ALLC[gene] - ClinVar

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Items: 65

	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 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 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 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 58836	GRCh38/hg38 2p25.3(chr2:3293776-3858635)x3	ADI1, ALLC +29 more	Copy number gain	See cases	GUncertain significance
Select item 145551	GRCh38/hg38 2p25.3(chr2:3522147-3849658)x3	ALLC, COLEC11 +18 more	Copy number gain	See cases	GUncertain significance
Select item 2460744	NM_018436.4(ALLC):c.19T>A (p.Ser7Thr)	ALLC (S7T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389610	NM_018436.4(ALLC):c.26G>C (p.Gly9Ala)	ALLC (G9A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112175	NM_018436.4(ALLC):c.95C>A (p.Pro32Gln)	ALLC (P32Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589958	NM_018436.4(ALLC):c.95C>G (p.Pro32Arg)	ALLC (P32R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557467	NM_018436.4(ALLC):c.97T>C (p.Cys33Arg)	ALLC (C33R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357133	NM_018436.4(ALLC):c.217C>T (p.Arg73Trp)	ALLC (R73W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287046	NM_018436.4(ALLC):c.220G>A (p.Gly74Ser)	ALLC (G74S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112125	NM_018436.4(ALLC):c.239C>G (p.Ser80Cys)	ALLC (S80C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400052	NM_018436.4(ALLC):c.284C>A (p.Ala95Glu)	ALLC (A95E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112135	NM_018436.4(ALLC):c.372T>G (p.Ile124Met)	ALLC (I124M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383453	NM_018436.4(ALLC):c.436C>G (p.Pro146Ala)	ALLC (P146A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287035	NM_018436.4(ALLC):c.461T>A (p.Leu154His)	ALLC (L154H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213203	NM_018436.4(ALLC):c.467A>G (p.Asn156Ser)	ALLC (N156S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262238	NM_018436.4(ALLC):c.513T>A (p.Asp171Glu)	ALLC (D171E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112146	NM_018436.4(ALLC):c.542G>T (p.Gly181Val)	ALLC (G181V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301597	NM_018436.4(ALLC):c.610G>A (p.Gly204Arg)	ALLC (G204R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524323	NM_018436.4(ALLC):c.721G>T (p.Asp241Tyr)	ALLC (D241Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359959	NM_018436.4(ALLC):c.724C>T (p.Arg242Trp)	ALLC (R242W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376386	NM_018436.4(ALLC):c.725G>A (p.Arg242Gln)	ALLC (R242Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615118	NM_018436.4(ALLC):c.737T>C (p.Leu246Ser)	ALLC (L246S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112159	NM_018436.4(ALLC):c.750G>C (p.Glu250Asp)	ALLC (E250D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 780812	NM_018436.4(ALLC):c.794G>A (p.Arg265Gln)	ALLC (R265Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3112162	NM_018436.4(ALLC):c.804T>A (p.His268Gln)	ALLC (H268Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780813	NM_018436.4(ALLC):c.868T>C (p.Cys290Arg)	ALLC (C290R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2206997	NM_018436.4(ALLC):c.938C>T (p.Pro313Leu)	ALLC (P313L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510807	NM_018436.4(ALLC):c.955C>G (p.Pro319Ala)	ALLC (P319A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287024	NM_018436.4(ALLC):c.971C>T (p.Thr324Ile)	ALLC (T324I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650637	NM_018436.4(ALLC):c.975+4C>T	ALLC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2560181	NM_018436.4(ALLC):c.1012A>T (p.Thr338Ser)	ALLC (T338S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397553	NM_018436.4(ALLC):c.1054A>G (p.Ile352Val)	ALLC (I352V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112116	NM_018436.4(ALLC):c.1121G>A (p.Arg374Lys)	ALLC (R374K)	Single nucleotide variant (missense variant)	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 2684409	GRCh37/hg19 2p25.3(chr2:3682085-3782675)x1	ALLC, COLEC11 +1 more	Copy number loss	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 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1527759	GRCh37/hg19 2p25.3(chr2:3498882-3800549)	ADI1, ALLC +4 more	Copy number gain	not specified	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 980462	GRCh37/hg19 2p25.3-25.2(chr2:3385474-4974948)x3	ADI1, ALLC +5 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 814209	GRCh37/hg19 2p25.3(chr2:1045542-4104255)x3	ADI1, ALLC +10 more	Copy number gain	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 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: 65