Related gene-specific medical variations for Gene (Select 221191) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3219920	NM_001305173.2(PRSS54):c.908A>G (p.Asp303Gly)	CFAP263, PRSS54 (D204G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219919	NM_001305173.2(PRSS54):c.821C>G (p.Pro274Arg)	CFAP263, PRSS54 (P274R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219918	NM_001305173.2(PRSS54):c.742T>G (p.Cys248Gly)	CFAP263, PRSS54 (C149G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531124	NM_001305173.2(PRSS54):c.1051G>A (p.Val351Ile)	CFAP263, PRSS54 (V252I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2493878	NM_001305173.2(PRSS54):c.1130A>T (p.Gln377Leu)	CFAP263, PRSS54 (Q278L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405357	NM_001305173.2(PRSS54):c.1078G>A (p.Gly360Ser)	CFAP263, PRSS54 (G360S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397060	NM_001305173.2(PRSS54):c.1046C>T (p.Ala349Val)	CFAP263, PRSS54 (A349V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2323217	NM_001305173.2(PRSS54):c.661C>G (p.Pro221Ala)	CFAP263, PRSS54 (P122A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264683	NM_001305173.2(PRSS54):c.953G>C (p.Arg318Thr)	CFAP263, PRSS54 (R318T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241718	NM_001305173.2(PRSS54):c.962C>T (p.Thr321Met)	CFAP263, PRSS54 (T222M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance