ATP7A[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3030947	NC_000023.11:g.77910214G>C	ATP7A	Single nucleotide variant	not provided	GLikely benign
Select item 210385	NM_000052.7(ATP7A):c.-54T>C	ATP7A	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 506790	NM_000052.7(ATP7A):c.-22+13T>C	ATP7A	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 392602	NM_000052.7(ATP7A):c.-22+13T>G	ATP7A	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 678099	NM_000052.7(ATP7A):c.-22+117T>C	ATP7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1338829	GRCh38/hg38 Xq21.1(chrX:77914739-77914775)	ATP7A	Copy number loss	Diaphragmatic hernia	GUncertain significance
Select item 3041538	NM_000052.7(ATP7A):c.-10G>C	ATP7A	Single nucleotide variant (5 prime UTR variant +1 more)	ATP7A-related disorder	GLikely benign
Select item 1604836	NM_000052.7(ATP7A):c.6T>C (p.Asp2=)	ATP7A	Single nucleotide variant (synonymous variant +1 more)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely benign
Select item 2155505	NM_000052.7(ATP7A):c.8C>G (p.Pro3Arg)	ATP7A (P3R)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, X-linked +2 more	GLikely benign
Select item 2923400	NM_000052.7(ATP7A):c.14T>C (p.Met5Thr)	ATP7A (M5T)	Single nucleotide variant (missense variant +1 more)	Menkes kinky-hair syndrome +2 more	GUncertain significance
Select item 590209	NM_000052.7(ATP7A):c.15G>A (p.Met5Ile)	ATP7A (M5I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 852398	NM_000052.7(ATP7A):c.17G>A (p.Gly6Asp)	ATP7A (G6D)	Single nucleotide variant (missense variant +1 more)	X-linked distal spinal muscular atrophy type 3 +2 more	GUncertain significance
Select item 2933584	NM_000052.7(ATP7A):c.19G>A (p.Val7Met)	ATP7A (V7M)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, X-linked +2 more	GLikely benign
Select item 1122517	NM_000052.7(ATP7A):c.21G>C (p.Val7=)	ATP7A	Single nucleotide variant (synonymous variant +1 more)	Menkes kinky-hair syndrome +2 more	GLikely benign
Select item 588061	NM_000052.7(ATP7A):c.31dup (p.Thr11fs)	ATP7A (T11fs)	Duplication (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 1144917	NM_000052.7(ATP7A):c.39T>C (p.Ser13=)	ATP7A	Single nucleotide variant (synonymous variant +1 more)	Menkes kinky-hair syndrome +2 more	GLikely benign
Select item 2934626	NM_000052.7(ATP7A):c.40G>T (p.Val14Phe)	ATP7A (V14F)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, X-linked +2 more	GUncertain significance
Select item 1720553	NM_000052.7(ATP7A):c.45G>C (p.Glu15Asp)	ATP7A (E15D)	Single nucleotide variant (missense variant +1 more)	Menkes kinky-hair syndrome +2 more	GUncertain significance
Select item 2943760	NM_000052.7(ATP7A):c.46G>T (p.Gly16Cys)	ATP7A (G16C)	Single nucleotide variant (missense variant +1 more)	Menkes kinky-hair syndrome +2 more	GUncertain significance
Select item 2673246	NM_000052.7(ATP7A):c.47G>T (p.Gly16Val)	ATP7A (G16V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1650293	NM_000052.7(ATP7A):c.48T>G (p.Gly16=)	ATP7A	Single nucleotide variant (synonymous variant +1 more)	Menkes kinky-hair syndrome +2 more	GLikely benign
Select item 2936929	NM_000052.7(ATP7A):c.52A>G (p.Thr18Ala)	ATP7A (T18A)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, X-linked +2 more	GLikely benign
Select item 1998014	NM_000052.7(ATP7A):c.52A>C (p.Thr18Pro)	ATP7A (T18P)	Single nucleotide variant (missense variant +1 more)	Menkes kinky-hair syndrome +2 more	GLikely benign
Select item 2202272	NM_000052.7(ATP7A):c.56G>A (p.Cys19Tyr)	ATP7A (C19Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1082959	NM_000052.7(ATP7A):c.57C>T (p.Cys19=)	ATP7A	Single nucleotide variant (synonymous variant +1 more)	Menkes kinky-hair syndrome +2 more	GLikely benign
Select item 2056840	NM_000052.7(ATP7A):c.61T>C (p.Ser21Pro)	ATP7A (S21P)	Single nucleotide variant (missense variant +1 more)	X-linked distal spinal muscular atrophy type 3 +2 more	GUncertain significance
Select item 938980	NM_000052.7(ATP7A):c.65G>A (p.Cys22Tyr)	ATP7A (C22Y)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, X-linked +2 more	GUncertain significance
Select item 1716425	NM_000052.7(ATP7A):c.67G>A (p.Val23Ile)	ATP7A (V23I)	Single nucleotide variant (missense variant +1 more)	Menkes kinky-hair syndrome +2 more	GUncertain significance
Select item 2952644	NM_000052.7(ATP7A):c.69T>G (p.Val23=)	ATP7A	Single nucleotide variant (synonymous variant +1 more)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely benign
Select item 1084333	NM_000052.7(ATP7A):c.81G>A (p.Glu27=)	ATP7A	Single nucleotide variant (synonymous variant +1 more)	Menkes kinky-hair syndrome +2 more	GLikely benign
Select item 1556260	NM_000052.7(ATP7A):c.83A>T (p.Gln28Leu)	ATP7A (Q28L)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, X-linked +3 more	GConflicting classifications of pathogenicity
Select item 765430	NM_000052.7(ATP7A):c.84G>A (p.Gln28=)	ATP7A	Single nucleotide variant (synonymous variant +1 more)	Menkes kinky-hair syndrome +2 more	GLikely benign
Select item 1437302	NM_000052.7(ATP7A):c.90T>G (p.Ile30Met)	ATP7A (I30M)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, X-linked +2 more	GUncertain significance
Select item 576488	NM_000052.7(ATP7A):c.92G>A (p.Gly31Glu)	ATP7A (G31E)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 947605	NM_000052.7(ATP7A):c.94A>C (p.Lys32Gln)	ATP7A (K32Q)	Single nucleotide variant (missense variant +1 more)	Menkes kinky-hair syndrome +2 more	GUncertain significance
Select item 1195945	NM_000052.7(ATP7A):c.97G>C (p.Val33Leu)	ATP7A (V33L)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, X-linked +2 more	GUncertain significance
Select item 2945028	NM_000052.7(ATP7A):c.105T>C (p.Gly35=)	ATP7A	Single nucleotide variant (synonymous variant +1 more)	Menkes kinky-hair syndrome +2 more	GLikely benign
Select item 1657466	NM_000052.7(ATP7A):c.108G>A (p.Val36=)	ATP7A	Single nucleotide variant (synonymous variant +1 more)	Menkes kinky-hair syndrome +2 more	GLikely benign
Select item 1791768	NM_000052.7(ATP7A):c.109C>T (p.His37Tyr)	ATP7A (H37Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 648639	NM_000052.7(ATP7A):c.112C>T (p.His38Tyr)	ATP7A (H38Y)	Single nucleotide variant (missense variant +1 more)	X-linked distal spinal muscular atrophy type 3 +2 more	GUncertain significance
Select item 2948661	NM_000052.7(ATP7A):c.117T>A (p.Ile39=)	ATP7A	Single nucleotide variant (synonymous variant +1 more)	Menkes kinky-hair syndrome +2 more	GLikely benign
Select item 1041243	NM_000052.7(ATP7A):c.119A>C (p.Lys40Thr)	ATP7A (K40T)	Single nucleotide variant (missense variant +1 more)	Menkes kinky-hair syndrome +2 more	GUncertain significance
Select item 2092498	NM_000052.7(ATP7A):c.120G>A (p.Lys40=)	ATP7A	Single nucleotide variant (synonymous variant +1 more)	Menkes kinky-hair syndrome +2 more	GUncertain significance
Select item 597655	NM_000052.7(ATP7A):c.120+5G>A	ATP7A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1699165	NM_000052.7(ATP7A):c.120+7T>C	ATP7A	Single nucleotide variant (intron variant)	Menkes kinky-hair syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1996804	NM_000052.7(ATP7A):c.120+8A>T	ATP7A	Single nucleotide variant (intron variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely benign
Select item 2951558	NM_000052.7(ATP7A):c.120+14T>C	ATP7A	Single nucleotide variant (intron variant)	Cutis laxa, X-linked +2 more	GLikely benign
Select item 2945978	NM_000052.7(ATP7A):c.120+15G>A	ATP7A	Single nucleotide variant (intron variant)	Menkes kinky-hair syndrome +2 more	GLikely benign
Select item 2930354	NM_000052.7(ATP7A):c.120+20C>T	ATP7A	Single nucleotide variant (intron variant)	Cutis laxa, X-linked +2 more	GLikely benign
Select item 1286173	NM_000052.7(ATP7A):c.120+43G>A	ATP7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678551	NM_000052.7(ATP7A):c.120+194A>G	ATP7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1279816	NM_000052.7(ATP7A):c.120+328G>C	ATP7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2929411	NM_000052.7(ATP7A):c.121-14T>G	ATP7A	Single nucleotide variant (intron variant)	Cutis laxa, X-linked +2 more	GUncertain significance
Select item 2922128	NM_000052.7(ATP7A):c.121-12T>G	ATP7A	Single nucleotide variant (intron variant)	Menkes kinky-hair syndrome +2 more	GLikely benign
Select item 1616999	NM_000052.7(ATP7A):c.121-12T>C	ATP7A	Single nucleotide variant (intron variant)	Menkes kinky-hair syndrome +2 more	GLikely benign
Select item 451772	NM_000052.7(ATP7A):c.121-2del	ATP7A	Deletion (splice acceptor variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 2163714	NM_000052.7(ATP7A):c.125C>T (p.Ser42Leu)	ATP7A (S42L)	Single nucleotide variant (missense variant)	Menkes kinky-hair syndrome +2 more	GBenign
Select item 1083274	NM_000052.7(ATP7A):c.126A>G (p.Ser42=)	ATP7A	Single nucleotide variant (synonymous variant)	Menkes kinky-hair syndrome +2 more	GLikely benign
Select item 2940431	NM_000052.7(ATP7A):c.127C>T (p.Leu43=)	ATP7A	Single nucleotide variant (synonymous variant)	Cutis laxa, X-linked +2 more	GLikely benign
Select item 1726167	NM_000052.7(ATP7A):c.140dup (p.Asn47fs)	ATP7A (N47fs)	Duplication (frameshift variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1698350	NM_000052.7(ATP7A):c.136A>G (p.Lys46Glu)	ATP7A (K46E)	Single nucleotide variant (missense variant)	Menkes kinky-hair syndrome +3 more	GUncertain significance
Select item 452221	NM_000052.7(ATP7A):c.142G>A (p.Ala48Thr)	ATP7A (A48T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2943229	NM_000052.7(ATP7A):c.143C>G (p.Ala48Gly)	ATP7A (A48G)	Single nucleotide variant (missense variant)	Menkes kinky-hair syndrome +2 more	GUncertain significance
Select item 2932615	NM_000052.7(ATP7A):c.147T>C (p.Thr49=)	ATP7A	Single nucleotide variant (synonymous variant)	Cutis laxa, X-linked +2 more	GLikely benign
Select item 1129218	NM_000052.7(ATP7A):c.150T>A (p.Ile50=)	ATP7A	Single nucleotide variant (synonymous variant)	Menkes kinky-hair syndrome +2 more	GLikely benign
Select item 2953374	NM_000052.7(ATP7A):c.156T>C (p.Tyr52=)	ATP7A	Single nucleotide variant (synonymous variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely benign
Select item 1090773	NM_000052.7(ATP7A):c.159C>T (p.Asp53=)	ATP7A	Single nucleotide variant (synonymous variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely benign
Select item 2953512	NM_000052.7(ATP7A):c.164A>T (p.Lys55Ile)	ATP7A (K55I)	Single nucleotide variant (missense variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GUncertain significance
Select item 2931929	NM_000052.7(ATP7A):c.165A>C (p.Lys55Asn)	ATP7A (K55N)	Single nucleotide variant (missense variant)	Cutis laxa, X-linked +2 more	GUncertain significance
Select item 1560705	NM_000052.7(ATP7A):c.166C>T (p.Leu56=)	ATP7A	Single nucleotide variant (synonymous variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely benign
Select item 1777890	NM_000052.7(ATP7A):c.167T>G (p.Leu56Arg)	ATP7A (L56R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1157642	NM_000052.7(ATP7A):c.168A>G (p.Leu56=)	ATP7A	Single nucleotide variant (synonymous variant)	Menkes kinky-hair syndrome +2 more	GLikely benign
Select item 2005118	NM_000052.7(ATP7A):c.169C>T (p.Gln57Ter)	ATP7A (Q57*)	Single nucleotide variant (nonsense)	Menkes kinky-hair syndrome +2 more	GPathogenic
Select item 465106	NM_000052.7(ATP7A):c.177A>G (p.Pro59=)	ATP7A	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +4 more	GBenign/Likely benign
Select item 1999103	NM_000052.7(ATP7A):c.180G>A (p.Lys60=)	ATP7A	Single nucleotide variant (synonymous variant)	Cutis laxa, X-linked +2 more	GLikely benign
Select item 2952147	NM_000052.7(ATP7A):c.182C>T (p.Thr61Ile)	ATP7A (T61I)	Single nucleotide variant (missense variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GUncertain significance
Select item 3369985	NM_000052.7(ATP7A):c.184C>A (p.Leu62Ile)	ATP7A (L62I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1144597	NM_000052.7(ATP7A):c.186A>G (p.Leu62=)	ATP7A	Single nucleotide variant (synonymous variant)	Menkes kinky-hair syndrome +2 more	GLikely benign
Select item 2941837	NM_000052.7(ATP7A):c.189G>A (p.Gln63=)	ATP7A	Single nucleotide variant (synonymous variant)	Menkes kinky-hair syndrome +2 more	GLikely benign
Select item 663285	NM_000052.7(ATP7A):c.202G>A (p.Asp68Asn)	ATP7A (D68N)	Single nucleotide variant (missense variant)	Menkes kinky-hair syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1597164	NM_000052.7(ATP7A):c.204C>T (p.Asp68=)	ATP7A	Single nucleotide variant (synonymous variant)	Menkes kinky-hair syndrome +2 more	GLikely benign
Select item 640366	NM_000052.7(ATP7A):c.207G>A (p.Met69Ile)	ATP7A (M69I)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +4 more	GConflicting classifications of pathogenicity
Select item 2443618	NM_000052.7(ATP7A):c.209G>C (p.Gly70Ala)	ATP7A (G70A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 796047	NM_000052.7(ATP7A):c.209G>A (p.Gly70Asp)	ATP7A (G70D)	Single nucleotide variant (missense variant)	Cutis laxa, X-linked +2 more	GBenign
Select item 2933649	NM_000052.7(ATP7A):c.210C>T (p.Gly70=)	ATP7A	Single nucleotide variant (synonymous variant)	Cutis laxa, X-linked +2 more	GLikely benign
Select item 1021364	NM_000052.7(ATP7A):c.214G>T (p.Asp72Tyr)	ATP7A (D72Y)	Single nucleotide variant (missense variant)	Menkes kinky-hair syndrome +2 more	GUncertain significance
Select item 533687	NM_000052.7(ATP7A):c.219T>C (p.Ala73=)	ATP7A	Single nucleotide variant (synonymous variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely benign
Select item 2927065	NM_000052.7(ATP7A):c.220G>C (p.Val74Leu)	ATP7A (V74L)	Single nucleotide variant (missense variant)	Cutis laxa, X-linked +2 more	GBenign
Select item 2089507	NM_000052.7(ATP7A):c.222T>C (p.Val74=)	ATP7A	Single nucleotide variant (synonymous variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely benign
Select item 2163913	NM_000052.7(ATP7A):c.235G>A (p.Asp79Asn)	ATP7A (D79N)	Single nucleotide variant (missense variant)	Menkes kinky-hair syndrome +2 more	GBenign
Select item 1967001	NM_000052.7(ATP7A):c.236A>G (p.Asp79Gly)	ATP7A (D79G)	Single nucleotide variant (missense variant)	Menkes kinky-hair syndrome +2 more	GUncertain significance
Select item 2947350	NM_000052.7(ATP7A):c.237C>T (p.Asp79=)	ATP7A	Single nucleotide variant (synonymous variant)	Menkes kinky-hair syndrome +2 more	GLikely benign
Select item 1029450	NM_000052.7(ATP7A):c.238C>T (p.Pro80Ser)	ATP7A (P80S)	Single nucleotide variant (missense variant)	Menkes kinky-hair syndrome	GUncertain significance
Select item 590217	NM_000052.7(ATP7A):c.239C>T (p.Pro80Leu)	ATP7A (P80L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 2939339	NM_000052.7(ATP7A):c.251T>C (p.Leu84Ser)	ATP7A (L84S)	Single nucleotide variant (missense variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GUncertain significance
Select item 1725455	NM_000052.7(ATP7A):c.256_262del (p.Asp86fs)	ATP7A (D86fs)	Deletion (frameshift variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1098209	NM_000052.7(ATP7A):c.255T>C (p.Thr85=)	ATP7A	Single nucleotide variant (synonymous variant)	Cutis laxa, X-linked +2 more	GLikely benign
Select item 1491683	NM_000052.7(ATP7A):c.257A>G (p.Asp86Gly)	ATP7A (D86G)	Single nucleotide variant (missense variant)	Cutis laxa, X-linked +2 more	GUncertain significance
Select item 1405087	NM_000052.7(ATP7A):c.260C>T (p.Thr87Ile)	ATP7A (T87I)	Single nucleotide variant (missense variant)	Menkes kinky-hair syndrome +2 more	GLikely benign
Select item 1148600	NM_000052.7(ATP7A):c.261C>G (p.Thr87=)	ATP7A	Single nucleotide variant (synonymous variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely benign

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