ClinVar for Gene (Select 57700) - ClinVar

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Links from Gene

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3095040	NM_020940.4(FHIP2A):c.910T>A (p.Cys304Ser)	FHIP2A (C304S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095039	NM_020940.4(FHIP2A):c.835A>G (p.Lys279Glu)	FHIP2A (K279E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095038	NM_020940.4(FHIP2A):c.622C>T (p.Arg208Cys)	FHIP2A (R208C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3095037	NM_020940.4(FHIP2A):c.608A>C (p.Asp203Ala)	FHIP2A (D203A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095036	NM_020940.4(FHIP2A):c.2285C>T (p.Ser762Phe)	FHIP2A (S762F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095035	NM_020940.4(FHIP2A):c.2263G>T (p.Ala755Ser)	FHIP2A (A755S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095034	NM_020940.4(FHIP2A):c.2255C>T (p.Ala752Val)	FHIP2A (A752V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095033	NM_020940.4(FHIP2A):c.2087G>A (p.Arg696Lys)	FHIP2A (R696K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095032	NM_020940.4(FHIP2A):c.2053C>G (p.Pro685Ala)	FHIP2A (P685A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095031	NM_020940.4(FHIP2A):c.2050G>A (p.Ala684Thr)	FHIP2A (A684T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095030	NM_020940.4(FHIP2A):c.2012A>G (p.His671Arg)	FHIP2A (H671R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095029	NM_020940.4(FHIP2A):c.1902T>G (p.His634Gln)	FHIP2A (H634Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095028	NM_020940.4(FHIP2A):c.173A>G (p.Gln58Arg)	FHIP2A (Q58R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095027	NM_020940.4(FHIP2A):c.1429C>G (p.His477Asp)	FHIP2A (H477D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095026	NM_020940.4(FHIP2A):c.136C>G (p.Pro46Ala)	FHIP2A (P46A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095025	NM_020940.4(FHIP2A):c.1273G>A (p.Val425Ile)	FHIP2A (V425I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095024	NM_020940.4(FHIP2A):c.1219A>G (p.Ile407Val)	FHIP2A (I407V)	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 2640868	NM_020940.4(FHIP2A):c.1861T>C (p.Leu621=)	FHIP2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640867	NM_020940.4(FHIP2A):c.846A>G (p.Glu282=)	FHIP2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640866	NM_020940.4(FHIP2A):c.355C>T (p.Arg119Trp)	FHIP2A (R119W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2603798	NM_020940.4(FHIP2A):c.560A>G (p.Asn187Ser)	FHIP2A (N187S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2591062	NM_020940.4(FHIP2A):c.1646C>T (p.Ser549Leu)	FHIP2A (S549L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	PIK3AP1, SVIL +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	RRP12, USP54 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2570381	NM_020940.4(FHIP2A):c.1763G>A (p.Gly588Asp)	FHIP2A (G588D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543717	NM_020940.4(FHIP2A):c.355C>G (p.Arg119Gly)	FHIP2A (R119G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510752	NM_020940.4(FHIP2A):c.2162G>A (p.Arg721Gln)	FHIP2A (R721Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494932	NM_020940.4(FHIP2A):c.1787G>C (p.Arg596Pro)	FHIP2A (R596P)	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 1340153	GRCh37/hg19 10q25.1-25.3(chr10:107092654-117852548)x1	ABLIM1, ACSL5 +32 more	Copy number loss	not provided	GUncertain significance
Select item 688988	GRCh37/hg19 10q25.3(chr10:116643681-116879228)x3	ATRNL1, FHIP2A +1 more	Copy number gain	not provided	GUncertain significance
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 633777	NM_020940.4(FHIP2A):c.115G>T (p.Glu39Ter)	FHIP2A (E39*)	Single nucleotide variant (nonsense)	Syndromic intellectual disability	GLikely pathogenic
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 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)	A1CF, ABCC2 +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	BCCIP, BEND7 +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 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 148437	GRCh38/hg38 10q25.2-26.12(chr10:112701186-120970617)x3	LOC126861050, LOC126861051 +248 more	Copy number gain	See cases	GLikely pathogenic
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 146484	GRCh38/hg38 10q25.3(chr10:114584882-115096595)x3	ABLIM1, ATRNL1 +18 more	Copy number gain	See cases	GLikely benign
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

ClinVar

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Links from Gene

Items: 58