"Ambry Genetics"[submitter] AND "AGBL5"[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3095277	NM_021831.6(AGBL5):c.32G>A (p.Ser11Asn)	AGBL5 (S11N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2542578	NM_021831.6(AGBL5):c.89G>A (p.Ser30Asn)	AGBL5 (S30N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1000266	NM_021831.6(AGBL5):c.226T>C (p.Tyr76His)	AGBL5 (Y76H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 967211	NM_021831.6(AGBL5):c.239G>A (p.Arg80Gln)	AGBL5 (R80Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 836411	NM_021831.6(AGBL5):c.258A>T (p.Lys86Asn)	AGBL5 (K86N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2236773	NM_021831.6(AGBL5):c.307T>G (p.Ser103Ala)	AGBL5 (S103A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1038147	NM_021831.6(AGBL5):c.331C>T (p.Arg111Cys)	AGBL5 (R111C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2520502	NM_021831.6(AGBL5):c.424C>T (p.Arg142Cys)	AGBL5 (R142C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1481269	NM_021831.6(AGBL5):c.439C>G (p.Arg147Gly)	AGBL5 (R147G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1393377	NM_021831.6(AGBL5):c.440G>A (p.Arg147His)	AGBL5 (R147H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 871081	NM_021831.6(AGBL5):c.527C>T (p.Pro176Leu)	AGBL5 (P176L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2467082	NM_021831.6(AGBL5):c.578G>A (p.Arg193Gln)	AGBL5 (R193Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 935500	NM_021831.6(AGBL5):c.608T>G (p.Leu203Arg)	AGBL5 (L203R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3095290	NM_021831.6(AGBL5):c.610C>T (p.Arg204Cys)	AGBL5 (R204C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 964407	NM_021831.6(AGBL5):c.611G>A (p.Arg204His)	AGBL5 (R204H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2620764	NM_021831.6(AGBL5):c.907C>T (p.Arg303Cys)	AGBL5 (R303C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2313417	NM_021831.6(AGBL5):c.1048C>T (p.His350Tyr)	AGBL5 (H350Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1525355	NM_021831.6(AGBL5):c.1108A>C (p.Asn370His)	AGBL5 (N370H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3095185	NM_021831.6(AGBL5):c.1128G>C (p.Gln376His)	AGBL5 (Q376H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1034768	NM_021831.6(AGBL5):c.1264C>G (p.Pro422Ala)	AGBL5 (P422A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3095190	NM_021831.6(AGBL5):c.1300C>T (p.His434Tyr)	AGBL5 (H434Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 942623	NM_021831.6(AGBL5):c.1460G>A (p.Arg487Gln)	AGBL5 (R487Q)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2518893	NM_021831.6(AGBL5):c.1511A>G (p.Tyr504Cys)	AGBL5 (Y504C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 943364	NM_021831.6(AGBL5):c.1567C>T (p.Arg523Cys)	AGBL5 (R523C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 835951	NM_021831.6(AGBL5):c.1604A>G (p.Asn535Ser)	AGBL5 (N535S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3275701	NM_021831.6(AGBL5):c.1609C>T (p.Arg537Cys)	AGBL5 (R537C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2379645	NM_021831.6(AGBL5):c.1615A>C (p.Ser539Arg)	AGBL5 (S539R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1061722	NM_021831.6(AGBL5):c.1684A>C (p.Met562Leu)	AGBL5 (M562L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3095201	NM_021831.6(AGBL5):c.1694C>T (p.Ala565Val)	AGBL5 (A565V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 855712	NM_021831.6(AGBL5):c.1754G>A (p.Ser585Asn)	AGBL5 (S585N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 938100	NM_021831.6(AGBL5):c.1787A>T (p.His596Leu)	AGBL5 (H596L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2617862	NM_021831.6(AGBL5):c.1831G>A (p.Val611Ile)	AGBL5 (V611I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1023427	NM_021831.6(AGBL5):c.1913G>A (p.Arg638Gln)	AGBL5 (R638Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1485659	NM_021831.6(AGBL5):c.1933G>A (p.Gly645Ser)	AGBL5 (G645S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 855798	NM_021831.6(AGBL5):c.1945G>A (p.Gly649Ser)	AGBL5 (G649S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1375795	NM_021831.6(AGBL5):c.1970A>G (p.Asn657Ser)	AGBL5 (N657S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2603373	NM_021831.6(AGBL5):c.1973C>G (p.Ser658Cys)	AGBL5 (S658C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3095223	NM_021831.6(AGBL5):c.2008C>G (p.His670Asp)	AGBL5 (H670D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 857502	NM_021831.6(AGBL5):c.2106C>G (p.Asp702Glu)	AGBL5 (D702E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 855713	NM_021831.6(AGBL5):c.2108G>A (p.Arg703Lys)	AGBL5 (R703K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1924844	NM_021831.6(AGBL5):c.2137C>T (p.Arg713Cys)	AGBL5 (R713C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1024510	NM_021831.6(AGBL5):c.2149A>G (p.Ser717Gly)	AGBL5 (S717G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1924851	NM_021831.6(AGBL5):c.2300G>A (p.Gly767Glu)	AGBL5 (G767E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3028775	NM_021831.6(AGBL5):c.2374C>T (p.Arg792Trp)	AGBL5 (R792W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3275711	NM_021831.6(AGBL5):c.2386C>T (p.Pro796Ser)	AGBL5 (P796S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2372314	NM_021831.6(AGBL5):c.2387C>T (p.Pro796Leu)	AGBL5 (P796L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1054674	NM_021831.6(AGBL5):c.2399G>A (p.Gly800Glu)	AGBL5 (G800E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1464664	NM_021831.6(AGBL5):c.2435C>T (p.Pro812Leu)	AGBL5 (P812L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 963336	NM_021831.6(AGBL5):c.2435C>G (p.Pro812Arg)	AGBL5 (P812R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3095243	NM_021831.6(AGBL5):c.2437C>T (p.Arg813Trp)	AGBL5 (R813W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1054166	NM_021831.6(AGBL5):c.2444G>C (p.Arg815Thr)	AGBL5 (R815T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2291507	NM_021831.6(AGBL5):c.2471C>G (p.Ser824Cys)	AGBL5 (S824C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3275742	NM_021831.6(AGBL5):c.2498A>G (p.Gln833Arg)	AGBL5 (Q833R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 841908	NM_021831.6(AGBL5):c.2513G>A (p.Arg838Gln)	AGBL5 (R838Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1375257	NM_021831.6(AGBL5):c.2553T>G (p.Ser851Arg)	AGBL5 (S851R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2471406	NM_021831.6(AGBL5):c.2554C>A (p.Leu852Ile)	AGBL5 (L852I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2300989	NM_021831.6(AGBL5):c.2589G>C (p.Arg863Ser)	AGBL5 (R863S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2616245	NM_021831.6(AGBL5):c.2632C>T (p.Pro878Ser)	AGBL5 (P878S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3095272	NM_021831.6(AGBL5):c.2656G>T (p.Val886Phe)	AGBL5 (V886F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 59