ClinVar for Gene (Select 57678) - ClinVar

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Links from Gene

Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3282029	NM_001244949.2(GPAM):c.167T>A (p.Met56Lys)	GPAM (M56K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282028	NM_001244949.2(GPAM):c.1149A>T (p.Arg383Ser)	GPAM (R383S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282027	NM_001244949.2(GPAM):c.2110T>C (p.Cys704Arg)	GPAM (C704R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282026	NM_001244949.2(GPAM):c.929T>G (p.Leu310Trp)	GPAM (L310W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101099	NM_001244949.2(GPAM):c.593A>T (p.Asn198Ile)	GPAM (N198I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101097	NM_001244949.2(GPAM):c.2282C>T (p.Thr761Ile)	GPAM (T761I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101096	NM_001244949.2(GPAM):c.1954C>A (p.Gln652Lys)	GPAM (Q652K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101095	NM_001244949.2(GPAM):c.1669A>G (p.Ile557Val)	GPAM (I557V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101094	NM_001244949.2(GPAM):c.1499T>C (p.Ile500Thr)	GPAM (I500T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063174	GRCh37/hg19 10q25.2(chr10:113210605-114138029)x3	ACSL5, GPAM +1 more	Copy number gain	not specified	GUncertain significance
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063162	GRCh37/hg19 10q25.1-26.13(chr10:107129993-123817654)x3	ABLIM1, ACSL5 +70 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684622	GRCh37/hg19 10q25.2(chr10:113694296-114349917)x3	ACSL5, GPAM +3 more	Copy number gain	not provided	GUncertain significance
Select item 2684621	GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3	ABLIM1, ABRAXAS2 +117 more	Copy number gain	not provided	GPathogenic
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2614468	NM_001244949.2(GPAM):c.734G>A (p.Cys245Tyr)	GPAM (C245Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606525	NM_001244949.2(GPAM):c.1543G>A (p.Glu515Lys)	GPAM (E515K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589797	NM_001244949.2(GPAM):c.976T>C (p.Cys326Arg)	GPAM (C326R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2547592	NM_001244949.2(GPAM):c.1849C>G (p.Arg617Gly)	GPAM (R617G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546683	NM_001244949.2(GPAM):c.2399T>G (p.Val800Gly)	GPAM (V800G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531717	NM_001244949.2(GPAM):c.1067A>G (p.Tyr356Cys)	GPAM (Y356C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493774	NM_001244949.2(GPAM):c.1490G>C (p.Arg497Thr)	GPAM (R497T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484528	NM_001244949.2(GPAM):c.14C>T (p.Ala5Val)	GPAM (A5V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484527	NM_001244949.2(GPAM):c.13G>C (p.Ala5Pro)	GPAM (A5P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483921	NM_001244949.2(GPAM):c.1733A>G (p.His578Arg)	GPAM (H578R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481121	NM_001244949.2(GPAM):c.979G>A (p.Ala327Thr)	GPAM (A327T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456272	NM_001244949.2(GPAM):c.2270A>G (p.Lys757Arg)	GPAM (K757R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398321	NM_001244949.2(GPAM):c.914G>A (p.Arg305Gln)	GPAM (R305Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391361	NM_001244949.2(GPAM):c.1549C>G (p.Leu517Val)	GPAM (L517V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362103	NM_001244949.2(GPAM):c.1325A>G (p.Asp442Gly)	GPAM (D442G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360964	NM_001244949.2(GPAM):c.457G>C (p.Asp153His)	GPAM (D153H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356351	NM_001244949.2(GPAM):c.304C>T (p.Arg102Cys)	GPAM (R102C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342454	NM_001244949.2(GPAM):c.431C>T (p.Ala144Val)	GPAM (A144V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342359	NM_001244949.2(GPAM):c.1271T>C (p.Leu424Pro)	GPAM (L424P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331760	NM_001244949.2(GPAM):c.133A>G (p.Arg45Gly)	GPAM (R45G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320580	NM_001244949.2(GPAM):c.407G>A (p.Ser136Asn)	GPAM (S136N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292066	NM_001244949.2(GPAM):c.1856C>T (p.Ala619Val)	GPAM (A619V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261506	NM_001244949.2(GPAM):c.286G>A (p.Glu96Lys)	GPAM (E96K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250574	NM_001244949.2(GPAM):c.1657G>C (p.Asp553His)	GPAM (D553H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234846	NM_001244949.2(GPAM):c.837G>C (p.Arg279Ser)	GPAM (R279S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223799	NM_001244949.2(GPAM):c.2278A>G (p.Ile760Val)	GPAM (I760V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2215410	NM_001244949.2(GPAM):c.1243C>A (p.Gln415Lys)	GPAM (Q415K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 1527599	GRCh37/hg19 10q24.32-25.3(chr10:104030479-115410590)	C10orf95, CALHM1 +57 more	Copy number loss	not specified	GPathogenic
Select item 1340153	GRCh37/hg19 10q25.1-25.3(chr10:107092654-117852548)x1	ABLIM1, ACSL5 +32 more	Copy number loss	not provided	GUncertain significance
Select item 1285804	NM_001244949.2(GPAM):c.127A>G (p.Ile43Val)	GPAM (I43V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 776543	NM_001244949.2(GPAM):c.1197T>C (p.Asp399=)	GPAM	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776542	NM_001244949.2(GPAM):c.1222-13dup	GPAM	Duplication (intron variant)	not provided	GBenign
Select item 776541	NM_001244949.2(GPAM):c.1259C>T (p.Ala420Val)	GPAM (A420V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 625657	GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not provided	GPathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 563801	GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3	ABLIM1, ABRAXAS2 +157 more	Copy number gain	not provided	GPathogenic
Select item 563750	GRCh37/hg19 10q25.2(chr10:113564568-114088384)x3	GPAM, TECTB	Copy number gain	not provided	GUncertain significance
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443838	GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3	ABLIM1, ABRAXAS2 +151 more	Copy number gain	See cases	GPathogenic
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic
Select item 155304	GRCh38/hg38 10q24.32-25.3(chr10:102732173-114085105)x1	LOC124416905, LOC124416906 +318 more	Copy number loss	See cases	GPathogenic
Select item 151000	GRCh38/hg38 10q25.2-25.3(chr10:110804735-114884010)x1	ABLIM1, ACSL5 +134 more	Copy number loss	See cases	GLikely pathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 146710	GRCh38/hg38 10q25.2-25.3(chr10:112074094-115537174)x1	LOC130004765, LOC130004766 +109 more	Copy number loss	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 58782	GRCh38/hg38 10q25.1-26.11(chr10:107191100-118761489)x1	ABLIM1, ACSL5 +308 more	Copy number loss	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 71