ClinVar for Gene (Select 285126) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3084593	NM_173650.3(DNAJC5G):c.544G>A (p.Glu182Lys)	DNAJC5G (E182K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3084592	NM_173650.3(DNAJC5G):c.385A>G (p.Ile129Val)	DNAJC5G (I129V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2511563	NM_173650.3(DNAJC5G):c.28C>T (p.Arg10Trp)	DNAJC5G (R10W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455708	NM_173650.3(DNAJC5G):c.175C>T (p.Arg59Trp)	DNAJC5G (R59W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2427541	NC_000002.11:g.(?_24443763)_(29022169_?)dup	ABHD1, ADCY3 +65 more	Duplication	not provided	GUncertain significance
Select item 2425074	NC_000002.11:g.(?_24443763)_(30143525_?)dup	ADGRF3, AGBL5 +72 more	Duplication	not provided	GUncertain significance
Select item 2376356	NM_173650.3(DNAJC5G):c.236A>G (p.Asn79Ser)	DNAJC5G (N79S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351213	NM_173650.3(DNAJC5G):c.88C>T (p.Pro30Ser)	DNAJC5G (P30S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322786	NM_173650.3(DNAJC5G):c.529T>G (p.Cys177Gly)	DNAJC5G (C177G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2321783	NM_173650.3(DNAJC5G):c.337G>A (p.Val113Ile)	DNAJC5G (V113I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290544	NM_173650.3(DNAJC5G):c.176G>A (p.Arg59Gln)	DNAJC5G (R59Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2285646	NM_173650.3(DNAJC5G):c.377C>A (p.Thr126Lys)	DNAJC5G (H39N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250926	NM_173650.3(DNAJC5G):c.272G>A (p.Arg91Gln)	DNAJC5G (R91Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1220534	GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3	OTOF, OXER1 +131 more	Copy number gain	See cases	GPathogenic
Select item 1176757	GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3	DNAJC27, DNAJC5G +131 more	Copy number gain	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 153817	GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1	TRY-GTA2-1, UBXN2A +321 more	Copy number loss	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 58840	GRCh38/hg38 2p23.3(chr2:25759602-27297636)x3	ABHD1, ADGRF3 +99 more	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 28