82[HGNC] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 145586	GRCh38/hg38 3p22.3-22.1(chr3:33728406-40662451)x3	ACAA1, ACVR2B +176 more	Copy number gain	See cases	GPathogenic
Select item 665052	NC_000003.12:g.(?_37452365)_(38950372_?)del	CTDSPL, DLEC1 +51 more	Deletion	Brugada syndrome	GPathogenic
Select item 2511518	NM_001607.4(ACAA1):c.1246G>A (p.Ala416Thr)	ACAA1, DLEC1 (A323T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2341655	NM_001607.4(ACAA1):c.1228G>A (p.Gly410Arg)	ACAA1, DLEC1 (G317R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2361331	NM_001607.4(ACAA1):c.1154G>A (p.Arg385Gln)	ACAA1 (R292Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3033932	NM_001607.4(ACAA1):c.1104C>T (p.Pro368=)	ACAA1	Single nucleotide variant (synonymous variant +1 more)	ACAA1-related disorder	GLikely benign
Select item 2262662	NM_001607.4(ACAA1):c.1087C>G (p.Pro363Ala)	ACAA1 (P270A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614044	NM_001607.4(ACAA1):c.1085C>T (p.Pro362Leu)	ACAA1 (P362L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350670	NM_001607.4(ACAA1):c.866G>A (p.Arg289Gln)	ACAA1 (R289Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2216920	NM_001607.4(ACAA1):c.808A>G (p.Thr270Ala)	ACAA1 (T270A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3038639	NM_001607.4(ACAA1):c.627-9T>C	ACAA1	Single nucleotide variant (intron variant)	ACAA1-related disorder	GLikely benign
Select item 3133380	NM_001607.4(ACAA1):c.596A>G (p.Gln199Arg)	ACAA1 (Q166R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3352674	NM_001607.4(ACAA1):c.546-4C>A	ACAA1	Single nucleotide variant (intron variant)	ACAA1-related disorder	GLikely benign
Select item 1277354	NM_001607.4(ACAA1):c.516G>C (p.Glu172Asp)	ACAA1 (E172D)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2266735	NM_001607.4(ACAA1):c.504G>C (p.Leu168Phe)	ACAA1 (L168F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3260260	NM_001607.4(ACAA1):c.500G>A (p.Arg167His)	ACAA1 (R167H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3133374	NM_001607.4(ACAA1):c.499C>T (p.Arg167Cys)	ACAA1 (R167C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2351849	NM_001607.4(ACAA1):c.497C>T (p.Ser166Leu)	ACAA1 (S166L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2342055	NM_001607.4(ACAA1):c.488A>G (p.Asn163Ser)	ACAA1 (N163S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3052426	NM_001607.4(ACAA1):c.462C>T (p.Ser154=)	ACAA1	Single nucleotide variant (synonymous variant +2 more)	ACAA1-related disorder	GBenign
Select item 2384607	NM_001607.4(ACAA1):c.457A>T (p.Met153Leu)	ACAA1 (M153L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3133368	NM_001607.4(ACAA1):c.391G>T (p.Ala131Ser)	ACAA1 (A131S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133367	NM_001607.4(ACAA1):c.364C>G (p.Gln122Glu)	ACAA1 (Q122E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460389	NM_001607.4(ACAA1):c.350C>T (p.Ser117Phe)	ACAA1 (S117F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384154	NM_001607.4(ACAA1):c.289G>A (p.Gly97Arg)	ACAA1 (G97R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3057974	NM_001607.4(ACAA1):c.255C>T (p.Asp85=)	ACAA1	Single nucleotide variant (synonymous variant +1 more)	ACAA1-related disorder	GLikely benign
Select item 3133357	NM_001607.4(ACAA1):c.226G>A (p.Val76Met)	ACAA1 (V76M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3043793	NM_001607.4(ACAA1):c.225C>G (p.Asp75Glu)	ACAA1 (D75E)	Single nucleotide variant (missense variant +1 more)	ACAA1-related disorder	GLikely benign
Select item 3133354	NM_001607.4(ACAA1):c.214G>C (p.Val72Leu)	ACAA1 (V72L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258264	NM_001607.4(ACAA1):c.166T>G (p.Phe56Val)	ACAA1 (F56V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133348	NM_001607.4(ACAA1):c.136A>G (p.Thr46Ala)	ACAA1 (T46A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494832	NM_001607.4(ACAA1):c.134G>T (p.Arg45Leu)	ACAA1 (R45L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521622	NM_001607.4(ACAA1):c.95A>G (p.Gln32Arg)	ACAA1 (Q32R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2463256	NM_001607.4(ACAA1):c.28C>T (p.His10Tyr)	ACAA1 (H10Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538794	NM_001607.4(ACAA1):c.26G>A (p.Gly9Asp)	ACAA1 (G9D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3042154	NM_001607.4(ACAA1):c.6G>A (p.Gln2=)	ACAA1	Single nucleotide variant (synonymous variant +1 more)	ACAA1-related disorder	GLikely benign
Select item 1527010	GRCh37/hg19 3p22.2(chr3:38109534-38669316)	ACAA1, ACVR2B +8 more	Copy number gain	not specified	GUncertain significance
Select item 1455527	NC_000003.11:g.(?_16710965)_(41275270_?)del	ACAA1, ACVR2B +93 more	Deletion	not provided	GPathogenic
Select item 1373543	NC_000003.11:g.(?_37034542)_(38835501_?)dup	ACAA1, ACVR2B +19 more	Duplication	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 830760	NC_000003.12:g.(?_37452365)_(38950372_?)dup	ACVR2B, CTDSPL +15 more	Duplication	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 814435	GRCh37/hg19 3p22.2(chr3:37987092-38194369)x3	MIR26A1, DLEC1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 562765	GRCh37/hg19 3p22.2(chr3:38021661-38510752)x3	CTDSPL, PLCD1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 562760	GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3	ABHD5, ACAA1 +135 more	Copy number gain	not provided	GPathogenic
Select item 503576	GRCh37/hg19 3p22.2(chr3:37891706-38877793)x3	VILL, XYLB +13 more	Copy number gain	See cases	GUncertain significance
Select item 463218	NC_000003.11:g.(?_37493846)_(38991873_?)del	ACAA1, ACVR2B +15 more	Deletion	Brugada syndrome	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic

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Items: 50