ClinVar for Gene (Select 27243) - ClinVar - NCBI

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Links from Gene

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3144439	NM_014453.4(CHMP2A):c.559G>C (p.Gly187Arg)	CHMP2A (G187R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611490	NM_014453.4(CHMP2A):c.198G>C (p.Leu66Phe)	CHMP2A (L66F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483424	NM_014453.4(CHMP2A):c.257T>C (p.Val86Ala)	CHMP2A (V86A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473456	NM_014453.4(CHMP2A):c.156G>C (p.Lys52Asn)	CHMP2A (K52N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401580	NM_014453.4(CHMP2A):c.659G>A (p.Arg220Gln)	CHMP2A (R220Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347202	NM_014453.4(CHMP2A):c.426G>A (p.Met142Ile)	CHMP2A (M142I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258816	NM_014453.4(CHMP2A):c.339G>A (p.Met113Ile)	CHMP2A (M113I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	A1BG, A1BG-AS1 +782 more	Copy number gain	See cases	GPathogenic
Select item 145872	GRCh38/hg38 19q13.43(chr19:58407283-58581129)x1	LOC130065239, LOC130065240 +41 more	Copy number loss	See cases	GLikely benign
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	SSC5D, SYT5 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	TMC4, TMEM150B +537 more	Copy number gain	See cases	GPathogenic
Select item 144244	GRCh38/hg38 19q13.43(chr19:58548841-58581203)x3	CHMP2A, LOC130065240 +12 more	Copy number gain	See cases	GBenign
Select item 59128	GRCh38/hg38 19q13.43(chr19:56363208-58581203)x3	A1BG, A1BG-AS1 +215 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	MIR10394, MIR125A +806 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic