BICRA[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2592312	NM_001394372.1(BICRA):c.42T>C (p.Cys14=)	BICRA	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2650158	NM_001394372.1(BICRA):c.78C>T (p.Ser26=)	BICRA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1682845	NM_001394372.1(BICRA):c.88G>C (p.Asp30His)	BICRA (D30H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2545945	NM_001394372.1(BICRA):c.91A>G (p.Ser31Gly)	BICRA (S31G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1682846	NM_001394372.1(BICRA):c.99CCT[1] (p.Leu35del)	BICRA (L35del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1335354	NM_001394372.1(BICRA):c.102C>T (p.Leu34=)	BICRA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3133868	NM_001394372.1(BICRA):c.115G>A (p.Gly39Arg)	BICRA (G39R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603100	NM_001394372.1(BICRA):c.137A>G (p.Tyr46Cys)	BICRA (Y46C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2430189	NM_001394372.1(BICRA):c.145C>T (p.Pro49Ser)	BICRA (P49S)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 12	GUncertain significance
Select item 1342756	NM_001394372.1(BICRA):c.151-10C>T	BICRA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1106681	NM_001394372.1(BICRA):c.192G>C (p.Glu64Asp)	BICRA (E64D)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 12	GPathogenic
Select item 2495986	NM_001394372.1(BICRA):c.251C>G (p.Ser84Cys)	BICRA (S84C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2630247	NM_001394372.1(BICRA):c.262G>A (p.Gly88Arg)	BICRA (G88R)	Single nucleotide variant (missense variant)	BICRA-related disorder	GUncertain significance
Select item 3040595	NM_001394372.1(BICRA):c.271G>A (p.Gly91Ser)	BICRA (G91S)	Single nucleotide variant (missense variant)	BICRA-related disorder	GLikely benign
Select item 3133903	NM_001394372.1(BICRA):c.274G>A (p.Gly92Arg)	BICRA (G92R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468319	NM_001394372.1(BICRA):c.290C>T (p.Ala97Val)	BICRA (A97V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688669	NM_001394372.1(BICRA):c.334A>G (p.Asn112Asp)	BICRA (N112D)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 12	GUncertain significance
Select item 2579920	NM_001394372.1(BICRA):c.337A>G (p.Ile113Val)	BICRA (I113V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1327278	NM_001394372.1(BICRA):c.338T>G (p.Ile113Ser)	BICRA (I113S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1682847	NM_001394372.1(BICRA):c.350C>T (p.Thr117Met)	BICRA (T117M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1279704	NM_001394372.1(BICRA):c.360C>T (p.Ala120=)	BICRA	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2672775	NM_001394372.1(BICRA):c.361G>C (p.Glu121Gln)	BICRA (E121Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3133922	NM_001394372.1(BICRA):c.382C>T (p.Pro128Ser)	BICRA (P128S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1308646	NM_001394372.1(BICRA):c.386_401del (p.Phe129fs)	BICRA (F129fs)	Deletion (frameshift variant)	Coffin-Siris syndrome 12	GLikely pathogenic
Select item 2619533	NM_001394372.1(BICRA):c.410C>T (p.Ala137Val)	BICRA (A137V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133936	NM_001394372.1(BICRA):c.452C>G (p.Ala151Gly)	BICRA (A151G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1315590	NM_001394372.1(BICRA):c.458C>T (p.Ala153Val)	BICRA (A153V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578835	NM_001394372.1(BICRA):c.492C>T (p.Thr164=)	BICRA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1682848	NM_001394372.1(BICRA):c.515C>T (p.Pro172Leu)	BICRA (P172L)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 12 +2 more	GUncertain significance
Select item 1262228	NM_001394372.1(BICRA):c.519T>C (p.Pro173=)	BICRA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1218902	NM_001394372.1(BICRA):c.535C>T (p.Gln179Ter)	BICRA (Q179*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2650159	NM_001394372.1(BICRA):c.610G>C (p.Gly204Arg)	BICRA (G204R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1878946	NM_001394372.1(BICRA):c.635C>T (p.Pro212Leu)	BICRA (P212L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504582	NM_001394372.1(BICRA):c.639_669del (p.Leu214fs)	BICRA (L214fs)	Deletion (frameshift variant)	Coffin-Siris syndrome 12	GPathogenic
Select item 2592235	NM_001394372.1(BICRA):c.656A>G (p.Asn219Ser)	BICRA (N219S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1238835	NM_001394372.1(BICRA):c.687A>G (p.Thr229=)	BICRA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2574298	NM_001394372.1(BICRA):c.692G>C (p.Gly231Ala)	BICRA (G231A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2544495	NM_001394372.1(BICRA):c.722C>G (p.Pro241Arg)	BICRA (P241R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133939	NM_001394372.1(BICRA):c.758T>C (p.Leu253Pro)	BICRA (L253P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133940	NM_001394372.1(BICRA):c.760G>A (p.Ala254Thr)	BICRA (A254T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2577644	NM_001394372.1(BICRA):c.769G>C (p.Val257Leu)	BICRA (V257L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505184	NM_001394372.1(BICRA):c.797C>T (p.Ala266Val)	BICRA (A266V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 996777	NM_001394372.1(BICRA):c.868C>T (p.Gln290Ter)	BICRA (Q290*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2650160	NM_001394372.1(BICRA):c.901C>T (p.Leu301Phe)	BICRA (L301F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1806555	NM_001394372.1(BICRA):c.905A>G (p.Asn302Ser)	BICRA (N302S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2650161	NM_001394372.1(BICRA):c.915T>C (p.Ser305=)	BICRA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1012211	NM_001394372.1(BICRA):c.936del (p.Ala313fs)	BICRA (A313fs)	Deletion (frameshift variant)	BICRA-related disorder	GUncertain significance
Select item 2688668	NM_001394372.1(BICRA):c.937G>C (p.Ala313Pro)	BICRA (A313P)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1878923	NM_001394372.1(BICRA):c.971C>T (p.Pro324Leu)	BICRA (P324L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708048	NM_001394372.1(BICRA):c.974_987dup (p.Gly330fs)	BICRA (G330fs)	Duplication (frameshift variant)	Coffin-Siris syndrome 12	GPathogenic
Select item 3133942	NM_001394372.1(BICRA):c.985C>T (p.Pro329Ser)	BICRA (P329S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650162	NM_001394372.1(BICRA):c.993C>T (p.Leu331=)	BICRA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2604066	NM_001394372.1(BICRA):c.1010T>C (p.Val337Ala)	BICRA (V337A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133866	NM_001394372.1(BICRA):c.1016C>T (p.Ala339Val)	BICRA (A339V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133867	NM_001394372.1(BICRA):c.1018C>T (p.Pro340Ser)	BICRA (P340S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495359	NM_001394372.1(BICRA):c.1072G>C (p.Val358Leu)	BICRA (V358L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1694930	NM_001394372.1(BICRA):c.1080G>A (p.Pro360=)	BICRA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636393	NM_001394372.1(BICRA):c.1096C>G (p.Leu366Val)	BICRA (L366V)	Single nucleotide variant (missense variant)	BICRA-related disorder	GUncertain significance
Select item 1335355	NM_001394372.1(BICRA):c.1146C>T (p.Gly382=)	BICRA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3133869	NM_001394372.1(BICRA):c.1162C>T (p.Pro388Ser)	BICRA (P388S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3030757	NM_001394372.1(BICRA):c.1181C>A (p.Pro394Gln)	BICRA (P394Q)	Single nucleotide variant (missense variant)	BICRA-related disorder	GUncertain significance
Select item 2573722	NM_001394372.1(BICRA):c.1181C>T (p.Pro394Leu)	BICRA (P394L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2621540	NM_001394372.1(BICRA):c.1198A>G (p.Met400Val)	BICRA (M400V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650163	NM_001394372.1(BICRA):c.1206G>T (p.Ala402=)	BICRA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2692500	NM_001394372.1(BICRA):c.1214_1215insT (p.Gln407fs)	BICRA (Q407fs)	Insertion (frameshift variant)	Coffin-Siris syndrome 12	GPathogenic
Select item 1810186	NM_001394372.1(BICRA):c.1224C>A (p.Asn408Lys)	BICRA (N408K)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 12 +1 more	GUncertain significance
Select item 3234883	NM_001394372.1(BICRA):c.1225G>T (p.Val409Leu)	BICRA (V409L)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 12	GUncertain significance
Select item 2503233	NM_001394372.1(BICRA):c.1244C>G (p.Pro415Arg)	BICRA (P415R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500607	NM_001394372.1(BICRA):c.1292C>T (p.Thr431Ile)	BICRA (T431I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2555062	NM_001394372.1(BICRA):c.1309C>T (p.Pro437Ser)	BICRA (P437S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650164	NM_001394372.1(BICRA):c.1321G>A (p.Gly441Arg)	BICRA (G441R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2003711	NM_001394372.1(BICRA):c.1364G>A (p.Gly455Asp)	BICRA (G455D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1686503	NM_001394372.1(BICRA):c.1381C>A (p.Pro461Thr)	BICRA (P461T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1704040	NM_001394372.1(BICRA):c.1393A>G (p.Met465Val)	BICRA (M465V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1344996	NM_001394372.1(BICRA):c.1399C>T (p.Pro467Ser)	BICRA (P467S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2546207	NM_001394372.1(BICRA):c.1429G>A (p.Ala477Thr)	BICRA (A477T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2650165	NM_001394372.1(BICRA):c.1476C>T (p.Asn492=)	BICRA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3133870	NM_001394372.1(BICRA):c.1507C>G (p.Pro503Ala)	BICRA (P503A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1801369	NM_001394372.1(BICRA):c.1509_1510insA (p.His504fs)	BICRA (H504fs)	Insertion (frameshift variant)	Coffin-Siris syndrome 12	GLikely pathogenic
Select item 3133871	NM_001394372.1(BICRA):c.1510C>T (p.His504Tyr)	BICRA (H504Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133872	NM_001394372.1(BICRA):c.1552C>G (p.Gln518Glu)	BICRA (Q518E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133873	NM_001394372.1(BICRA):c.1597C>A (p.His533Asn)	BICRA (H533N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2571050	NM_001394372.1(BICRA):c.1602C>A (p.Ser534=)	BICRA	Single nucleotide variant (synonymous variant)	BICRA-related disorder +1 more	GLikely benign
Select item 2469509	NM_001394372.1(BICRA):c.1610A>C (p.His537Pro)	BICRA (H537P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1709595	NM_001394372.1(BICRA):c.1614C>A (p.Ser538Arg)	BICRA (S538R)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 12	GUncertain significance
Select item 2635769	NM_001394372.1(BICRA):c.1624C>T (p.Leu542Phe)	BICRA (L542F)	Single nucleotide variant (missense variant)	BICRA-related disorder	GUncertain significance
Select item 2672776	NM_001394372.1(BICRA):c.1632C>T (p.Ala544=)	BICRA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2504857	NM_001394372.1(BICRA):c.1639A>T (p.Ile547Phe)	BICRA (I547F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2629980	NM_001394372.1(BICRA):c.1654C>T (p.Pro552Ser)	BICRA (P552S)	Single nucleotide variant (missense variant)	BICRA-related disorder	GUncertain significance
Select item 2499723	NM_001394372.1(BICRA):c.1671G>T (p.Met557Ile)	BICRA (M557I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1686556	NM_001394372.1(BICRA):c.1707G>C (p.Gln569His)	BICRA (Q569H)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2650166	NM_001394372.1(BICRA):c.1725C>T (p.Ala575=)	BICRA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025284	NM_001394372.1(BICRA):c.1767C>T (p.Pro589=)	BICRA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3133874	NM_001394372.1(BICRA):c.1777G>A (p.Val593Met)	BICRA (V593M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133875	NM_001394372.1(BICRA):c.1789A>G (p.Asn597Asp)	BICRA (N597D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2637389	NM_001394372.1(BICRA):c.1796C>T (p.Pro599Leu)	BICRA (P599L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2412985	NM_001394372.1(BICRA):c.1828G>T (p.Ala610Ser)	BICRA (A610S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3133876	NM_001394372.1(BICRA):c.1837G>A (p.Gly613Arg)	BICRA (G613R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518498	NM_001394372.1(BICRA):c.1855C>T (p.Leu619Phe)	BICRA (L619F)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3133877	NM_001394372.1(BICRA):c.1859C>A (p.Thr620Lys)	BICRA (T620K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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