C0022716[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1028028	NM_000052.7(ATP7A):c.1047T>A (p.Ser349Arg)	ATP7A (S349R)	Single nucleotide variant (missense variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GUncertain significance
Select item 1028029	NM_000052.7(ATP7A):c.1406A>G (p.Glu469Gly)	ATP7A (E469G)	Single nucleotide variant (missense variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GUncertain significance
Select item 2571528	NM_000052.7(ATP7A):c.1910C>G (p.Ser637Ter)	ATP7A (S637*)	Single nucleotide variant (nonsense)	Menkes kinky-hair syndrome	GPathogenic
Select item 210411	NM_000052.7(ATP7A):c.1996G>C (p.Gly666Arg)	ATP7A (G666R)	Single nucleotide variant (missense variant)	Menkes kinky-hair syndrome +1 more	GPathogenic
Select item 2169680	NM_000052.7(ATP7A):c.2242G>A (p.Val748Ile)	ATP7A (V748I)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, X-linked +2 more	GConflicting classifications of pathogenicity
Select item 3238783	NM_000052.7(ATP7A):c.2774_2775del (p.Thr925fs)	ATP7A (T847fs +1 more)	Deletion (frameshift variant)	Cutis laxa, X-linked +2 more	GPathogenic
Select item 210438	NM_000052.7(ATP7A):c.2956C>T (p.Arg986Ter)	ATP7A (R986* +1 more)	Single nucleotide variant (nonsense)	Menkes kinky-hair syndrome +3 more	GPathogenic
Select item 1029451	NM_000052.7(ATP7A):c.3103G>A (p.Ala1035Thr)	ATP7A (A957T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2441644	NM_000052.7(ATP7A):c.3284A>G (p.Tyr1095Cys)	ATP7A (Y1017C +1 more)	Single nucleotide variant (missense variant +1 more)	Menkes kinky-hair syndrome +2 more	GUncertain significance
Select item 2441850	NM_000052.7(ATP7A):c.3947T>G (p.Ile1316Ser)	ATP7A (I1238S +1 more)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, X-linked +2 more	GUncertain significance
Select item 1029453	NM_000052.7(ATP7A):c.4213C>T (p.Leu1405Phe)	ATP7A (L1327F +1 more)	Single nucleotide variant (missense variant +1 more)	Menkes kinky-hair syndrome	GUncertain significance
Select item 3240806	NM_000052.7(ATP7A):c.4245C>G (p.Tyr1415Ter)	ATP7A (Y1337* +1 more)	Single nucleotide variant (nonsense +1 more)	Menkes kinky-hair syndrome	GLikely pathogenic
Select item 3240805	NM_000052.7(ATP7A):c.4253dup (p.Tyr1418Ter)	ATP7A (Y1340* +1 more)	Duplication (nonsense +1 more)	Menkes kinky-hair syndrome	GLikely pathogenic
Select item 625793	GRCh37/hg19 Xq21.1(chrX:77244108-77244998)	ATP7A	Copy number loss	Menkes kinky-hair syndrome	GPathogenic