +3 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2806329	NM_000751.3(CHRND):c.933-19G>A	CHRND	Single nucleotide variant (intron variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2805329	NM_000079.4(CHRNA1):c.1055C>T (p.Pro352Leu)	CHRNA1 (P377L +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2801293	NM_000751.3(CHRND):c.1072C>T (p.Leu358Phe)	CHRND (L257F +3 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2799365	NM_000751.3(CHRND):c.53-15G>A	CHRND	Single nucleotide variant (intron variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2799130	NM_000751.3(CHRND):c.1436C>G (p.Pro479Arg)	CHRND (P285R +3 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2797087	NM_000751.3(CHRND):c.244-18A>T	CHRND	Single nucleotide variant (intron variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2789330	NM_000079.4(CHRNA1):c.141G>A (p.Gln47=)	CHRNA1	Single nucleotide variant (synonymous variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2786237	NM_000751.3(CHRND):c.107A>G (p.Lys36Arg)	CHRND (K36R)	Single nucleotide variant (missense variant +1 more)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2784230	NM_000079.4(CHRNA1):c.1068G>A (p.Lys356=)	CHRNA1	Single nucleotide variant (synonymous variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2780118	NM_000079.4(CHRNA1):c.541-13C>T	CHRNA1	Single nucleotide variant (intron variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2778891	NM_000751.3(CHRND):c.1252C>T (p.Arg418Cys)	CHRND (R317C +3 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2771436	NM_000079.4(CHRNA1):c.1307T>C (p.Leu436Pro)	CHRNA1 (L436P +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2769562	NM_000079.4(CHRNA1):c.530C>T (p.Ala177Val)	CHRNA1 (A177V +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2768413	NM_000751.3(CHRND):c.1167G>T (p.Glu389Asp)	CHRND (E195D +3 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2766033	NM_000751.3(CHRND):c.784_786del (p.Phe262del)	CHRND (F262del +2 more)	Deletion (inframe_deletion +1 more)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2764585	NM_000079.4(CHRNA1):c.411G>A (p.Thr137=)	CHRNA1	Single nucleotide variant (synonymous variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2761378	NM_000079.4(CHRNA1):c.540+16A>C	CHRNA1	Single nucleotide variant (intron variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2759649	NM_000751.3(CHRND):c.528C>T (p.Ala176=)	CHRND	Single nucleotide variant (synonymous variant +1 more)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2756773	NM_000079.4(CHRNA1):c.778+2T>A	CHRNA1	Single nucleotide variant (splice donor variant)	Lethal multiple pterygium syndrome	GLikely pathogenic
Select item 2755256	NM_000079.4(CHRNA1):c.1206C>A (p.Ile402=)	CHRNA1	Single nucleotide variant (synonymous variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2752940	NM_000079.4(CHRNA1):c.540+17T>A	CHRNA1	Single nucleotide variant (intron variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2750105	NM_000751.3(CHRND):c.772G>A (p.Val258Met)	CHRND (V157M +2 more)	Single nucleotide variant (missense variant +1 more)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2749433	NM_000079.4(CHRNA1):c.459C>T (p.Thr153=)	CHRNA1	Single nucleotide variant (synonymous variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2741251	NM_000079.4(CHRNA1):c.435A>T (p.Lys145Asn)	CHRNA1 (K145N +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 2740866	NM_000751.3(CHRND):c.821-19C>T	CHRND	Single nucleotide variant (intron variant)	Lethal multiple pterygium syndrome	GLikely benign
Select item 2739921	NM_000079.4(CHRNA1):c.1079del (p.Lys360fs)	CHRNA1 (K360fs +1 more)	Deletion (frameshift variant)	Lethal multiple pterygium syndrome	GPathogenic

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