ClinVar for MedGen (Select 75615) - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1805158	NM_000266.4(NDP):c.307C>G (p.Leu103Val)	NDP, NDP-AS1 (L103V)	Single nucleotide variant (non-coding transcript variant +1 more)	Atrophia bulborum hereditaria	GLikely pathogenic
Select item 1805040	NM_000266.4(NDP):c.223_224dup (p.Glu76fs)	NDP, NDP-AS1 (E76fs)	Duplication (non-coding transcript variant +1 more)	Atrophia bulborum hereditaria	GPathogenic
Select item 1705321	NM_000266.4(NDP):c.131_132del (p.Tyr44fs)	NDP, NDP-AS1 (Y44fs)	Deletion (frameshift variant)	Atrophia bulborum hereditaria	GLikely pathogenic
Select item 1687207	NM_000266.4(NDP):c.3G>A (p.Met1Ile)	NDP, NDP-AS1 (M1I)	Single nucleotide variant (missense variant +1 more)	Atrophia bulborum hereditaria +1 more	GConflicting classifications of pathogenicity
Select item 1339550	NM_000266.4(NDP):c.242T>C (p.Phe81Ser)	NDP, NDP-AS1 (F81S)	Single nucleotide variant (non-coding transcript variant +1 more)	Atrophia bulborum hereditaria	GLikely pathogenic
Select item 1213861	NM_000266.4(NDP):c.58G>T (p.Gly20Ter)	NDP-AS1, NDP (G20*)	Single nucleotide variant (nonsense)	Atrophia bulborum hereditaria	GPathogenic
Select item 1172720	NM_000266.4(NDP):c.355A>C (p.Thr119Pro)	NDP, NDP-AS1 (T119P)	Single nucleotide variant (non-coding transcript variant +1 more)	Atrophia bulborum hereditaria	GLikely pathogenic
Select item 812352	NM_000266.4(NDP):c.269G>A (p.Arg90His)	NDP, NDP-AS1 (R90H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 373948	NM_000266.4(NDP):c.268C>T (p.Arg90Cys)	NDP, NDP-AS1 (R90C)	Single nucleotide variant (non-coding transcript variant +1 more)	Atrophia bulborum hereditaria	GLikely pathogenic
Select item 285413	NM_000266.4(NDP):c.155T>A (p.Leu52Ter)	NDP, NDP-AS1 (L52*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 236067	NM_012338.4(TSPAN12):c.542G>T (p.Cys181Phe)	TSPAN12 (C181F)	Single nucleotide variant (missense variant)	Atrophia bulborum hereditaria +3 more	GPathogenic
Select item 224624	NM_012193.4(FZD4):c.313A>G (p.Met105Val)	FZD4, PRSS23 (M105V)	Single nucleotide variant (non-coding transcript variant +1 more)	Exudative vitreoretinopathy 1 +5 more	GPathogenic
Select item 167326	NM_000266.4(NDP):c.220C>T (p.Arg74Cys)	NDP, NDP-AS1 (R74C)	Single nucleotide variant (non-coding transcript variant +1 more)	Atrophia bulborum hereditaria +1 more	GPathogenic
Select item 92699	NM_000266.4(NDP):c.109C>T (p.Arg37Ter)	NDP, NDP-AS1 (R37*)	Single nucleotide variant (nonsense)	Atrophia bulborum hereditaria +1 more	GPathogenic/Likely pathogenic
Select item 10699	NM_000266.4(NDP):c.302C>T (p.Ser101Phe)	NDP, NDP-AS1 (S101F)	Single nucleotide variant (non-coding transcript variant +1 more)	Atrophia bulborum hereditaria	GPathogenic
Select item 10698	NM_000266.4(NDP):c.218C>A (p.Ser73Ter)	NDP, NDP-AS1 (S73*)	Single nucleotide variant (non-coding transcript variant +1 more)	Atrophia bulborum hereditaria	GPathogenic
Select item 10697	NM_000266.4(NDP):c.134T>A (p.Val45Glu)	NDP, NDP-AS1 (V45E)	Single nucleotide variant (missense variant)	Atrophia bulborum hereditaria	GPathogenic
Select item 10696	NM_000266.4(NDP):c.288C>G (p.Cys96Trp)	NDP, NDP-AS1 (C96W)	Single nucleotide variant (non-coding transcript variant +1 more)	Atrophia bulborum hereditaria	GPathogenic
Select item 10693	NM_000266.4(NDP):c.313G>A (p.Ala105Thr)	NDP, NDP-AS1 (A105T)	Single nucleotide variant (non-coding transcript variant +1 more)	Atrophia bulborum hereditaria	GPathogenic
Select item 10692	NM_000266.4(NDP):c.103del (p.Asp35fs)	NDP, NDP-AS1 (D35fs)	Deletion (frameshift variant)	Atrophia bulborum hereditaria	GPathogenic
Select item 10690	NM_000266.4(NDP):c.181C>T (p.Leu61Phe)	NDP, NDP-AS1 (L61F)	Single nucleotide variant (non-coding transcript variant +1 more)	Atrophia bulborum hereditaria	GPathogenic
Select item 10689	NM_000266.4(NDP):c.38T>G (p.Leu13Arg)	NDP, NDP-AS1 (L13R)	Single nucleotide variant (missense variant)	Atrophia bulborum hereditaria	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)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 10687	NM_000266.4(NDP):c.1A>G (p.Met1Val)	NDP, NDP-AS1 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 10686	NM_000266.4(NDP):c.384C>A (p.Cys128Ter)	NDP, NDP-AS1 (C128*)	Single nucleotide variant (non-coding transcript variant +1 more)	Atrophia bulborum hereditaria +1 more	GPathogenic
Select item 10685	NM_000266.4(NDP):c.206G>C (p.Cys69Ser)	NDP, NDP-AS1 (C69S)	Single nucleotide variant (non-coding transcript variant +1 more)	Atrophia bulborum hereditaria	GPathogenic
Select item 10683	NM_000266.4(NDP):c.287G>A (p.Cys96Tyr)	NDP, NDP-AS1 (C96Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Atrophia bulborum hereditaria	GPathogenic
Select item 10682	NM_000266.4(NDP):c.131A>G (p.Tyr44Cys)	NDP, NDP-AS1 (Y44C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 10681	NM_000266.4(NDP):c.179T>A (p.Val60Glu)	NDP, NDP-AS1 (V60E)	Single nucleotide variant (non-coding transcript variant +1 more)	Atrophia bulborum hereditaria	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
Select item 10679	NM_000266.4(NDP):c.269G>C (p.Arg90Pro)	NDP, NDP-AS1 (R90P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance

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Items: 31