ClinVar for MedGen (Select 337030) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3237510	NM_000266.4(NDP):c.199G>T (p.Gly67Trp)	NDP, NDP-AS1 (G67W)	Single nucleotide variant (non-coding transcript variant +1 more)	Exudative vitreoretinopathy 2, X-linked	GPathogenic
Select item 522928	NM_000266.4(NDP):c.200G>T (p.Gly67Val)	NDP, NDP-AS1 (G67V)	Single nucleotide variant (non-coding transcript variant +1 more)	Exudative vitreoretinopathy 2, X-linked	GLikely pathogenic
Select item 10695	NM_000266.4(NDP):c.362G>T (p.Arg121Leu)	NDP, NDP-AS1 (R121L)	Single nucleotide variant (non-coding transcript variant +1 more)	Exudative vitreoretinopathy 2, X-linked	GPathogenic
Select item 10694	NM_000266.4(NDP):c.328T>G (p.Cys110Gly)	NDP, NDP-AS1 (C110G)	Single nucleotide variant (non-coding transcript variant +1 more)	Exudative vitreoretinopathy 2, X-linked	GPathogenic
Select item 10688	NM_000266.4(NDP):c.361C>T (p.Arg121Trp)	NDP, NDP-AS1 (R121W)	Single nucleotide variant (non-coding transcript variant +1 more)	Atrophia bulborum hereditaria +1 more	GPathogenic/Likely pathogenic
Select item 10684	NM_000266.4(NDP):c.370C>T (p.Leu124Phe)	NDP, NDP-AS1 (L124F)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 10680	NM_000266.4(NDP):c.224C>G (p.Ser75Cys)	NDP, NDP-AS1 (S75C)	Single nucleotide variant (non-coding transcript variant +1 more)	Exudative vitreoretinopathy 2, X-linked	GLikely pathogenic

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