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

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Items: 54

	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 1311771	NM_000266.4(NDP):c.193_194insTTTTC	NDP	Insertion (3 prime UTR variant)	not provided	GUncertain significance
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
Select item 1225592	NM_000266.4(NDP):c.-208+206C>G	NDP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 596321	NM_000266.3(NDP):c.-421_-408CTCTCTCTCTCTCC[1]	NDP	Microsatellite	not provided +1 more	GBenign/Likely benign
Select item 1258286	NC_000023.11:g.43973680T>A	NDP	Single nucleotide variant	not provided	GBenign
Select item 1274416	NC_000023.11:g.43973757_43973764dup	NDP	Duplication	not provided	GBenign
Select item 253704	GRCh37/hg19 Xp11.3(chrX:43752453-43834126)x2	NDP	Copy number gain	See cases	GUncertain significance
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253615	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3	ACE2, ACOT9 +316 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253571	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1	ACE2, ACOT9 +316 more	Copy number loss	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic

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Items: 54