ADCK2[gene] and "single gene"[properties] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3080900	NM_052853.4(ADCK2):c.17G>T (p.Arg6Leu)	ADCK2 (R6L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658019	NM_052853.4(ADCK2):c.51G>A (p.Arg17=)	ADCK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2487982	NM_052853.4(ADCK2):c.61C>G (p.Leu21Val)	ADCK2 (L21V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658020	NM_052853.4(ADCK2):c.124C>T (p.Leu42Phe)	ADCK2 (L42F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2554967	NM_052853.4(ADCK2):c.149T>C (p.Val50Ala)	ADCK2 (V50A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296752	NM_052853.4(ADCK2):c.256C>G (p.Arg86Gly)	ADCK2 (R86G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466151	NM_052853.4(ADCK2):c.310G>T (p.Gly104Cys)	ADCK2 (G104C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507975	NM_052853.4(ADCK2):c.352C>T (p.Pro118Ser)	ADCK2 (P118S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080917	NM_052853.4(ADCK2):c.370C>T (p.Pro124Ser)	ADCK2 (P124S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053008	NM_052853.4(ADCK2):c.410C>T (p.Ala137Val)	ADCK2 (A137V)	Single nucleotide variant (missense variant)	ADCK2-related disorder	GLikely benign
Select item 3269047	NM_052853.4(ADCK2):c.649G>C (p.Ala217Pro)	ADCK2 (A217P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459985	NM_052853.4(ADCK2):c.675G>T (p.Glu225Asp)	ADCK2 (E225D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300990	NM_052853.4(ADCK2):c.694C>T (p.Leu232Phe)	ADCK2 (L232F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080931	NM_052853.4(ADCK2):c.874C>T (p.Arg292Trp)	ADCK2 (R292W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548231	NM_052853.4(ADCK2):c.878C>G (p.Ala293Gly)	ADCK2 (A293G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293209	NM_052853.4(ADCK2):c.908C>G (p.Thr303Ser)	ADCK2 (T303S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037734	NM_052853.4(ADCK2):c.933+1G>C	ADCK2	Single nucleotide variant (splice donor variant)	ADCK2-related disorder	GLikely benign
Select item 3269058	NM_052853.4(ADCK2):c.1024A>G (p.Lys342Glu)	ADCK2 (K342E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460737	NM_052853.4(ADCK2):c.1082T>C (p.Ile361Thr)	ADCK2 (I361T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524972	NM_052853.4(ADCK2):c.1084G>C (p.Asp362His)	ADCK2 (D362H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080825	NM_052853.4(ADCK2):c.1162C>A (p.Pro388Thr)	ADCK2 (P388T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301754	NM_052853.4(ADCK2):c.1186G>A (p.Glu396Lys)	ADCK2 (E396K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658021	NM_052853.4(ADCK2):c.1203G>A (p.Thr401=)	ADCK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658022	NM_052853.4(ADCK2):c.1251C>T (p.Pro417=)	ADCK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3080831	NM_052853.4(ADCK2):c.1252G>A (p.Val418Met)	ADCK2 (V418M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080834	NM_052853.4(ADCK2):c.1382C>T (p.Ser461Leu)	ADCK2 (S461L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080839	NM_052853.4(ADCK2):c.1389G>C (p.Gln463His)	ADCK2 (Q463H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080843	NM_052853.4(ADCK2):c.1394C>T (p.Ala465Val)	ADCK2 (A465V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332054	NM_052853.4(ADCK2):c.1414A>G (p.Ile472Val)	ADCK2 (I472V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3080846	NM_052853.4(ADCK2):c.1433T>C (p.Val478Ala)	ADCK2 (V478A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080851	NM_052853.4(ADCK2):c.1441C>G (p.Pro481Ala)	ADCK2 (P481A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511608	NM_052853.4(ADCK2):c.1444T>C (p.Ser482Pro)	ADCK2 (S482P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2275515	NM_052853.4(ADCK2):c.1457C>T (p.Pro486Leu)	ADCK2 (P486L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601493	NM_052853.4(ADCK2):c.1463G>A (p.Arg488Gln)	ADCK2 (R488Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396038	NM_052853.4(ADCK2):c.1526G>A (p.Arg509Gln)	ADCK2 (R509Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080873	NM_052853.4(ADCK2):c.1528G>A (p.Ala510Thr)	ADCK2 (A510T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269065	NM_052853.4(ADCK2):c.1559G>A (p.Gly520Asp)	ADCK2 (G520D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490528	NM_052853.4(ADCK2):c.1564A>G (p.Arg522Gly)	ADCK2 (R522G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080878	NM_052853.4(ADCK2):c.1603G>A (p.Glu535Lys)	ADCK2 (E535K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462355	NM_052853.4(ADCK2):c.1615G>A (p.Val539Met)	ADCK2 (V539M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549585	NM_052853.4(ADCK2):c.1620G>C (p.Glu540Asp)	ADCK2 (E540D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269038	NM_052853.4(ADCK2):c.1633G>A (p.Glu545Lys)	ADCK2 (E545K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544184	NM_052853.4(ADCK2):c.1654C>G (p.Gln552Glu)	ADCK2 (Q552E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338184	NM_052853.4(ADCK2):c.1678C>G (p.Leu560Val)	ADCK2 (L560V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080896	NM_052853.4(ADCK2):c.1709C>G (p.Ser570Cys)	ADCK2 (S570C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258535	NM_052853.4(ADCK2):c.1835A>G (p.Glu612Gly)	ADCK2 (E612G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053428	NM_052853.4(ADCK2):c.1866A>T (p.Pro622=)	ADCK2	Single nucleotide variant (synonymous variant)	ADCK2-related disorder	GLikely benign

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Items: 47