12383[HGNC] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155714	GRCh38/hg38 2p25.3(chr2:12770-4318861)x3	ACP1, ADI1 +104 more	Copy number gain	See cases	GUncertain significance
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	LOC129933244, LOC129933245 +653 more	Copy number gain	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 152693	GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3	ACP1, ADAM17 +498 more	Copy number gain	See cases	GPathogenic
Select item 152440	GRCh38/hg38 2p25.3-25.2(chr2:17019-4957745)x3	ACP1, ADI1 +108 more	Copy number gain	See cases	GLikely pathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933186, LOC129933187 +736 more	Copy number gain	See cases	GPathogenic
Select item 154668	GRCh38/hg38 2p25.3-25.2(chr2:30341-4642399)x3	ACP1, ADI1 +107 more	Copy number gain	See cases	GPathogenic
Select item 146223	GRCh38/hg38 2p25.3(chr2:30341-3449132)x1	ACP1, ALKAL2 +75 more	Copy number loss	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 144454	GRCh38/hg38 2p25.3-25.2(chr2:30341-4932359)x3	ACP1, ADI1 +108 more	Copy number gain	See cases	GPathogenic
Select item 59131	GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3	ACP1, ADAM17 +413 more	Copy number gain	See cases	GPathogenic
Select item 60104	GRCh38/hg38 2p25.3(chr2:50661-3293835)x1	ACP1, ALKAL2 +68 more	Copy number loss	See cases	GPathogenic
Select item 59132	GRCh38/hg38 2p25.3-25.1(chr2:50661-9652907)x3	LOC129933017, LOC129933018 +237 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 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	ADAM17, ADI1 +546 more	Copy number gain	See cases	GPathogenic
Select item 149083	GRCh38/hg38 2p25.3(chr2:1844295-3488792)x3	EIPR1, LINC01250 +30 more	Copy number gain	See cases	GUncertain significance
Select item 58810	GRCh38/hg38 2p25.3(chr2:2542162-3678127)x3	ADI1, ALLC +44 more	Copy number gain	See cases	GUncertain significance
Select item 149319	GRCh38/hg38 2p25.3-25.2(chr2:2797196-4697562)x3	ADI1, ALLC +55 more	Copy number gain	See cases	GUncertain significance
Select item 3088095	NM_003310.5(EIPR1):c.1048G>A (p.Val350Ile)	EIPR1 (V377I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088109	NM_003310.5(EIPR1):c.931G>A (p.Gly311Ser)	EIPR1 (G167S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088107	NM_003310.5(EIPR1):c.835C>T (p.Arg279Cys)	EIPR1 (R135C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650632	NM_003310.5(EIPR1):c.741C>T (p.Cys247=)	EIPR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3088106	NM_003310.5(EIPR1):c.730T>G (p.Leu244Val)	EIPR1 (L271V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088103	NM_003310.5(EIPR1):c.566C>T (p.Ser189Leu)	EIPR1 (S189L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088102	NM_003310.5(EIPR1):c.530C>T (p.Ala177Val)	EIPR1 (A33V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088101	NM_003310.5(EIPR1):c.391A>G (p.Asn131Asp)	EIPR1 (N158D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088100	NM_003310.5(EIPR1):c.334T>C (p.Ser112Pro)	EIPR1 (S139P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088099	NM_003310.5(EIPR1):c.292G>T (p.Val98Leu)	EIPR1 (V125L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088098	NM_003310.5(EIPR1):c.292G>A (p.Val98Met)	EIPR1 (V125M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 151427	GRCh38/hg38 2p25.3(chr2:3288311-3410171)x3	EIPR1, LOC129932993 +5 more	Copy number gain	See cases	GLikely benign
Select item 58836	GRCh38/hg38 2p25.3(chr2:3293776-3858635)x3	ADI1, ALLC +29 more	Copy number gain	See cases	GUncertain significance
Select item 3088097	NM_003310.5(EIPR1):c.232G>A (p.Gly78Ser)	EIPR1 (G78S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088096	NM_003310.5(EIPR1):c.188A>G (p.Gln63Arg)	EIPR1 (Q63R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088108	NM_003310.5(EIPR1):c.85C>T (p.Arg29Trp)	EIPR1 (R29W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088105	NM_003310.5(EIPR1):c.67G>T (p.Ala23Ser)	EIPR1 (A23S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1808502	GRCh37/hg19 2p25.3(chr2:3293810-3488006)x1	EIPR1, TRAPPC12	Copy number loss	not provided	GUncertain significance
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 1527748	GRCh37/hg19 2p25.3(chr2:3121150-3354750)	EIPR1	Copy number loss	not specified	GUncertain significance
Select item 1340912	GRCh37/hg19 2p25.3(chr2:3281275-3394543)x1	EIPR1, TRAPPC12	Copy number loss	not provided	GUncertain significance
Select item 980463	GRCh37/hg19 2p25.3-25.2(chr2:2529149-5511339)x3	ADI1, ALLC +6 more	Copy number gain	not provided	GUncertain significance
Select item 980458	GRCh37/hg19 2p25.3(chr2:2074335-3934366)x3	ADI1, ALLC +7 more	Copy number gain	not provided	GPathogenic
Select item 814212	GRCh37/hg19 2p25.3(chr2:3202277-3397677)x1	EIPR1, TRAPPC12	Copy number loss	not provided	GUncertain significance
Select item 814211	GRCh37/hg19 2p25.3(chr2:3001017-3494850)x3	TRAPPC12, EIPR1	Copy number gain	not provided	GLikely benign
Select item 814209	GRCh37/hg19 2p25.3(chr2:1045542-4104255)x3	ADI1, ALLC +10 more	Copy number gain	not provided	GUncertain significance
Select item 687308	GRCh37/hg19 2p25.3(chr2:3297005-3424503)x1	EIPR1, TRAPPC12	Copy number loss	not provided	GUncertain significance
Select item 686549	GRCh37/hg19 2p25.3-25.1(chr2:12770-7502796)x3	ACP1, ADI1 +19 more	Copy number gain	not provided	GPathogenic
Select item 686548	GRCh37/hg19 2p25.3-25.1(chr2:12770-7502796)x3	ACP1, ADI1 +19 more	Copy number gain	not provided	GPathogenic
Select item 686201	GRCh37/hg19 2p25.3(chr2:12770-3819558)x3	ACP1, ADI1 +15 more	Copy number gain	not provided	GUncertain significance
Select item 562667	GRCh37/hg19 2p25.3-25.2(chr2:12770-4823625)x3	ACP1, ADI1 +15 more	Copy number gain	not provided	GPathogenic
Select item 562616	GRCh37/hg19 2p25.3(chr2:2612107-3455133)x3	TRAPPC12, EIPR1	Copy number gain	not provided	GUncertain significance
Select item 443675	GRCh37/hg19 2p25.3-24.1(chr2:12770-20081474)x3	ACP1, ADAM17 +65 more	Copy number gain	See cases	GPathogenic
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: 56