24090[HGNC] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 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 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 58840	GRCh38/hg38 2p23.3(chr2:25759602-27297636)x3	ABHD1, ADGRF3 +99 more	Copy number gain	See cases	GUncertain significance
Select item 3332398	NM_001170795.4(ATRAID):c.-161A>G	ATRAID, SLC5A6	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3132108	NM_001170795.4(ATRAID):c.-123A>C	ATRAID, LOC129933365 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2471799	NM_001170795.4(ATRAID):c.-74G>C	ATRAID, LOC129933365 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2313791	NM_001170795.4(ATRAID):c.-71G>A	ATRAID, LOC129933365 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2292864	NM_001170795.4(ATRAID):c.-44C>G	ATRAID, LOC129933365 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2379207	NM_001170795.4(ATRAID):c.-38C>T	ATRAID, LOC129933365 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2463462	NM_001170795.4(ATRAID):c.-24A>T	ATRAID, LOC129933365 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2481274	NM_001170795.4(ATRAID):c.13G>T (p.Asp5Tyr)	ATRAID, LOC129933365 +1 more (D5Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132107	NM_001170795.4(ATRAID):c.25C>T (p.Leu9Phe)	ATRAID, LOC129933365 +1 more (L9F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282359	NM_001170795.4(ATRAID):c.79A>G (p.Arg27Gly)	ATRAID, LOC129933365 +1 more (R27G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471955	NM_001170795.4(ATRAID):c.97G>A (p.Glu33Lys)	ATRAID, SLC5A6 (E33K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409787	NM_001170795.4(ATRAID):c.125T>C (p.Val42Ala)	ATRAID (V42A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329988	NM_001170795.4(ATRAID):c.145G>C (p.Ala49Pro)	ATRAID (A49P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332378	NM_001170795.4(ATRAID):c.200A>G (p.Asn67Ser)	ATRAID (N67S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455897	NM_001170795.4(ATRAID):c.319G>A (p.Gly107Ser)	ATRAID (G49S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558217	NM_001170795.4(ATRAID):c.340C>T (p.Arg114Cys)	ATRAID (R114C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250586	NM_001170795.4(ATRAID):c.341G>A (p.Arg114His)	ATRAID (R56H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3332387	NM_001170795.4(ATRAID):c.367A>G (p.Ile123Val)	ATRAID (I123V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2354856	NM_001170795.4(ATRAID):c.382G>C (p.Val128Leu)	ATRAID (V128L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233010	NM_001170795.4(ATRAID):c.433G>T (p.Asp145Tyr)	ATRAID (D87Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132110	NM_001170795.4(ATRAID):c.458A>G (p.Lys153Arg)	ATRAID (K153R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3132111	NM_001170795.4(ATRAID):c.469A>G (p.Asn157Asp)	ATRAID (N157D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132112	NM_001170795.4(ATRAID):c.476C>G (p.Thr159Ser)	ATRAID (T101S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132113	NM_001170795.4(ATRAID):c.511T>C (p.Cys171Arg)	ATRAID (C171R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617463	NM_001170795.4(ATRAID):c.563A>T (p.His188Leu)	ATRAID (H188L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265109	NM_001170795.4(ATRAID):c.646A>T (p.Ile216Phe)	ATRAID (I216F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327813	NM_001170795.4(ATRAID):c.679A>G (p.Lys227Glu)	ATRAID (K169E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1246361	NM_001170795.4(ATRAID):c.*203del	ATRAID, CAD	Deletion (3 prime UTR variant)	not provided	GBenign
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 3062593	GRCh37/hg19 2p23.3(chr2:27319597-27459379)x3	ABHD1, ATRAID +7 more	Copy number gain	not specified	GUncertain significance
Select item 2427541	NC_000002.11:g.(?_24443763)_(29022169_?)dup	ZNF513, SLC5A6 +65 more	Duplication	not provided	GUncertain significance
Select item 2426685	NC_000002.11:g.(?_27275827)_(27457573_?)dup	ABHD1, AGBL5 +10 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	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

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Items: 47