ClinVar for Gene (Select 90956) - ClinVar

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Links from Gene

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3269058	NM_052853.4(ADCK2):c.1024A>G (p.Lys342Glu)	ADCK2 (K342E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3269038	NM_052853.4(ADCK2):c.1633G>A (p.Glu545Lys)	ADCK2 (E545K)	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 3080917	NM_052853.4(ADCK2):c.370C>T (p.Pro124Ser)	ADCK2 (P124S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3080896	NM_052853.4(ADCK2):c.1709C>G (p.Ser570Cys)	ADCK2 (S570C)	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 3080873	NM_052853.4(ADCK2):c.1528G>A (p.Ala510Thr)	ADCK2 (A510T)	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 3080846	NM_052853.4(ADCK2):c.1433T>C (p.Val478Ala)	ADCK2 (V478A)	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 3080839	NM_052853.4(ADCK2):c.1389G>C (p.Gln463His)	ADCK2 (Q463H)	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 3080831	NM_052853.4(ADCK2):c.1252G>A (p.Val418Met)	ADCK2 (V418M)	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 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 3053428	NM_052853.4(ADCK2):c.1866A>T (p.Pro622=)	ADCK2	Single nucleotide variant (synonymous variant)	ADCK2-related disorder	GLikely benign
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 3037734	NM_052853.4(ADCK2):c.933+1G>C	ADCK2	Single nucleotide variant (splice donor variant)	ADCK2-related disorder	GLikely benign
Select item 2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	ARHGEF35, KEL +169 more	Copy number loss	not provided	GPathogenic
Select item 2658022	NM_052853.4(ADCK2):c.1251C>T (p.Pro417=)	ADCK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658021	NM_052853.4(ADCK2):c.1203G>A (p.Thr401=)	ADCK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2658019	NM_052853.4(ADCK2):c.51G>A (p.Arg17=)	ADCK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2583057	GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1	NDUFB2, NOBOX +125 more	Copy number loss	not provided	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
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 2549585	NM_052853.4(ADCK2):c.1620G>C (p.Glu540Asp)	ADCK2 (E540D)	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 2544184	NM_052853.4(ADCK2):c.1654C>G (p.Gln552Glu)	ADCK2 (Q552E)	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 2511608	NM_052853.4(ADCK2):c.1444T>C (p.Ser482Pro)	ADCK2 (S482P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2490528	NM_052853.4(ADCK2):c.1564A>G (p.Arg522Gly)	ADCK2 (R522G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2466151	NM_052853.4(ADCK2):c.310G>T (p.Gly104Cys)	ADCK2 (G104C)	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 2460737	NM_052853.4(ADCK2):c.1082T>C (p.Ile361Thr)	ADCK2 (I361T)	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 2425346	NC_000007.13:g.(?_130781014)_(150301047_?)del	CTAGE6, CTAGE8 +141 more	Deletion	not provided	GPathogenic
Select item 2425073	NC_000007.13:g.(?_138391369)_(141759786_?)del	SSBP1, TAS2R3 +34 more	Deletion	not provided	GPathogenic
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 2338184	NM_052853.4(ADCK2):c.1678C>G (p.Leu560Val)	ADCK2 (L560V)	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 2301754	NM_052853.4(ADCK2):c.1186G>A (p.Glu396Lys)	ADCK2 (E396K)	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 2296752	NM_052853.4(ADCK2):c.256C>G (p.Arg86Gly)	ADCK2 (R86G)	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 2275515	NM_052853.4(ADCK2):c.1457C>T (p.Pro486Leu)	ADCK2 (P486L)	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 1807754	GRCh37/hg19 7q32.3-36.1(chr7:131779213-149042734)x1	RAB19, RNY1 +123 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527405	GRCh37/hg19 7q34(chr7:140142390-140443247)	ADCK2, BRAF +3 more	Copy number gain	not specified	GUncertain significance
Select item 1450681	NC_000007.13:g.(?_137761265)_(141759786_?)dup	ADCK2, AGK +37 more	Duplication	not provided	GUncertain significance
Select item 1341257	GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3	ABCB8, ABCF2 +186 more	Copy number gain	not provided	GPathogenic
Select item 1330183	GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1	EPHA1, EPHB6 +105 more	Copy number loss	Hypertelorism +7 more	GPathogenic
Select item 816507	GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1	ABCB8, ABCF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 688878	GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3	OR2A25, OR2A42 +192 more	Copy number gain	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic
Select item 617479	Single allele	DGKI, SVOPL +74 more	Complex	Renal transitional cell carcinoma	GLikely pathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563421	GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1	ABCB8, ABCF2 +143 more	Copy number loss	not provided	GPathogenic
Select item 442966	GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1	ABCB8, ABCF2 +162 more	Copy number loss	See cases	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 441751	GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3	DGKI, DNAJB6 +166 more	Copy number gain	See cases	GPathogenic
Select item 441535	GRCh37/hg19 7q34(chr7:140386035-140543509)x3	ADCK2, BRAF +1 more	Copy number gain	See cases	GLikely benign
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 155657	GRCh38/hg38 7q34-35(chr7:140061285-144622893)x3	TRBC1, TRBC2 +230 more	Copy number gain	See cases	GUncertain significance
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 149975	GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1	TRBC2, TRBD1 +455 more	Copy number loss	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 60297	GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1	ADCK2, AGK +373 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	TRC-GCA9-3, TRC-GCA9-4 +1019 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 91