5320[geneid] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 57443	GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1	ACTL8, AGMAT +303 more	Copy number loss	See cases	GPathogenic
Select item 59918	GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1	EMC1-AS1, FAM43B +221 more	Copy number loss	See cases	GPathogenic
Select item 59922	GRCh38/hg38 1p36.13(chr1:19093306-20063342)x1	AKR7A2, AKR7A3 +57 more	Copy number loss	See cases	GPathogenic
Select item 149019	GRCh38/hg38 1p36.13-36.12(chr1:19548795-20935131)x1	CAMK2N1, CDA +81 more	Copy number loss	See cases	GUncertain significance
Select item 3038442	NM_001395463.1(PLA2G2A):c.428G>A (p.Arg143His)	PLA2G2A (R143H)	Single nucleotide variant (missense variant)	PLA2G2A-related disorder	GBenign
Select item 2558318	NM_001395463.1(PLA2G2A):c.403A>G (p.Lys135Glu)	PLA2G2A (K135E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214068	NM_001395463.1(PLA2G2A):c.389A>T (p.Gln130Leu)	PLA2G2A (Q130L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224948	NM_001395463.1(PLA2G2A):c.313A>G (p.Ser105Gly)	PLA2G2A (S105G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621609	NM_001395463.1(PLA2G2A):c.239G>T (p.Gly80Val)	PLA2G2A (G80V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214067	NM_001395463.1(PLA2G2A):c.186C>T (p.Arg62=)	PLA2G2A	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2612907	NM_001395463.1(PLA2G2A):c.184C>T (p.Arg62Cys)	PLA2G2A (R62C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214066	NM_001395463.1(PLA2G2A):c.158G>A (p.Arg53Lys)	PLA2G2A (R53K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 13635	NM_001395463.1(PLA2G2A):c.144_145del (p.Cys48fs)	PLA2G2A (C48fs)	Microsatellite (frameshift variant)	Familial colorectal cancer	GPathogenic
Select item 3056896	NM_001395463.1(PLA2G2A):c.132C>T (p.Tyr44=)	PLA2G2A	Single nucleotide variant (synonymous variant)	PLA2G2A-related disorder	GBenign
Select item 3214065	NM_001395463.1(PLA2G2A):c.110C>T (p.Ala37Val)	PLA2G2A (A37V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059119	NM_001395463.1(PLA2G2A):c.96G>C (p.Thr32=)	PLA2G2A	Single nucleotide variant (synonymous variant)	PLA2G2A-related disorder	GBenign
Select item 712953	NM_001395463.1(PLA2G2A):c.55C>T (p.His19Tyr)	PLA2G2A (H19Y)	Single nucleotide variant (missense variant)	PLA2G2A-related disorder +1 more	GBenign
Select item 3055524	NM_001395463.1(PLA2G2A):c.52G>A (p.Ala18Thr)	PLA2G2A (A18T)	Single nucleotide variant (missense variant)	PLA2G2A-related disorder	GLikely benign
Select item 788502	NM_001395463.1(PLA2G2A):c.18G>A (p.Leu6=)	PLA2G2A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3062822	GRCh37/hg19 1p36.21-36.12(chr1:16194137-20561434)x1	ACTL8, AKR7A2 +58 more	Copy number loss	not specified	GPathogenic
Select item 2685797	GRCh37/hg19 1p36.13(chr1:18127009-20315260)x3	ACTL8, AKR7A2 +22 more	Copy number gain	not provided	GUncertain significance
Select item 2685031	GRCh37/hg19 1p36.13-36.12(chr1:17291707-23016395)x4	ACTL8, AKR7A2 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2424757	NC_000001.10:g.(?_19199339)_(22987879_?)dup	AKR7A2, AKR7A3 +49 more	Duplication	Congenital disorder of glycosylation type Ir +2 more	GUncertain significance
Select item 2422561	NC_000001.10:g.(?_19199339)_(24690861_?)dup	AKR7A2, AKR7A3 +77 more	Duplication	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 1228381	GRCh37/hg19 1p36.13-36.12(chr1:16785250-23491592)x1	FAM43B, HP1BP3 +77 more	Copy number loss	1p36.1 deletion syndrome	GPathogenic
Select item 980392	GRCh37/hg19 1p36.21-36.12(chr1:16041431-21295864)x1	EMC1, EPHA2 +73 more	Copy number loss	not provided	GPathogenic
Select item 980391	GRCh37/hg19 1p36.13-36.12(chr1:17284906-21778495)x1	AKR7A3, AKR7L +51 more	Copy number loss	not provided	GPathogenic
Select item 814062	GRCh37/hg19 1p36.13-36.12(chr1:20100416-20549013)x3	PLA2G2F, PLA2G5 +8 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	NKAIN1, PLA2G2E +783 more	Copy number gain	Global developmental delay +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 253734	GRCh37/hg19 1p36.13-36.12(chr1:19809419-20418333)x3	TMCO4, HTR6 +9 more	Copy number gain	See cases	GUncertain significance
Select item 221359	chr1:17555508-24706269 complex variant	ACTL8, AKR7A2 +88 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 37