22845[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 59125	GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1	AK1, ANGPTL2 +309 more	Copy number loss	See cases	GPathogenic
Select item 59134	GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1	AK1, ASB6 +264 more	Copy number loss	See cases	GPathogenic
Select item 59906	GRCh38/hg38 9q34.11(chr9:127919476-130079974)x3	ASB6, BBLN +239 more	Copy number gain	See cases	GPathogenic
Select item 149067	GRCh38/hg38 9q34.11(chr9:128610170-129368351)x1	CRAT, DOLK +72 more	Copy number loss	See cases	GUncertain significance
Select item 58499	GRCh38/hg38 9q34.11(chr9:128808545-129002107)x3	DOLK, ENDOG +16 more	Copy number gain	See cases	GUncertain significance
Select item 148707	GRCh38/hg38 9q34.11-34.12(chr9:128839676-130912873)x3	ABL1, ASB6 +179 more	Copy number gain	See cases	GUncertain significance
Select item 1193200	NC_000009.12:g.128945392G>C	DOLK	Single nucleotide variant	not provided	GLikely benign
Select item 1189617	NC_000009.12:g.128945509dup	DOLK	Duplication	not provided	GLikely benign
Select item 1192843	NC_000009.12:g.128945509del	DOLK	Deletion	not provided	GLikely benign
Select item 1178876	NC_000009.12:g.128945506_128945509del	DOLK	Deletion	not provided	GLikely benign
Select item 365191	NM_014908.4(DOLK):c.*124A>G	DOLK	Single nucleotide variant (3 prime UTR variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 913691	NM_014908.4(DOLK):c.*20G>A	DOLK	Single nucleotide variant (3 prime UTR variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 584358	NC_000009.11:g.(?_131707946)_(131709602_?)dup	DOLK	Duplication	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 2193502	NM_014908.4(DOLK):c.1616A>G (p.Ter539Trp)	DOLK	Single nucleotide variant (stop lost)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 2009788	NM_014908.4(DOLK):c.1606C>G (p.Leu536Val)	DOLK (L536V)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 2041743	NM_014908.4(DOLK):c.1603T>C (p.Leu535=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation	GLikely benign
Select item 1970613	NM_014908.4(DOLK):c.1600A>G (p.Ile534Val)	DOLK (I534V)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 3226327	NM_014908.4(DOLK):c.1598T>G (p.Leu533Arg)	DOLK (L533R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3273480	NM_014908.4(DOLK):c.1597C>A (p.Leu533Met)	DOLK (L533M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1160009	NM_014908.4(DOLK):c.1597C>T (p.Leu533=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2116976	NM_014908.4(DOLK):c.1596C>G (p.Leu532=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation	GLikely benign
Select item 1440881	NM_014908.4(DOLK):c.1594C>T (p.Leu532Phe)	DOLK (L532F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1775801	NM_014908.4(DOLK):c.1586C>T (p.Pro529Leu)	DOLK (P529L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1384441	NM_014908.4(DOLK):c.1578_1580del (p.Leu528del)	DOLK (L528del)	Deletion (inframe_deletion)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 1364205	NM_014908.4(DOLK):c.1579C>T (p.Leu527Phe)	DOLK (L527F)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 1967230	NM_014908.4(DOLK):c.1576C>T (p.Leu526Phe)	DOLK (L526F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2145876	NM_014908.4(DOLK):c.1574A>G (p.Asn525Ser)	DOLK (N525S)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 2191937	NM_014908.4(DOLK):c.1571A>T (p.Asp524Val)	DOLK (D524V)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 1421244	NM_014908.4(DOLK):c.1569_1570insAATCT (p.Asp524fs)	DOLK (D524fs)	Insertion (frameshift variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 1775429	NM_014908.4(DOLK):c.1569A>G (p.Ile523Met)	DOLK (I523M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 836909	NM_014908.4(DOLK):c.1568T>C (p.Ile523Thr)	DOLK (I523T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3226326	NM_014908.4(DOLK):c.1567A>T (p.Ile523Leu)	DOLK (I523L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2105457	NM_014908.4(DOLK):c.1563A>G (p.Thr521=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation	GLikely benign
Select item 653127	NM_014908.4(DOLK):c.1558A>G (p.Thr520Ala)	DOLK (T520A)	Single nucleotide variant (missense variant)	DOLK-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 757278	NM_014908.4(DOLK):c.1557C>T (p.Tyr519=)	DOLK	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1357701	NM_014908.4(DOLK):c.1541C>G (p.Ser514Cys)	DOLK (S514C)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 1952699	NM_014908.4(DOLK):c.1536T>G (p.Thr512=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation	GLikely benign
Select item 1375121	NM_014908.4(DOLK):c.1535C>T (p.Thr512Ile)	DOLK (T512I)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 569534	NM_014908.4(DOLK):c.1532G>A (p.Ser511Asn)	DOLK (S511N)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 1039145	NM_014908.4(DOLK):c.1528A>G (p.Ile510Val)	DOLK (I510V)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 799984	NM_014908.4(DOLK):c.1527C>T (p.Ser509=)	DOLK	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2421956	NM_014908.4(DOLK):c.1525T>G (p.Ser509Ala)	DOLK (S509A)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 1348702	NM_014908.4(DOLK):c.1522G>T (p.Gly508Trp)	DOLK (G508W)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 705536	NM_014908.4(DOLK):c.1512T>C (p.Ala504=)	DOLK	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1774202	NM_014908.4(DOLK):c.1510G>A (p.Ala504Thr)	DOLK (A504T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1459196	NM_014908.4(DOLK):c.1509T>C (p.Tyr503=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation	GLikely benign
Select item 1774116	NM_014908.4(DOLK):c.1508A>G (p.Tyr503Cys)	DOLK (Y503C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2441018	NM_014908.4(DOLK):c.1505G>C (p.Ser502Thr)	DOLK (S502T)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 1774044	NM_014908.4(DOLK):c.1503_1504insTTGGTCCATCC (p.Ser502fs)	DOLK (S502fs)	Insertion (frameshift variant)	Cardiovascular phenotype	GUncertain significance
Select item 1592085	NM_014908.4(DOLK):c.1491G>A (p.Val497=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation	GLikely benign
Select item 1023349	NM_014908.4(DOLK):c.1490T>C (p.Val497Ala)	DOLK (V497A)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 3019260	NM_014908.4(DOLK):c.1482C>T (p.Asp494=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 449845	NM_014908.4(DOLK):c.1481A>G (p.Asp494Gly)	DOLK (D494G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 3273486	NM_014908.4(DOLK):c.1470C>G (p.Ile490Met)	DOLK (I490M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 390557	NM_014908.4(DOLK):c.1467G>T (p.Leu489=)	DOLK	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 655571	NM_014908.4(DOLK):c.1462G>T (p.Ala488Ser)	DOLK (A488S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1507608	NM_014908.4(DOLK):c.1457C>T (p.Ser486Phe)	DOLK (S486F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2155082	NM_014908.4(DOLK):c.1456T>A (p.Ser486Thr)	DOLK (S486T)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 226616	NM_014908.4(DOLK):c.1450A>G (p.Ile484Val)	DOLK (I484V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 167005	NM_014908.3(DOLK):c.1447C>A (p.Gln483Lys)	DOLK	Single nucleotide variant	not provided	GPathogenic
Select item 365192	NM_014908.4(DOLK):c.1446G>A (p.Ala482=)	DOLK	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1352727	NM_014908.4(DOLK):c.1445C>T (p.Ala482Val)	DOLK (A482V)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 377266	NM_014908.4(DOLK):c.1438A>G (p.Ile480Val)	DOLK (I480V)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation +2 more	GUncertain significance
Select item 226615	NM_014908.4(DOLK):c.1437T>C (p.Ser479=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation +3 more	GConflicting classifications of pathogenicity
Select item 1118784	NM_014908.4(DOLK):c.1434A>G (p.Thr478=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1026749	NM_014908.4(DOLK):c.1431G>A (p.Met477Ile)	DOLK (M477I)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1378013	NM_014908.4(DOLK):c.1429A>G (p.Met477Val)	DOLK (M477V)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 1992450	NM_014908.4(DOLK):c.1427_1428delinsTT (p.Thr476Ile)	DOLK (T476I)	Indel (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 1050954	NM_014908.4(DOLK):c.1424G>T (p.Gly475Val)	DOLK (G475V)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 681044	NM_014908.4(DOLK):c.1422G>A (p.Glu474=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation +2 more	GLikely benign
Select item 1010141	NM_014908.4(DOLK):c.1419T>G (p.Phe473Leu)	DOLK (F473L)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1386634	NM_014908.4(DOLK):c.1413G>C (p.Lys471Asn)	DOLK (K471N)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 2090707	NM_014908.4(DOLK):c.1407C>T (p.Thr469=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation	GLikely benign
Select item 1023995	NM_014908.4(DOLK):c.1402G>A (p.Gly468Arg)	DOLK (G468R)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 2160011	NM_014908.4(DOLK):c.1395C>G (p.Arg465=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation	GLikely benign
Select item 1115772	NM_014908.4(DOLK):c.1395C>T (p.Arg465=)	DOLK	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 227334	NM_014908.4(DOLK):c.1394G>A (p.Arg465His)	DOLK (R465H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2073843	NM_014908.4(DOLK):c.1393C>T (p.Arg465Cys)	DOLK (R465C)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 1771565	NM_014908.4(DOLK):c.1391T>G (p.Ile464Ser)	DOLK (I464S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1518557	NM_014908.4(DOLK):c.1383G>C (p.Met461Ile)	DOLK (M461I)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 1003678	NM_014908.4(DOLK):c.1381A>G (p.Met461Val)	DOLK (M461V)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1122556	NM_014908.4(DOLK):c.1380C>T (p.Thr460=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation	GLikely benign
Select item 569018	NM_014908.4(DOLK):c.1373G>T (p.Gly458Val)	DOLK (G458V)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 1376617	NM_014908.4(DOLK):c.1372G>A (p.Gly458Ser)	DOLK (G458S)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 708075	NM_014908.4(DOLK):c.1371C>T (p.Phe457=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation	GLikely benign
Select item 2126265	NM_014908.4(DOLK):c.1363T>A (p.Ser455Thr)	DOLK (S455T)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 1110082	NM_014908.4(DOLK):c.1362C>T (p.Ala454=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation	GLikely benign
Select item 3273488	NM_014908.4(DOLK):c.1360G>T (p.Ala454Ser)	DOLK (A454S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance

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