21411[HGNC] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 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 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 57436	GRCh38/hg38 10q22.1(chr10:70036168-70522664)x3	AIFM2, EIF4EBP2 +37 more	Copy number gain	See cases	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 2216277	NM_032797.6(AIFM2):c.1043G>A (p.Arg348Gln)	AIFM2 (R348Q)	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 3278972	NM_032797.6(AIFM2):c.973G>A (p.Ala325Thr)	AIFM2 (A325T)	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 3102647	NM_032797.6(AIFM2):c.968C>T (p.Pro323Leu)	AIFM2 (P323L)	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 3278924	NM_032797.6(AIFM2):c.947G>A (p.Arg316Gln)	AIFM2 (R316Q)	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 2600192	NM_032797.6(AIFM2):c.913G>A (p.Ala305Thr)	AIFM2 (A305T)	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 3278962	NM_032797.6(AIFM2):c.812A>C (p.His271Pro)	AIFM2 (H271P)	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 2371701	NM_032797.6(AIFM2):c.662G>A (p.Arg221Gln)	AIFM2 (R221Q)	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 3102630	NM_032797.6(AIFM2):c.566G>A (p.Arg189Gln)	AIFM2 (R189Q)	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 2466969	NM_032797.6(AIFM2):c.562G>A (p.Val188Ile)	AIFM2 (V188I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2384056	NM_032797.6(AIFM2):c.326C>T (p.Thr109Met)	AIFM2 (T109M)	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 3102602	NM_032797.6(AIFM2):c.227A>T (p.Asn76Ile)	AIFM2 (N76I)	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 3278933	NM_032797.6(AIFM2):c.161G>A (p.Arg54Gln)	AIFM2 (R54Q)	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 3102620	NM_032797.6(AIFM2):c.49G>A (p.Val17Met)	AIFM2 (V17M)	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 3102608	NM_032797.6(AIFM2):c.35T>C (p.Leu12Pro)	AIFM2 (L12P)	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 3102593	NM_032797.6(AIFM2):c.17C>T (p.Ser6Leu)	AIFM2 (S6L)	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 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 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

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Items: 48