CTDSPL[gene] - ClinVar

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Items: 29

	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 3078604	NM_001008392.2(CTDSPL):c.7G>T (p.Gly3Cys)	CTDSPL (G3C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207726	NM_001008392.2(CTDSPL):c.16A>G (p.Ile6Val)	CTDSPL (I6V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 156846	NM_001008392.2(CTDSPL):c.80-8666_80-2299del	CTDSPL	Deletion (intron variant)	Gestational diabetes mellitus uncontrolled +2 more	Gnot provided
Select item 2275158	NM_001008392.2(CTDSPL):c.137T>C (p.Phe46Ser)	CTDSPL (F46S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558772	NM_001008392.2(CTDSPL):c.250G>A (p.Val84Ile)	CTDSPL (V84I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594252	NM_001008392.2(CTDSPL):c.266G>A (p.Ser89Asn)	CTDSPL (S89N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354691	NM_001008392.2(CTDSPL):c.274G>A (p.Ala92Thr)	CTDSPL (A81T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339543	NM_001008392.2(CTDSPL):c.362C>T (p.Ser121Leu)	CTDSPL (S110L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078603	NM_001008392.2(CTDSPL):c.583G>C (p.Glu195Gln)	CTDSPL (E195Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515566	NM_001008392.2(CTDSPL):c.785G>A (p.Arg262Gln)	CTDSPL (R251Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364528	NM_001008392.2(CTDSPL):c.793G>A (p.Asp265Asn)	CTDSPL (D254N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685914	GRCh37/hg19 3p22.2(chr3:37338764-38109534)x3	APRG1, CTDSPL +6 more	Copy number gain	not provided	GUncertain significance
Select item 1527008	GRCh37/hg19 3p22.2(chr3:37347773-38109534)	APRG1, CTDSPL +6 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 688578	GRCh37/hg19 3p22.2(chr3:37347149-38120470)x3	APRG1, CTDSPL +6 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: 29