"GeneDx"[submitter] AND "NYX"[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 368265	NM_001378477.3(NYX):c.-57+60A>G	NYX	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 368266	NM_001378477.3(NYX):c.-57+95T>C	NYX	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital stationary night blindness 1A +1 more	GBenign
Select item 99841	NM_001378477.3(NYX):c.70_93del (p.Arg24_Ala31del)	NYX	Deletion (inframe_deletion)	Congenital stationary night blindness 1A +2 more	GPathogenic
Select item 1039062	NM_001378477.3(NYX):c.152T>C (p.Val51Ala)	NYX (V51A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3377892	NM_001378477.3(NYX):c.193G>T (p.Asp65Tyr)	NYX (D65Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 914662	NM_001378477.3(NYX):c.207G>A (p.Leu69=)	NYX	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1A +1 more	GBenign/Likely benign
Select item 1809982	NM_001378477.3(NYX):c.439G>A (p.Glu147Lys)	NYX (E147K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1425125	NM_001378477.3(NYX):c.512G>A (p.Gly171Asp)	NYX (G171D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2737208	NM_001378477.3(NYX):c.605_613dup (p.Arg204_Ser205insCysLeuArg)	NYX	Duplication (inframe_insertion)	not provided	GConflicting classifications of pathogenicity
Select item 3369338	NM_001378477.3(NYX):c.782T>A (p.Leu261Gln)	NYX (L261Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699564	NM_001378477.3(NYX):c.823C>A (p.Leu275Ile)	NYX (L275I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 99844	NM_001378477.3(NYX):c.920A>G (p.Asn307Ser)	NYX (N312S +1 more)	Single nucleotide variant (missense variant)	NYX-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2136225	NM_001378477.3(NYX):c.1076C>T (p.Ser359Phe)	NYX (S359F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 450213	NM_001378477.3(NYX):c.1078C>T (p.Pro360Ser)	NYX (P365S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2739537	NM_001378477.3(NYX):c.1133A>C (p.Asp378Ala)	NYX (D378A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 489017	NM_001378477.3(NYX):c.1339G>T (p.Gly447Ter)	NYX (G452* +1 more)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity
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
Select item 3361839	NM_001378477.3(NYX):c.109C>T (p.Arg37Cys)	NYX (R37C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 33