GPM6A[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2222989	NM_201591.3(GPM6A):c.742A>G (p.Met248Val)	GPM6A (M248V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621489	NM_201591.3(GPM6A):c.739C>G (p.Arg247Gly)	GPM6A (R184G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620456	NM_201591.3(GPM6A):c.32A>C (p.Gln11Pro)	GPM6A (Q11P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 563005	GRCh37/hg19 4q34.2(chr4:176627749-176831055)x3	GPM6A	Copy number gain	not provided	GUncertain significance

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