C0022716[trait identifier] AND "Victorian Clinical Genetics Services, - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1805292	NM_000052.7(ATP7A):c.2048A>G (p.His683Arg)	ATP7A (H683R)	Single nucleotide variant (missense variant)	Menkes kinky-hair syndrome +2 more	GUncertain significance
Select item 1806151	NM_000052.7(ATP7A):c.2280C>G (p.Tyr760Ter)	ATP7A (Y760*)	Single nucleotide variant (nonsense +1 more)	Menkes kinky-hair syndrome	GPathogenic
Select item 1617175	NM_000052.7(ATP7A):c.3511+8A>C	ATP7A	Single nucleotide variant (intron variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GConflicting classifications of pathogenicity
Select item 234816	NM_000052.7(ATP7A):c.3521A>T (p.Asn1174Ile)	ATP7A (N1174I +1 more)	Single nucleotide variant (missense variant +1 more)	Menkes kinky-hair syndrome +3 more	GUncertain significance
Select item 1805735	NM_000052.7(ATP7A):c.4168T>C (p.Ser1390Pro)	ATP7A (S1312P +1 more)	Single nucleotide variant (missense variant +1 more)	Menkes kinky-hair syndrome	GLikely pathogenic
Select item 870392	GRCh37/hg19 Xq21.1(chrX:77238734-77312616)	ATP7A	Copy number loss	Menkes kinky-hair syndrome	GPathogenic

ClinVar