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

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3134792	NM_004332.4(BPHL):c.254A>G (p.Asn85Ser)	BPHL (N85S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281093	NM_004332.4(BPHL):c.341T>C (p.Phe114Ser)	BPHL (F114S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 709823	NM_004332.4(BPHL):c.380C>T (p.Ala127Val)	BPHL (A110V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2656183	NM_004332.4(BPHL):c.387G>A (p.Lys129=)	BPHL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2486154	NM_004332.4(BPHL):c.401C>G (p.Ser134Cys)	BPHL (S117C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134794	NM_004332.4(BPHL):c.436C>T (p.Leu146Phe)	BPHL (L146F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392837	NM_004332.4(BPHL):c.490G>A (p.Ala164Thr)	BPHL (A164T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134795	NM_004332.4(BPHL):c.506C>G (p.Thr169Ser)	BPHL (T152S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227675	NM_004332.4(BPHL):c.511G>A (p.Glu171Lys)	BPHL (E154K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212838	NM_004332.4(BPHL):c.517A>G (p.Ser173Gly)	BPHL (S156G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398385	NM_004332.4(BPHL):c.530A>G (p.Glu177Gly)	BPHL (E177G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3261364	NM_004332.4(BPHL):c.635G>A (p.Gly212Asp)	BPHL (G212D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282404	NM_004332.4(BPHL):c.659C>G (p.Pro220Arg)	BPHL (P220R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515135	NM_004332.4(BPHL):c.692G>A (p.Arg231Gln)	BPHL (R214Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3134797	NM_004332.4(BPHL):c.706G>T (p.Ala236Ser)	BPHL (A219S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252779	NM_004332.4(BPHL):c.713T>C (p.Ile238Thr)	BPHL (I221T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134798	NM_004332.4(BPHL):c.745C>T (p.Arg249Trp)	BPHL (R232W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509155	NM_004332.4(BPHL):c.829C>T (p.Arg277Cys)	BPHL (R260C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305745	NM_004332.4(BPHL):c.860A>T (p.Glu287Val)	BPHL (E287V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance