ClinVar for MedGen (Select 1794149) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2431728	NM_020134.4(DPYSL5):c.395T>C (p.Val132Ala)	DPYSL5 (V132A)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 4	GUncertain significance
Select item 1330199	GRCh37/hg19 2p23.3(chr2:26860458-27346266)x1	EMILIN1, AGBL5 +10 more	Copy number loss	Ritscher-Schinzel syndrome 4	GUncertain significance
Select item 1184280	NM_020134.4(DPYSL5):c.121G>A (p.Glu41Lys)	DPYSL5 (E41K)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 4 +1 more	GConflicting classifications of pathogenicity
Select item 632587	NM_020134.4(DPYSL5):c.139G>A (p.Gly47Arg)	DPYSL5 (G47R)	Single nucleotide variant (missense variant)	Dandy-Walker syndrome +3 more	GConflicting classifications of pathogenicity

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