2627[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 155008	GRCh38/hg38 18p11.22-q11.2(chr18:8779843-24685379)x3	LOC130062208, LOC130062209 +322 more	Copy number gain	See cases	GPathogenic
Select item 155388	GRCh38/hg38 18p11.21-q11.2(chr18:13340112-23409879)	LOC130062243, LOC130062244 +111 more	Copy number gain	See cases	GPathogenic
Select item 154073	GRCh38/hg38 18q11.1-12.3(chr18:20941324-40360620)x3	ABHD3, ANKRD29 +378 more	Copy number gain	See cases	GPathogenic
Select item 153150	GRCh38/hg38 18q11.1-12.1(chr18:20949378-34363455)x3	ABHD3, ANKRD29 +282 more	Copy number gain	See cases	GPathogenic
Select item 58758	GRCh38/hg38 18q11.1-12.1(chr18:20960320-28601877)x3	ABHD3, ANKRD29 +204 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC126862717, LOC126862718 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC132090510, LOC132090511 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC132211113, LOC132211114 +1266 more	Copy number gain	See cases	GPathogenic
Select item 1044423	NC_000018.10:g.22169190A>T	GATA6	Single nucleotide variant	Atrioventricular septal defect 5	GUncertain significance
Select item 1186949	NM_005257.6(GATA6):c.-37-259C>T	GATA6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181955	NM_005257.6(GATA6):c.-37-38G>C	GATA6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3369125	NM_005257.6(GATA6):c.-1G>A	GATA6	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2735793	NM_005257.6(GATA6):c.2T>A (p.Met1Lys)	GATA6 (M1K)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 5	GUncertain significance
Select item 3041124	NM_005257.6(GATA6):c.15C>G (p.Asp5Glu)	GATA6 (D5E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1352543	NM_005257.6(GATA6):c.16G>C (p.Gly6Arg)	GATA6 (G6R)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 962284	NM_005257.6(GATA6):c.16G>A (p.Gly6Ser)	GATA6 (G6S)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5 +1 more	GUncertain significance
Select item 1587871	NM_005257.6(GATA6):c.18C>A (p.Gly6=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5	GLikely benign
Select item 2911583	NM_005257.6(GATA6):c.19G>A (p.Gly7Ser)	GATA6 (G7S)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 977802	NM_005257.6(GATA6):c.23G>A (p.Trp8Ter)	GATA6 (W8*)	Single nucleotide variant (nonsense)	Tetralogy of Fallot	GPathogenic
Select item 1338123	NM_005257.6(GATA6):c.25T>A (p.Cys9Ser)	GATA6 (C9S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1463569	NM_005257.6(GATA6):c.32C>T (p.Pro11Leu)	GATA6 (P11L)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 1553113	NM_005257.6(GATA6):c.33G>A (p.Pro11=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5	GLikely benign
Select item 698609	NM_005257.6(GATA6):c.43G>A (p.Gly15Arg)	GATA6 (G15R)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GLikely benign
Select item 129134	NM_005257.6(GATA6):c.43G>C (p.Gly15Arg)	GATA6 (G15R)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 1606254	NM_005257.6(GATA6):c.48C>A (p.Ala16=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5	GLikely benign
Select item 1556189	NM_005257.6(GATA6):c.48C>G (p.Ala16=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5	GLikely benign
Select item 1360922	NM_005257.6(GATA6):c.50C>G (p.Ala17Gly)	GATA6 (A17G)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 857437	NM_005257.6(GATA6):c.52G>C (p.Gly18Arg)	GATA6 (G18R)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2060220	NM_005257.6(GATA6):c.56C>A (p.Ala19Glu)	GATA6 (A19E)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5 +1 more	GUncertain significance
Select item 835417	NM_005257.6(GATA6):c.57G>A (p.Ala19=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5	GLikely benign
Select item 1503989	NM_005257.6(GATA6):c.61G>T (p.Ala21Ser)	GATA6 (A21S)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 696465	NM_005257.6(GATA6):c.62C>G (p.Ala21Gly)	GATA6 (A21G)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2662506	NM_005257.6(GATA6):c.66C>A (p.Ser22Arg)	GATA6 (S22R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2152861	NM_005257.6(GATA6):c.67_68delinsTT (p.Asp23Phe)	GATA6 (D23F)	Indel (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2633208	NM_005257.6(GATA6):c.83C>T (p.Pro28Leu)	GATA6 (P28L)	Single nucleotide variant (missense variant)	GATA6-related disorder	GUncertain significance
Select item 1429267	NM_005257.6(GATA6):c.86C>A (p.Ala29Glu)	GATA6 (A29E)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 1113102	NM_005257.6(GATA6):c.87G>A (p.Ala29=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5	GLikely benign
Select item 939134	NM_005257.6(GATA6):c.89G>A (p.Arg30Gln)	GATA6 (R30Q)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5 +1 more	GUncertain significance
Select item 1499963	NM_005257.6(GATA6):c.91G>C (p.Glu31Gln)	GATA6 (E31Q)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 1366251	NM_005257.6(GATA6):c.91G>A (p.Glu31Lys)	GATA6 (E31K)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 1017315	NM_005257.6(GATA6):c.94C>A (p.Pro32Thr)	GATA6 (P32T)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2084960	NM_005257.6(GATA6):c.95C>T (p.Pro32Leu)	GATA6 (P32L)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 1977718	NM_005257.6(GATA6):c.98C>A (p.Ser33Tyr)	GATA6 (S33Y)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 1363841	NM_005257.6(GATA6):c.110C>T (p.Ser37Phe)	GATA6 (S37F)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 854806	NM_005257.6(GATA6):c.112C>A (p.Pro38Thr)	GATA6 (P38T)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5 +1 more	GUncertain significance
Select item 2785800	NM_005257.6(GATA6):c.116T>C (p.Ile39Thr)	GATA6 (I39T)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 3345168	NM_005257.6(GATA6):c.118T>C (p.Ser40Pro)	GATA6 (S40P)	Single nucleotide variant (missense variant)	GATA6-related disorder	GUncertain significance
Select item 971068	NM_005257.6(GATA6):c.119C>T (p.Ser40Phe)	GATA6 (S40F)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 1579032	NM_005257.6(GATA6):c.123C>T (p.Ser41=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5	GLikely benign
Select item 2672719	NM_005257.6(GATA6):c.124T>C (p.Ser42Pro)	GATA6 (S42P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591214	NM_005257.6(GATA6):c.128CCT[2] (p.Ser45del)	GATA6 (S45del)	Microsatellite (inframe_deletion)	Atrioventricular septal defect 5	GUncertain significance
Select item 2829763	NM_005257.6(GATA6):c.128C>G (p.Ser43Cys)	GATA6 (S43C)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2733101	NM_005257.6(GATA6):c.128C>A (p.Ser43Tyr)	GATA6 (S43Y)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 1388882	NM_005257.6(GATA6):c.130T>G (p.Ser44Ala)	GATA6 (S44A)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2805597	NM_005257.6(GATA6):c.134C>T (p.Ser45Phe)	GATA6 (S45F)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2854611	NM_005257.6(GATA6):c.140C>G (p.Ser47Cys)	GATA6 (S47C)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2148831	NM_005257.6(GATA6):c.148_159dup (p.Gly53_Pro54insGlyGluArgGly)	GATA6	Duplication (inframe_insertion)	Atrioventricular septal defect 5	GUncertain significance
Select item 1657992	NM_005257.6(GATA6):c.141C>T (p.Ser47=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5	GLikely benign
Select item 3367079	NM_005257.6(GATA6):c.148G>T (p.Gly50Ter)	GATA6 (G50*)	Single nucleotide variant (nonsense)	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	GLikely pathogenic
Select item 2195608	NM_005257.6(GATA6):c.151G>T (p.Glu51Ter)	GATA6 (E51*)	Single nucleotide variant (nonsense)	GATA6-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1114408	NM_005257.6(GATA6):c.151G>A (p.Glu51Lys)	GATA6 (E51K)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5 +1 more	GConflicting classifications of pathogenicity
Select item 1311071	NM_005257.6(GATA6):c.155G>A (p.Arg52Gln)	GATA6 (R52Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1017801	NM_005257.6(GATA6):c.155G>T (p.Arg52Leu)	GATA6 (R52L)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 646819	NM_005257.6(GATA6):c.155G>C (p.Arg52Pro)	GATA6 (R52P)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 700864	NM_005257.6(GATA6):c.156G>A (p.Arg52=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5	GLikely benign
Select item 1394828	NM_005257.6(GATA6):c.157G>A (p.Gly53Ser)	GATA6 (G53S)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 1343195	NM_005257.6(GATA6):c.158_159delinsT (p.Gly53fs)	GATA6 (G53fs)	Indel (frameshift variant)	Developmental disorder	GUncertain significance
Select item 2761025	NM_005257.6(GATA6):c.160C>G (p.Pro54Ala)	GATA6 (P54A)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2142836	NM_005257.6(GATA6):c.160C>T (p.Pro54Ser)	GATA6 (P54S)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 549549	NM_005257.6(GATA6):c.172A>G (p.Ser58Gly)	GATA6 (S58G)	Single nucleotide variant (missense variant)	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome +2 more	GUncertain significance
Select item 3098762	NM_005257.6(GATA6):c.178T>C (p.Cys60Arg)	GATA6 (C60R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2081847	NM_005257.6(GATA6):c.180C>T (p.Cys60=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5	GLikely benign
Select item 1051348	NM_005257.6(GATA6):c.180C>G (p.Cys60Trp)	GATA6 (C60W)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 412727	NM_005257.6(GATA6):c.183G>A (p.Gly61=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5	GLikely benign
Select item 2776255	NM_005257.6(GATA6):c.186G>A (p.Thr62=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5	GLikely benign
Select item 1061620	NM_005257.6(GATA6):c.187C>T (p.Pro63Ser)	GATA6 (P63S)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 1414184	NM_005257.6(GATA6):c.193C>A (p.Leu65Ile)	GATA6 (L65I)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2014386	NM_005257.6(GATA6):c.196G>A (p.Asp66Asn)	GATA6 (D66N)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 1354849	NM_005257.6(GATA6):c.196G>C (p.Asp66His)	GATA6 (D66H)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2150948	NM_005257.6(GATA6):c.199A>G (p.Thr67Ala)	GATA6 (T67A)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 961737	NM_005257.6(GATA6):c.199A>T (p.Thr67Ser)	GATA6 (T67S)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 540138	NM_005257.6(GATA6):c.200C>G (p.Thr67Arg)	GATA6 (T67R)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2500038	NM_005257.6(GATA6):c.202G>C (p.Glu68Gln)	GATA6 (E68Q)	Single nucleotide variant (missense variant)	Conotruncal heart malformations +4 more	GUncertain significance
Select item 698610	NM_005257.6(GATA6):c.203A>T (p.Glu68Val)	GATA6 (E68V)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GLikely benign
Select item 940915	NM_005257.6(GATA6):c.208G>A (p.Ala70Thr)	GATA6 (A70T)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 2115675	NM_005257.6(GATA6):c.217C>A (p.Pro73Thr)	GATA6 (P73T)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5	GUncertain significance
Select item 240130	NM_005257.6(GATA6):c.222G>A (p.Pro74=)	GATA6	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 540134	NM_005257.6(GATA6):c.233T>C (p.Leu78Pro)	GATA6 (L78P)	Single nucleotide variant (missense variant)	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome +4 more	GUncertain significance
Select item 2899298	NM_005257.6(GATA6):c.234G>A (p.Leu78=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5	GLikely benign
Select item 2230915	NM_005257.6(GATA6):c.236T>C (p.Leu79Pro)	GATA6 (L79P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 412721	NM_005257.6(GATA6):c.237G>C (p.Leu79=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5 +1 more	GLikely benign

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