ClinVar for Gene (Select 84883) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3278972	NM_032797.6(AIFM2):c.973G>A (p.Ala325Thr)	AIFM2 (A325T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278962	NM_032797.6(AIFM2):c.812A>C (p.His271Pro)	AIFM2 (H271P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278951	NM_032797.6(AIFM2):c.601G>A (p.Val201Met)	AIFM2 (V201M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278941	NM_032797.6(AIFM2):c.296C>T (p.Ala99Val)	AIFM2 (A99V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278933	NM_032797.6(AIFM2):c.161G>A (p.Arg54Gln)	AIFM2 (R54Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278924	NM_032797.6(AIFM2):c.947G>A (p.Arg316Gln)	AIFM2 (R316Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102647	NM_032797.6(AIFM2):c.968C>T (p.Pro323Leu)	AIFM2 (P323L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102630	NM_032797.6(AIFM2):c.566G>A (p.Arg189Gln)	AIFM2 (R189Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102620	NM_032797.6(AIFM2):c.49G>A (p.Val17Met)	AIFM2 (V17M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102608	NM_032797.6(AIFM2):c.35T>C (p.Leu12Pro)	AIFM2 (L12P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102602	NM_032797.6(AIFM2):c.227A>T (p.Asn76Ile)	AIFM2 (N76I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102593	NM_032797.6(AIFM2):c.17C>T (p.Ser6Leu)	AIFM2 (S6L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102589	NM_032797.6(AIFM2):c.146A>G (p.Asn49Ser)	AIFM2 (N49S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102587	NM_032797.6(AIFM2):c.125T>C (p.Met42Thr)	AIFM2 (M42T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102582	NM_032797.6(AIFM2):c.1088C>T (p.Thr363Met)	AIFM2 (T363M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102578	NM_032797.6(AIFM2):c.1069C>T (p.Arg357Trp)	AIFM2 (R357W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102572	NM_032797.6(AIFM2):c.1042C>T (p.Arg348Trp)	AIFM2 (R348W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2600192	NM_032797.6(AIFM2):c.913G>A (p.Ala305Thr)	AIFM2 (A305T)	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 2557667	NM_032797.6(AIFM2):c.370A>G (p.Ser124Gly)	AIFM2 (S124G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521827	NM_032797.6(AIFM2):c.758G>A (p.Arg253His)	AIFM2 (R253H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466969	NM_032797.6(AIFM2):c.562G>A (p.Val188Ile)	AIFM2 (V188I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466335	NM_032797.6(AIFM2):c.865G>A (p.Val289Met)	AIFM2 (V289M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400417	NM_032797.6(AIFM2):c.920C>T (p.Ala307Val)	AIFM2 (A307V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398448	NM_032797.6(AIFM2):c.971G>A (p.Gly324Asp)	AIFM2 (G324D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384056	NM_032797.6(AIFM2):c.326C>T (p.Thr109Met)	AIFM2 (T109M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374497	NM_032797.6(AIFM2):c.26C>T (p.Ser9Leu)	AIFM2 (S9L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371701	NM_032797.6(AIFM2):c.662G>A (p.Arg221Gln)	AIFM2 (R221Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351407	NM_032797.6(AIFM2):c.565C>T (p.Arg189Trp)	AIFM2 (R189W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331450	NM_032797.6(AIFM2):c.949C>G (p.Pro317Ala)	AIFM2 (P317A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272180	NM_032797.6(AIFM2):c.184G>A (p.Ala62Thr)	AIFM2 (A62T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264288	NM_032797.6(AIFM2):c.44T>C (p.Val15Ala)	AIFM2 (V15A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216277	NM_032797.6(AIFM2):c.1043G>A (p.Arg348Gln)	AIFM2 (R348Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527589	GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714)	ADAMTS14, ADK +91 more	Copy number loss	not specified	GPathogenic
Select item 1340135	GRCh37/hg19 10q22.1(chr10:71754361-72399690)x3	AIFM2, EIF4EBP2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 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 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 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 57436	GRCh38/hg38 10q22.1(chr10:70036168-70522664)x3	AIFM2, EIF4EBP2 +37 more	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 48