ClinVar for Gene (Select 126075) - ClinVar

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Links from Gene

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062391	GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1	MIR199A1, ODAD3 +87 more	Copy number loss	not specified	GPathogenic
Select item 2568454	NM_001080503.3(CCDC159):c.458G>A (p.Arg153Gln)	CCDC159 (R153Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538597	NM_001080503.3(CCDC159):c.242C>T (p.Thr81Ile)	CCDC159 (T81I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510829	NM_001080503.3(CCDC159):c.566A>G (p.Lys189Arg)	CCDC159 (K189R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491544	NM_001080503.3(CCDC159):c.823G>A (p.Asp275Asn)	CCDC159 (D275N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481759	NM_001080503.3(CCDC159):c.170T>G (p.Val57Gly)	CCDC159 (V57G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481544	NM_001080503.3(CCDC159):c.715T>G (p.Ser239Ala)	CCDC159 (S239A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468720	NM_001080503.3(CCDC159):c.247C>T (p.Arg83Cys)	CCDC159 (R83C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2423817	NC_000019.9:g.(?_11277234)_(13249220_?)dup	ACP5, ANGPTL8 +68 more	Duplication	not provided	GUncertain significance
Select item 2422498	NC_000019.9:g.(?_10828919)_(13482613_?)dup	HOOK2, TRMT1 +81 more	Duplication	Deficiency of alpha-mannosidase +4 more	GUncertain significance
Select item 2406711	NM_001080503.3(CCDC159):c.748T>C (p.Cys250Arg)	CCDC159 (C250R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2384927	NM_001080503.3(CCDC159):c.829G>A (p.Asp277Asn)	CCDC159 (D277N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361614	NM_001080503.3(CCDC159):c.292C>T (p.Arg98Trp)	CCDC159 (R98W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359073	NM_001080503.3(CCDC159):c.134C>A (p.Ala45Asp)	CCDC159 (A45D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290316	NM_001080503.3(CCDC159):c.175A>T (p.Met59Leu)	CCDC159 (M59L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265116	NM_001080503.3(CCDC159):c.254G>A (p.Gly85Glu)	CCDC159 (G85E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218884	NM_001080503.3(CCDC159):c.376C>G (p.Arg126Gly)	CCDC159 (R126G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217219	NM_001080503.3(CCDC159):c.349C>T (p.Arg117Cys)	CCDC159 (R117C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208018	NM_001080503.3(CCDC159):c.703G>A (p.Val235Met)	CCDC159 (V235M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1340718	GRCh37/hg19 19p13.2(chr19:9941033-11739567)x3	ACP5, ANGPTL6 +59 more	Copy number gain	not provided	GUncertain significance
Select item 983187	GRCh37/hg19 19p13.2(chr19:10957601-11672041)x1	ANGPTL8, C19orf38 +22 more	Copy number loss	See cases	GPathogenic
Select item 972927	GRCh37/hg19 19p13.2(chr19:10642984-12810067)	ZNF653, ZNF69 +63 more	Copy number loss	not provided	Gnot provided
Select item 816066	GRCh37/hg19 19p13.2(chr19:11445773-12160664)x3	ELOF1, EPOR +23 more	Copy number gain	not provided	GUncertain significance
Select item 684477	Single allele	ACP5, ANGPTL8 +63 more	Deletion	not provided	Gnot provided
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	PRKCSH, PTGER1 +153 more	Copy number gain	See cases	GPathogenic
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	LOC130063636, LOC130063637 +434 more	Copy number loss	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +2135 more	Copy number gain	See cases	GPathogenic
Select item 60235	GRCh38/hg38 19p13.2(chr19:11138895-11549951)x3	ANGPTL8, CCDC159 +52 more	Copy number gain	See cases	GUncertain significance
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	ACP5, ANGPTL6 +536 more	Copy number gain	See cases	GLikely pathogenic

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Links from Gene

Items: 34