7349[Gene ID] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	ABHD1, ACP1 +1047 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	C2orf48, C2orf50 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	ABCG5, ABCG8 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
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 2592553	NM_003353.4(UCN):c.338A>T (p.Glu113Val)	UCN (E113V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185964	NM_003353.4(UCN):c.310C>T (p.Arg104Trp)	UCN (R104W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549373	NM_003353.4(UCN):c.245G>A (p.Arg82Gln)	UCN (R82Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459821	NM_003353.4(UCN):c.220G>A (p.Gly74Arg)	UCN (G74R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3185962	NM_003353.4(UCN):c.212T>C (p.Leu71Ser)	UCN (L71S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185961	NM_003353.4(UCN):c.194G>A (p.Arg65His)	UCN (R65H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410204	NM_003353.4(UCN):c.160C>G (p.Leu54Val)	UCN (L54V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207733	NM_003353.4(UCN):c.76A>G (p.Arg26Gly)	UCN (R26G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185965	NM_003353.4(UCN):c.58T>G (p.Cys20Gly)	UCN (C20G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 593343	NM_002437.5(MPV17):c.376-9T>G	MPV17, TRIM54 +1 more	Single nucleotide variant (intron variant)	MPV17-related mitochondrial DNA maintenance defect +2 more	GConflicting classifications of pathogenicity
Select item 2430184	NM_002437.5(MPV17):c.210C>A (p.Tyr70Ter)	MPV17, UCN (Y70*)	Single nucleotide variant (nonsense)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) +1 more	GPathogenic
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 2427541	NC_000002.11:g.(?_24443763)_(29022169_?)dup	ZNF513, SLC5A6 +65 more	Duplication	not provided	GUncertain significance
Select item 2425074	NC_000002.11:g.(?_24443763)_(30143525_?)dup	SLC4A1AP, OTOF +72 more	Duplication	not provided	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	HADHA, HADHB +131 more	Copy number gain	not provided	GLikely pathogenic
Select item 814225	GRCh37/hg19 2p23.3(chr2:27519013-27610482)x1	PPM1G, GTF3C2 +6 more	Copy number loss	not provided	GUncertain significance
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

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Items: 28