Related gene-specific medical variations for Gene (Select 56896) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361215	NM_020134.4(DPYSL5):c.265G>C (p.Ala89Pro)	DPYSL5 (A89P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361010	NM_020134.4(DPYSL5):c.655A>G (p.Ser219Gly)	DPYSL5 (S219G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3068160	NM_020134.4(DPYSL5):c.1139A>G (p.Asn380Ser)	DPYSL5 (N380S)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 4	GUncertain significance
Select item 2688970	NM_020134.4(DPYSL5):c.158C>G (p.Ala53Gly)	DPYSL5 (A53G)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 4	GUncertain significance
Select item 2582573	NM_020134.4(DPYSL5):c.-122G>T	DPYSL5	Single nucleotide variant (5 prime UTR variant)	Ritscher-Schinzel syndrome 4	GUncertain significance
Select item 2441716	NM_020134.4(DPYSL5):c.323C>T (p.Ser108Phe)	DPYSL5 (S108F)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 4	GUncertain significance
Select item 2429985	NM_020134.4(DPYSL5):c.600+2C>T	DPYSL5	Single nucleotide variant (splice donor variant)	Autism spectrum disorder	GLikely benign
Select item 1330429	NM_020134.4(DPYSL5):c.1669G>A (p.Gly557Arg)	DPYSL5 (G557R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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