Related gene-specific medical variations for Gene (Select 118987) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233588	NM_173791.5(PDZD8):c.249C>G (p.Ala83=)	LOC130004812, PDZD8	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3211192	NM_173791.5(PDZD8):c.296A>G (p.Asn99Ser)	LOC130004812, PDZD8 (N99S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640874	NM_173791.5(PDZD8):c.259C>G (p.Pro87Ala)	LOC130004812, PDZD8 (P87A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2493787	NM_173791.5(PDZD8):c.119G>C (p.Arg40Pro)	LOC130004812, PDZD8 (R40P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358881	NM_173791.5(PDZD8):c.241A>C (p.Thr81Pro)	LOC130004812, PDZD8 (T81P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343040	NM_173791.5(PDZD8):c.218C>T (p.Ala73Val)	LOC130004812, PDZD8 (A73V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1175418	NM_003054.6(SLC18A2):c.*232A>C	PDZD8, SLC18A2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign

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