ClinVar for MedGen (Select 340943) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245749	NC_000007.13:g.(?_4815347)_(5792630_?)del	ACTB, AP5Z1 +11 more	Deletion	Baraitser-Winter syndrome 1	GUncertain significance
Select item 3075720	NM_001101.5(ACTB):c.814T>C (p.Cys272Arg)	ACTB (C272R)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1	GLikely pathogenic
Select item 3075716	NM_001101.5(ACTB):c.355A>G (p.Met119Val)	ACTB (M119V)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1	GPathogenic
Select item 3061893	NM_001101.5(ACTB):c.68G>A (p.Gly23Asp)	ACTB (G23D)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1	GUncertain significance
Select item 3020477	NM_001101.5(ACTB):c.803-16C>T	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 3013715	NM_001101.5(ACTB):c.1094C>G (p.Ser365Cys)	ACTB (S365C)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1	GUncertain significance
Select item 3011106	NM_001101.5(ACTB):c.984+10T>C	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 3008264	NM_001101.5(ACTB):c.522C>T (p.Ala174=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 3007687	NM_001101.5(ACTB):c.966C>T (p.Pro322=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2999230	NM_001101.5(ACTB):c.363+8G>T	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2919778	NM_001101.5(ACTB):c.510C>T (p.Ala170=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2919777	NM_001101.5(ACTB):c.873A>G (p.Lys291=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2918337	NM_001101.5(ACTB):c.803-7C>G	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2918029	NM_001101.5(ACTB):c.124-14C>T	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2917849	NM_001101.5(ACTB):c.42C>G (p.Ser14=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2916387	NM_001101.5(ACTB):c.985-13C>T	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2912215	NM_001101.5(ACTB):c.803-6T>G	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2908608	NM_001101.5(ACTB):c.12T>C (p.Asp4=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2907116	NM_001101.5(ACTB):c.555G>C (p.Leu185=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2906892	NM_001101.5(ACTB):c.72C>T (p.Asp24=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2904350	NM_001101.5(ACTB):c.363+17C>T	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2902327	NM_001101.5(ACTB):c.213C>T (p.Ile71=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2901967	NM_001101.5(ACTB):c.582C>G (p.Thr194=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2893882	NM_001101.5(ACTB):c.393C>T (p.Ala131=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2893461	NM_001101.5(ACTB):c.886A>G (p.Asn296Asp)	ACTB (N296D)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1	GUncertain significance
Select item 2893389	NM_001101.5(ACTB):c.45C>T (p.Gly15=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GUncertain significance
Select item 2882351	NM_001101.5(ACTB):c.885C>T (p.Ala295=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2875503	NM_001101.5(ACTB):c.996T>G (p.Pro332=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2871249	NM_001101.5(ACTB):c.351G>A (p.Glu117=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2842305	NM_001101.5(ACTB):c.1109T>G (p.Val370Gly)	ACTB (V370G)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1	GUncertain significance
Select item 2830597	NM_001101.5(ACTB):c.772C>G (p.Pro258Ala)	ACTB (P258A)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1	GUncertain significance
Select item 2818607	NM_001101.5(ACTB):c.666_671del (p.Asp222_Phe223del)	ACTB	Deletion (inframe_deletion)	Baraitser-Winter syndrome 1	GUncertain significance
Select item 2818019	NM_001101.5(ACTB):c.276T>C (p.Asn92=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2814823	NM_001101.5(ACTB):c.364-3C>T	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GUncertain significance
Select item 2812809	NM_001101.5(ACTB):c.515C>G (p.Pro172Arg)	ACTB (P172R)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1	GUncertain significance
Select item 2811285	NM_001101.5(ACTB):c.124-18T>C	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2810155	NM_001101.5(ACTB):c.22C>G (p.Leu8Val)	ACTB (L8V)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1	GUncertain significance
Select item 2808380	NM_001101.5(ACTB):c.802+17dup	ACTB	Duplication (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2796886	NM_001101.5(ACTB):c.925A>T (p.Ile309Phe)	ACTB (I309F)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1	GUncertain significance
Select item 2779815	NM_001101.5(ACTB):c.27C>G (p.Val9=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2779444	NM_001101.5(ACTB):c.310C>T (p.Leu104=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2772669	NM_001101.5(ACTB):c.386C>T (p.Thr129Ile)	ACTB (T129I)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1	GUncertain significance
Select item 2762096	NM_001101.5(ACTB):c.984+10T>A	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2761601	NM_001101.5(ACTB):c.2T>G (p.Met1Arg)	ACTB (M1R)	Single nucleotide variant (missense variant +1 more)	Baraitser-Winter syndrome 1	GUncertain significance
Select item 2750509	NM_001101.5(ACTB):c.955G>A (p.Ala319Thr)	ACTB (A319T)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1	GUncertain significance
Select item 2750125	NM_001101.5(ACTB):c.136G>C (p.Gly46Arg)	ACTB (G46R)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1	GUncertain significance
Select item 2741610	NM_001101.5(ACTB):c.984+9C>T	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2738336	NM_001101.5(ACTB):c.948G>A (p.Glu316=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2738136	NM_001101.5(ACTB):c.802+13_802+19dup	ACTB	Duplication (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2732714	NM_001101.5(ACTB):c.27C>T (p.Val9=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2732042	NM_001101.5(ACTB):c.498C>T (p.Tyr166=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2730606	NM_001101.5(ACTB):c.495C>T (p.Ile165=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2729230	NM_001101.5(ACTB):c.177G>A (p.Gln59=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2728910	NM_001101.5(ACTB):c.525C>T (p.Ile175=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2727713	NM_001101.5(ACTB):c.364-11C>G	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2726934	NM_001101.5(ACTB):c.156C>G (p.Ser52=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2726165	NM_001101.5(ACTB):c.802+12C>T	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2723115	NM_001101.5(ACTB):c.124-8C>T	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2721207	NM_001101.5(ACTB):c.798C>T (p.Phe266=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2720285	NM_001101.5(ACTB):c.123+17G>A	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2719441	NM_001101.5(ACTB):c.294C>T (p.Pro98=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2717595	NM_001101.5(ACTB):c.891A>G (p.Thr297=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2715632	NM_001101.5(ACTB):c.102C>T (p.Ile34=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1 +1 more	GLikely benign
Select item 2714871	NM_001101.5(ACTB):c.813C>T (p.Ser271=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2714851	NM_001101.5(ACTB):c.123+17G>T	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2714775	NM_001101.5(ACTB):c.813C>G (p.Ser271=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2712568	NM_001101.5(ACTB):c.81C>A (p.Pro27=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2703587	NM_001101.5(ACTB):c.265A>G (p.Thr89Ala)	ACTB (T89A)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1	GUncertain significance
Select item 2701640	NM_001101.5(ACTB):c.120C>G (p.His40Gln)	ACTB (H40Q)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1	GUncertain significance
Select item 2700400	NM_001101.5(ACTB):c.601A>G (p.Thr201Ala)	ACTB (T201A)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1	GUncertain significance
Select item 2696688	NM_001101.5(ACTB):c.231C>T (p.Thr77=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2693728	NM_001101.5(ACTB):c.440G>A (p.Arg147His)	ACTB (R147H)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1	GUncertain significance
Select item 2657289	NM_001101.5(ACTB):c.24C>A (p.Leu8=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1 +1 more	GLikely benign
Select item 2445203	NM_001101.5(ACTB):c.220G>T (p.Gly74Cys)	ACTB (G74C)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1	GPathogenic
Select item 2442085	NM_001101.5(ACTB):c.1058A>C (p.Gln353Pro)	ACTB (Q353P)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1	GUncertain significance
Select item 2442032	NM_001101.5(ACTB):c.373G>A (p.Glu125Lys)	ACTB (E125K)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1	GUncertain significance
Select item 2431564	NM_001101.5(ACTB):c.898T>C (p.Ser300Pro)	ACTB (S300P)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1	GUncertain significance
Select item 2423708	NC_000007.13:g.(?_5567379)_(5568370_?)dup	ACTB	Duplication	Baraitser-Winter syndrome 1	GUncertain significance
Select item 2423707	NC_000007.13:g.(?_5567379)_(5569051_?)dup	ACTB	Duplication	Baraitser-Winter syndrome 1	GUncertain significance
Select item 2423706	NC_000007.13:g.(?_5567615)_(5569051_?)dup	ACTB	Duplication	Baraitser-Winter syndrome 1	GUncertain significance
Select item 2416981	NM_001101.5(ACTB):c.15C>T (p.Ile5=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2414510	NM_001101.5(ACTB):c.24C>T (p.Leu8=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2280571	NM_001101.5(ACTB):c.685A>G (p.Thr229Ala)	ACTB (T229A)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1 +1 more	GUncertain significance
Select item 2199658	NM_001101.5(ACTB):c.724C>T (p.Leu242=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2196037	NM_001101.5(ACTB):c.423C>T (p.Ser141=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2194811	NM_001101.5(ACTB):c.156C>T (p.Ser52=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2193778	NM_001101.5(ACTB):c.30C>T (p.Val10=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2191561	NM_001101.5(ACTB):c.516C>T (p.Pro172=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2191479	NM_001101.5(ACTB):c.890C>T (p.Thr297Ile)	ACTB (T297I)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1	GUncertain significance
Select item 2190162	NM_001101.5(ACTB):c.199C>T (p.Leu67=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2186816	NM_001101.5(ACTB):c.297G>A (p.Glu99=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2183313	NM_001101.5(ACTB):c.123+4G>A	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GUncertain significance
Select item 2181455	NM_001101.5(ACTB):c.802+18C>A	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2181057	NM_001101.5(ACTB):c.803-17C>T	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2180465	NM_001101.5(ACTB):c.985-16C>T	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2177739	NM_001101.5(ACTB):c.955G>T (p.Ala319Ser)	ACTB (A319S)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1	GUncertain significance
Select item 2174080	NM_001101.5(ACTB):c.984+19T>A	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2168136	NM_001101.5(ACTB):c.138C>T (p.Gly46=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GUncertain significance
Select item 2165699	NM_001101.5(ACTB):c.1047G>A (p.Leu349=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2159436	NM_001101.5(ACTB):c.511C>T (p.Leu171Phe)	ACTB (L171F)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1	GLikely pathogenic

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