"GeneDx"[submitter] AND "NDP-AS1"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59265	GRCh38/hg38 Xp11.4-11.23(chrX:41434043-47880733)x1	ARAF, CASK +152 more	Copy number loss	See cases	GPathogenic
Select item 59269	GRCh38/hg38 Xp11.4-11.3(chrX:41823849-44240337)x1	CASK, EFHC2 +19 more	Copy number loss	See cases	GPathogenic
Select item 146001	GRCh38/hg38 Xp11.3(chrX:43640608-44123496)x2	MAOA, MAOB +2 more	Copy number gain	See cases	GPathogenic
Select item 588627	NM_000266.4(NDP):c.*14G>A	NDP-AS1, NDP	Single nucleotide variant (non-coding transcript variant +1 more)	History of neurodevelopmental disorder +1 more	GConflicting classifications of pathogenicity
Select item 167324	NM_000266.4(NDP):c.*10C>G	NDP, NDP-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GBenign
Select item 2430453	NM_000266.4(NDP):c.388G>T (p.Glu130Ter)	NDP, NDP-AS1 (E130*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 798241	NM_000266.4(NDP):c.387G>A (p.Glu129=)	NDP, NDP-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 377374	NM_000266.4(NDP):c.385G>A (p.Glu129Lys)	NDP, NDP-AS1 (E129K)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 10686	NM_000266.4(NDP):c.384C>A (p.Cys128Ter)	NDP-AS1, NDP (C128*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	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 1218455	NM_000266.4(NDP):c.338dup (p.Met114fs)	NDP, NDP-AS1 (M114fs)	Duplication (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 1186733	NM_000266.4(NDP):c.338del (p.Gly113fs)	NDP-AS1, NDP (G113fs)	Deletion (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 1219131	NM_000266.4(NDP):c.329G>T (p.Cys110Phe)	NDP, NDP-AS1 (C110F)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 1189410	NM_000266.4(NDP):c.310_318del (p.Lys104_Leu106del)	NDP, NDP-AS1	Deletion (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 812352	NM_000266.4(NDP):c.269G>A (p.Arg90His)	NDP, NDP-AS1 (R90H)	Single nucleotide variant (non-coding transcript variant +1 more)	Hearing impairment +2 more	GConflicting classifications of pathogenicity
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
Select item 378238	NM_000266.4(NDP):c.267C>G (p.Phe89Leu)	NDP, NDP-AS1 (F89L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 419051	NM_000266.4(NDP):c.196dup (p.Glu66fs)	NDP, NDP-AS1 (E66fs)	Duplication (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 1267592	NM_000266.4(NDP):c.175-143dup	NDP, NDP-AS1	Duplication (intron variant)	not provided	GBenign
Select item 1187206	NM_000266.4(NDP):c.175-193C>A	NDP, NDP-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1262335	NM_000266.4(NDP):c.175-252del	NDP, NDP-AS1	Deletion (intron variant)	not provided	GBenign
Select item 1182208	NM_000266.4(NDP):c.174+42A>G	NDP, NDP-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3338823	NM_000266.4(NDP):c.174+1G>C	NDP, NDP-AS1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1303053	NM_000266.4(NDP):c.174G>T (p.Lys58Asn)	NDP, NDP-AS1 (K58N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1166604	NM_000266.4(NDP):c.165T>C (p.Cys55=)	NDP, NDP-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2663356	NM_000266.4(NDP):c.164G>C (p.Cys55Ser)	NDP, NDP-AS1 (C55S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 10691	NM_000266.4(NDP):c.125A>G (p.His42Arg)	NDP-AS1, NDP (H42R)	Single nucleotide variant (missense variant)	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)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 588804	NM_000266.4(NDP):c.101C>T (p.Ser34Leu)	NDP, NDP-AS1 (S34L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 289799	NM_000266.4(NDP):c.69C>G (p.Asp23Glu)	NDP, NDP-AS1 (D23E)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1234820	NM_000266.4(NDP):c.-111G>T	NDP, NDP-AS1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2573710	NM_000266.4(NDP):c.-207-5T>C	NDP, NDP-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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Items: 33