ClinVar for Gene (Select 390892) - ClinVar

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Links from Gene

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 2684887	GRCh37/hg19 19p13.12-13.11(chr19:14888106-17360864)x3	ADGRE2, AKAP8 +55 more	Copy number gain	not provided	GUncertain significance
Select item 2622157	NM_001005190.2(OR7A10):c.82T>A (p.Phe28Ile)	OR7A10 (F28I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617185	NM_001005190.2(OR7A10):c.236C>G (p.Pro79Arg)	OR7A10 (P79R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605731	NM_001005190.2(OR7A10):c.322G>A (p.Val108Ile)	OR7A10 (V108I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542624	NM_001005190.2(OR7A10):c.146C>T (p.Thr49Ile)	OR7A10 (T49I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519385	NM_001005190.2(OR7A10):c.136A>G (p.Ile46Val)	OR7A10 (I46V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490801	NM_001005190.2(OR7A10):c.620G>A (p.Gly207Asp)	OR7A10 (G207D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480163	NM_001005190.2(OR7A10):c.638G>A (p.Gly213Glu)	OR7A10 (G213E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470700	NM_001005190.2(OR7A10):c.757G>C (p.Gly253Arg)	OR7A10 (G253R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470473	NM_001005190.2(OR7A10):c.764G>C (p.Cys255Ser)	OR7A10 (C255S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455523	NM_001005190.2(OR7A10):c.175A>G (p.Met59Val)	OR7A10 (M59V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2425869	NC_000019.9:g.(?_14847048)_(17394124_?)del	ADGRE2, AKAP8 +57 more	Deletion	not provided	GUncertain significance
Select item 2411704	NM_001005190.2(OR7A10):c.553G>C (p.Val185Leu)	OR7A10 (V185L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378452	NM_001005190.2(OR7A10):c.549G>T (p.Gln183His)	OR7A10 (Q183H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338548	NM_001005190.2(OR7A10):c.311T>C (p.Phe104Ser)	OR7A10 (F104S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278391	NM_001005190.2(OR7A10):c.167A>C (p.His56Pro)	OR7A10 (H56P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273156	NM_001005190.2(OR7A10):c.170C>A (p.Thr57Asn)	OR7A10 (T57N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272682	NM_001005190.2(OR7A10):c.77T>C (p.Phe26Ser)	OR7A10 (F26S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244542	NM_001005190.2(OR7A10):c.739G>A (p.Val247Ile)	OR7A10 (V247I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2240833	NM_001005190.2(OR7A10):c.16A>C (p.Asn6His)	OR7A10 (N6H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228188	NM_001005190.2(OR7A10):c.17A>G (p.Asn6Ser)	OR7A10 (N6S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1526656	GRCh37/hg19 19p13.12-13.11(chr19:14124666-16431349)	ADGRE2, ADGRE3 +55 more	Copy number loss	not specified	GPathogenic
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 816068	GRCh37/hg19 19p13.12(chr19:14368330-15712368)x1	ADGRE2, ADGRE3 +30 more	Copy number loss	not provided	GPathogenic
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 442476	GRCh37/hg19 19p13.12-13.11(chr19:14883158-16788770)x1	ADGRE2, AKAP8 +45 more	Copy number loss	See cases	GPathogenic
Select item 147745	GRCh38/hg38 19p13.12(chr19:14406909-15410770)x1	ADGRE2, ADGRE3 +77 more	Copy number loss	See cases	GUncertain significance
Select item 147284	GRCh38/hg38 19p13.13-13.12(chr19:13533925-15371089)x1	ADGRE2, ADGRE3 +180 more	Copy number loss	See cases	GPathogenic
Select item 144765	GRCh38/hg38 19p13.12-13.11(chr19:14154962-16914313)x1	ADGRL1, ADGRL1-AS1 +237 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 144311	GRCh38/hg38 19p13.12(chr19:14477761-15133653)x3	LOC126862869, LOC126862870 +41 more	Copy number gain	See cases	GUncertain significance
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	LOC130063908, LOC130063909 +695 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 34