Related gene-specific medical variations for Gene (Select 670) - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3261365	NM_004332.4(BPHL):c.11T>G (p.Val4Gly)	BPHL, LOC129995633 (V4G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3261363	NM_004332.4(BPHL):c.34C>T (p.Arg12Cys)	BPHL, LOC129995633 (R12C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3134799	NM_004332.4(BPHL):c.75C>A (p.His25Gln)	BPHL, LOC129995633 (H25Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3134793	NM_004332.4(BPHL):c.35G>T (p.Arg12Leu)	BPHL, LOC129995633 (R12L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance

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