ClinVar for Gene (Select 5407) - ClinVar

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Links from Gene

Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3308133	NM_006229.4(PNLIPRP1):c.254T>C (p.Met85Thr)	PNLIPRP1 (M85T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3308132	NM_006229.4(PNLIPRP1):c.67G>A (p.Glu23Lys)	PNLIPRP1 (E23K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244903	NC_000010.10:g.(?_117823909)_(119750414_?)dup	CCDC172, EMX2 +14 more	Duplication	Microphthalmia, syndromic 11	GUncertain significance
Select item 3215925	NM_006229.4(PNLIPRP1):c.947C>T (p.Pro316Leu)	PNLIPRP1 (P316L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215924	NM_006229.4(PNLIPRP1):c.815G>A (p.Gly272Glu)	PNLIPRP1 (G272E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215923	NM_006229.4(PNLIPRP1):c.76G>C (p.Gly26Arg)	PNLIPRP1 (G26R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215922	NM_006229.4(PNLIPRP1):c.526G>A (p.Val176Met)	PNLIPRP1 (V176M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215921	NM_006229.4(PNLIPRP1):c.484C>T (p.Pro162Ser)	PNLIPRP1 (P162S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215920	NM_006229.4(PNLIPRP1):c.320A>G (p.Asp107Gly)	PNLIPRP1 (D107G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215919	NM_006229.4(PNLIPRP1):c.306G>C (p.Glu102Asp)	PNLIPRP1 (E102D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215918	NM_006229.4(PNLIPRP1):c.164G>A (p.Arg55His)	PNLIPRP1 (R55H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215917	NM_006229.4(PNLIPRP1):c.1294G>C (p.Val432Leu)	PNLIPRP1 (V432L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215916	NM_006229.4(PNLIPRP1):c.1131G>C (p.Leu377Phe)	PNLIPRP1 (L377F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215915	NM_006229.4(PNLIPRP1):c.1118T>A (p.Ile373Asn)	PNLIPRP1 (I373N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215914	NM_006229.4(PNLIPRP1):c.1082C>A (p.Ser361Tyr)	PNLIPRP1 (S361Y)	Single nucleotide variant (missense variant)	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 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 2623244	NM_006229.4(PNLIPRP1):c.485C>T (p.Pro162Leu)	PNLIPRP1 (P162L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620605	NM_006229.4(PNLIPRP1):c.470A>G (p.Glu157Gly)	PNLIPRP1 (E157G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609502	NM_006229.4(PNLIPRP1):c.613G>A (p.Glu205Lys)	PNLIPRP1 (E205K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603923	NM_006229.4(PNLIPRP1):c.998C>T (p.Ala333Val)	PNLIPRP1 (A333V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588342	NM_006229.4(PNLIPRP1):c.487T>G (p.Ser163Ala)	PNLIPRP1 (S163A)	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 2525767	NM_006229.4(PNLIPRP1):c.1060G>A (p.Ala354Thr)	PNLIPRP1 (A354T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2525600	NM_006229.4(PNLIPRP1):c.340G>A (p.Glu114Lys)	PNLIPRP1 (E114K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2520696	NM_006229.4(PNLIPRP1):c.104G>A (p.Gly35Asp)	PNLIPRP1 (G35D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475077	NM_006229.4(PNLIPRP1):c.325T>C (p.Cys109Arg)	PNLIPRP1 (C109R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468083	NM_006229.4(PNLIPRP1):c.71A>T (p.Asp24Val)	PNLIPRP1 (D24V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460864	NM_006229.4(PNLIPRP1):c.485C>G (p.Pro162Arg)	PNLIPRP1 (P162R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394951	NM_006229.4(PNLIPRP1):c.820C>T (p.Arg274Trp)	PNLIPRP1 (R274W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359943	NM_006229.4(PNLIPRP1):c.1238T>C (p.Ile413Thr)	PNLIPRP1 (I413T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344102	NM_006229.4(PNLIPRP1):c.520G>C (p.Ala174Pro)	PNLIPRP1 (A174P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303795	NM_006229.4(PNLIPRP1):c.431G>T (p.Gly144Val)	PNLIPRP1 (G144V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294767	NM_006229.4(PNLIPRP1):c.269G>A (p.Arg90Gln)	PNLIPRP1 (R90Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276633	NM_006229.4(PNLIPRP1):c.71A>G (p.Asp24Gly)	PNLIPRP1 (D24G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270984	NM_006229.4(PNLIPRP1):c.546C>G (p.Ser182Arg)	PNLIPRP1 (S182R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269697	NM_006229.4(PNLIPRP1):c.665C>T (p.Thr222Met)	PNLIPRP1 (T222M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208615	NM_006229.4(PNLIPRP1):c.623G>A (p.Arg208Gln)	PNLIPRP1 (R208Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207603	NM_006229.4(PNLIPRP1):c.157G>A (p.Gly53Ser)	PNLIPRP1 (G53S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527606	GRCh37/hg19 10q25.3-26.13(chr10:117019650-125217066)	ACADSB, ARMS2 +54 more	Copy number loss	not specified	GPathogenic
Select item 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 1180521	GRCh37/hg19 10q25.3-26.3(chr10:118247181-135435319)x3	ECHS1, EDRF1 +110 more	Copy number gain	not provided	GPathogenic
Select item 687114	GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3	ABLIM1, ABRAXAS2 +130 more	Copy number gain	not provided	GPathogenic
Select item 625657	GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not provided	GPathogenic
Select item 625556	GRCh37/hg19 10q25.3-26.13(chr10:117024753-124942806)	ACADSB, ARMS2 +54 more	Copy number loss	Distal 10q deletion syndrome	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 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 253831	GRCh37/hg19 10q25.3(chr10:118327326-118486839)x1	HSPA12A, C10orf82 +3 more	Copy number loss	See cases	GUncertain significance
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 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 148437	GRCh38/hg38 10q25.2-26.12(chr10:112701186-120970617)x3	LOC126861050, LOC126861051 +248 more	Copy number gain	See cases	GLikely pathogenic
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 57171	GRCh38/hg38 10q25.3(chr10:114584882-117015907)x1	ABLIM1, ATRNL1 +45 more	Copy number loss	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: 66