"Ambry Genetics"[submitter] AND "BICRA"[gene] - 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 2545945	NM_001394372.1(BICRA):c.91A>G (p.Ser31Gly)	BICRA (S31G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2495986	NM_001394372.1(BICRA):c.251C>G (p.Ser84Cys)	BICRA (S84C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3133922	NM_001394372.1(BICRA):c.382C>T (p.Pro128Ser)	BICRA (P128S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2592235	NM_001394372.1(BICRA):c.656A>G (p.Asn219Ser)	BICRA (N219S)	Single nucleotide variant (missense variant)	BICRA-related condition +1 more	GConflicting classifications of pathogenicity
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 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 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 3133942	NM_001394372.1(BICRA):c.985C>T (p.Pro329Ser)	BICRA (P329S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3133869	NM_001394372.1(BICRA):c.1162C>T (p.Pro388Ser)	BICRA (P388S)	Single nucleotide variant (missense variant)	not specified	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 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 2546207	NM_001394372.1(BICRA):c.1429G>A (p.Ala477Thr)	BICRA (A477T)	Single nucleotide variant (missense variant)	not specified	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 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 2469509	NM_001394372.1(BICRA):c.1610A>C (p.His537Pro)	BICRA (H537P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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)	BICRA-related condition +1 more	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
Select item 3133878	NM_001394372.1(BICRA):c.1871C>T (p.Ala624Val)	BICRA (A624V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594593	NM_001394372.1(BICRA):c.1906C>T (p.Pro636Ser)	BICRA (P636S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133880	NM_001394372.1(BICRA):c.1943C>G (p.Pro648Arg)	BICRA (P648R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133879	NM_001394372.1(BICRA):c.1943C>A (p.Pro648Gln)	BICRA (P648Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043811	NM_001394372.1(BICRA):c.1973C>T (p.Pro658Leu)	BICRA (P658L)	Single nucleotide variant (missense variant)	BICRA-related condition +1 more	GConflicting classifications of pathogenicity
Select item 3133881	NM_001394372.1(BICRA):c.2012C>T (p.Ala671Val)	BICRA (A671V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568778	NM_001394372.1(BICRA):c.2060C>G (p.Pro687Arg)	BICRA (P687R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2594907	NM_001394372.1(BICRA):c.2063C>T (p.Thr688Met)	BICRA (T688M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593537	NM_001394372.1(BICRA):c.2063C>A (p.Thr688Lys)	BICRA (T688K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599129	NM_001394372.1(BICRA):c.2083T>G (p.Ser695Ala)	BICRA (S695A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549702	NM_001394372.1(BICRA):c.2093T>C (p.Met698Thr)	BICRA (M698T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480237	NM_001394372.1(BICRA):c.2097C>G (p.Phe699Leu)	BICRA (F699L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133883	NM_001394372.1(BICRA):c.2146C>G (p.Leu716Val)	BICRA (L716V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456227	NM_001394372.1(BICRA):c.2152G>A (p.Val718Met)	BICRA (V718M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133884	NM_001394372.1(BICRA):c.2182C>T (p.Pro728Ser)	BICRA (P728S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133885	NM_001394372.1(BICRA):c.2188G>A (p.Ala730Thr)	BICRA (A730T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133886	NM_001394372.1(BICRA):c.2197C>T (p.Pro733Ser)	BICRA (P733S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133887	NM_001394372.1(BICRA):c.2212C>A (p.Pro738Thr)	BICRA (P738T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596070	NM_001394372.1(BICRA):c.2216T>A (p.Val739Asp)	BICRA (V739D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133888	NM_001394372.1(BICRA):c.2223A>C (p.Lys741Asn)	BICRA (K741N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133889	NM_001394372.1(BICRA):c.2228C>G (p.Ala743Gly)	BICRA (A743G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133890	NM_001394372.1(BICRA):c.2255G>A (p.Ser752Asn)	BICRA (S752N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133891	NM_001394372.1(BICRA):c.2273C>T (p.Pro758Leu)	BICRA (P758L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133892	NM_001394372.1(BICRA):c.2279C>T (p.Pro760Leu)	BICRA (P760L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133893	NM_001394372.1(BICRA):c.2287C>G (p.Pro763Ala)	BICRA (P763A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133894	NM_001394372.1(BICRA):c.2294C>T (p.Ala765Val)	BICRA (A765V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536144	NM_001394372.1(BICRA):c.2347G>A (p.Ala783Thr)	BICRA (A783T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650173	NM_001394372.1(BICRA):c.2351C>T (p.Pro784Leu)	BICRA (P784L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2589434	NM_001394372.1(BICRA):c.2386C>G (p.Pro796Ala)	BICRA (P796A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1701688	NM_001394372.1(BICRA):c.2404C>T (p.Arg802Cys)	BICRA (R802C)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 12 +1 more	GUncertain significance
Select item 3133895	NM_001394372.1(BICRA):c.2471C>T (p.Pro824Leu)	BICRA (P824L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510775	NM_001394372.1(BICRA):c.2474C>T (p.Pro825Leu)	BICRA (P825L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133896	NM_001394372.1(BICRA):c.2477A>G (p.Gln826Arg)	BICRA (Q826R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133897	NM_001394372.1(BICRA):c.2500A>G (p.Ile834Val)	BICRA (I834V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3133898	NM_001394372.1(BICRA):c.2536C>T (p.Pro846Ser)	BICRA (P846S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512118	NM_001394372.1(BICRA):c.2603C>T (p.Pro868Leu)	BICRA (P868L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133899	NM_001394372.1(BICRA):c.2615C>A (p.Pro872Gln)	BICRA (P872Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650176	NM_001394372.1(BICRA):c.2618T>A (p.Leu873Gln)	BICRA (L873Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3133900	NM_001394372.1(BICRA):c.2632C>T (p.His878Tyr)	BICRA (H878Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458794	NM_001394372.1(BICRA):c.2681C>T (p.Thr894Met)	BICRA (T894M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133901	NM_001394372.1(BICRA):c.2699C>A (p.Ala900Asp)	BICRA (A900D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133902	NM_001394372.1(BICRA):c.2702C>T (p.Pro901Leu)	BICRA (P901L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588065	NM_001394372.1(BICRA):c.2713G>A (p.Asp905Asn)	BICRA (D905N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2480713	NM_001394372.1(BICRA):c.2762C>T (p.Thr921Ile)	BICRA (T921I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523933	NM_001394372.1(BICRA):c.2788C>T (p.Pro930Ser)	BICRA (P930S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133904	NM_001394372.1(BICRA):c.2795C>T (p.Pro932Leu)	BICRA (P932L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133905	NM_001394372.1(BICRA):c.2803C>A (p.Pro935Thr)	BICRA (P935T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617821	NM_001394372.1(BICRA):c.2842A>G (p.Thr948Ala)	BICRA (T948A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2555151	NM_001394372.1(BICRA):c.2918A>G (p.Gln973Arg)	BICRA (Q973R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133907	NM_001394372.1(BICRA):c.2948C>T (p.Pro983Leu)	BICRA (P983L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567046	NM_001394372.1(BICRA):c.3029C>T (p.Pro1010Leu)	BICRA (P1010L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2650180	NM_001394372.1(BICRA):c.3056C>T (p.Pro1019Leu)	BICRA (P1019L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2488900	NM_001394372.1(BICRA):c.3085C>T (p.Pro1029Ser)	BICRA (P1029S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556361	NM_001394372.1(BICRA):c.3094C>G (p.Pro1032Ala)	BICRA (P1032A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133908	NM_001394372.1(BICRA):c.3106A>G (p.Lys1036Glu)	BICRA (K1036E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133909	NM_001394372.1(BICRA):c.3220C>T (p.Pro1074Ser)	BICRA (P1074S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133910	NM_001394372.1(BICRA):c.3295G>A (p.Asp1099Asn)	BICRA (D1099N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133911	NM_001394372.1(BICRA):c.3316T>G (p.Ser1106Ala)	BICRA (S1106A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133912	NM_001394372.1(BICRA):c.3350A>T (p.Tyr1117Phe)	BICRA (Y1117F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531811	NM_001394372.1(BICRA):c.3451A>G (p.Met1151Val)	BICRA (M1151V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133913	NM_001394372.1(BICRA):c.3493-3C>T	BICRA, LOC121627883	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3133914	NM_001394372.1(BICRA):c.3509C>T (p.Ala1170Val)	BICRA, LOC121627883 (A1170V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133915	NM_001394372.1(BICRA):c.3526G>A (p.Asp1176Asn)	BICRA, LOC121627883 (D1176N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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