"Ambry Genetics"[submitter] AND "BCCIP"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2352278	NM_078468.3(BCCIP):c.10A>G (p.Arg4Gly)	BCCIP (R4G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288932	NM_078468.3(BCCIP):c.13T>C (p.Ser5Pro)	BCCIP (S5P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2314197	NM_078468.3(BCCIP):c.32A>G (p.Glu11Gly)	BCCIP (E11G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2474783	NM_078468.3(BCCIP):c.75C>G (p.Asp25Glu)	BCCIP (D25E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344287	NM_078468.3(BCCIP):c.88A>G (p.Lys30Glu)	BCCIP (K30E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133349	NM_078468.3(BCCIP):c.118G>A (p.Asp40Asn)	BCCIP (D40N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323133	NM_078468.3(BCCIP):c.173A>G (p.Asn58Ser)	BCCIP (N58S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133350	NM_078468.3(BCCIP):c.302A>G (p.His101Arg)	BCCIP (H101R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372340	NM_078468.3(BCCIP):c.452G>A (p.Arg151His)	BCCIP (R151H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268838	NM_078468.3(BCCIP):c.620A>C (p.His207Pro)	BCCIP (H207P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601663	NM_078468.3(BCCIP):c.720C>G (p.Asn240Lys)	BCCIP (N240K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469307	NM_078468.3(BCCIP):c.733G>A (p.Ala245Thr)	BCCIP (A245T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343186	NM_078468.3(BCCIP):c.734C>T (p.Ala245Val)	BCCIP (A245V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1916539	NM_018180.3(DHX32):c.2222C>A (p.Thr741Asn)	BCCIP, DHX32 (T741N)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1363090	NM_018180.3(DHX32):c.2209G>C (p.Glu737Gln)	BCCIP, DHX32 (E737Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1363742	NM_018180.3(DHX32):c.2182C>G (p.Gln728Glu)	BCCIP, DHX32 (Q728E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2528045	NM_018180.3(DHX32):c.2172T>A (p.Asn724Lys)	BCCIP, DHX32 (N724K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1446057	NM_018180.3(DHX32):c.2143G>T (p.Asp715Tyr)	BCCIP, DHX32 (D715Y)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2604606	NM_018180.3(DHX32):c.2090A>G (p.Tyr697Cys)	BCCIP, DHX32 (Y697C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082192	NM_018180.3(DHX32):c.2083C>G (p.Gln695Glu)	BCCIP, DHX32 (Q695E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2073977	NM_018180.3(DHX32):c.2018C>T (p.Ser673Phe)	BCCIP, DHX32 (S673F)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2492295	NM_018180.3(DHX32):c.1985C>T (p.Pro662Leu)	BCCIP, DHX32 (P662L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2477968	NM_018180.3(DHX32):c.1939G>A (p.Ala647Thr)	BCCIP, DHX32 (A647T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082190	NM_018180.3(DHX32):c.1928A>G (p.His643Arg)	BCCIP, DHX32 (H643R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209815	NM_018180.3(DHX32):c.1855G>A (p.Ala619Thr)	BCCIP, DHX32 (A619T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2269898	NM_018180.3(DHX32):c.1802C>T (p.Pro601Leu)	BCCIP, DHX32 (P601L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1984851	NM_018180.3(DHX32):c.1760T>A (p.Ile587Asn)	BCCIP, DHX32 (I587N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2139673	NM_018180.3(DHX32):c.1754A>C (p.Asp585Ala)	BCCIP, DHX32 (D585A)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1446182	NM_018180.3(DHX32):c.1714C>T (p.Arg572Cys)	DHX32, BCCIP (R572C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1923320	NM_018180.3(DHX32):c.1562A>G (p.His521Arg)	BCCIP, DHX32 (H521R)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3082188	NM_018180.3(DHX32):c.1537G>T (p.Val513Leu)	BCCIP, DHX32 (V513L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1504761	NM_018180.3(DHX32):c.1528G>A (p.Ala510Thr)	BCCIP, DHX32 (A510T)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 2226022	NM_018180.3(DHX32):c.1417A>C (p.Asn473His)	BCCIP, DHX32 (N473H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2712114	NM_018180.3(DHX32):c.1344C>G (p.Asn448Lys)	BCCIP, DHX32 (N448K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2016564	NM_018180.3(DHX32):c.1172T>C (p.Ile391Thr)	BCCIP, DHX32 (I391T)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2274686	NM_018180.3(DHX32):c.1160T>C (p.Ile387Thr)	BCCIP, DHX32 (I387T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2274685	NM_018180.3(DHX32):c.1158G>T (p.Glu386Asp)	BCCIP, DHX32 (E386D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541755	NM_018180.3(DHX32):c.1102C>T (p.Pro368Ser)	BCCIP, DHX32 (P368S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 38