"3billion"[submitter] AND "ATP7A"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 387402	NM_000052.7(ATP7A):c.278C>G (p.Thr93Arg)	ATP7A (T93R)	Single nucleotide variant (missense variant)	Cutis laxa, X-linked +3 more	GConflicting classifications of pathogenicity
Select item 2439391	NM_000052.7(ATP7A):c.641T>C (p.Val214Ala)	ATP7A (V214A)	Single nucleotide variant (missense variant)	Menkes kinky-hair syndrome +3 more	GConflicting classifications of pathogenicity
Select item 2045277	NM_000052.7(ATP7A):c.924A>G (p.Ile308Met)	ATP7A (I308M)	Single nucleotide variant (missense variant)	Menkes kinky-hair syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1347005	NM_000052.7(ATP7A):c.1126A>G (p.Thr376Ala)	ATP7A (T376A)	Single nucleotide variant (missense variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GConflicting classifications of pathogenicity
Select item 1023459	NM_000052.7(ATP7A):c.1127C>A (p.Thr376Lys)	ATP7A (T376K)	Single nucleotide variant (missense variant)	Cutis laxa, X-linked +2 more	GConflicting classifications of pathogenicity
Select item 1056968	NM_000052.7(ATP7A):c.1286A>G (p.Glu429Gly)	ATP7A (E429G)	Single nucleotide variant (missense variant)	Cutis laxa, X-linked +2 more	GConflicting classifications of pathogenicity
Select item 589116	NM_000052.7(ATP7A):c.1835T>G (p.Ile612Ser)	ATP7A (I612S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 210420	NM_000052.7(ATP7A):c.2183G>A (p.Gly728Asp)	ATP7A (G728D)	Single nucleotide variant (missense variant +1 more)	Menkes kinky-hair syndrome	GConflicting classifications of pathogenicity
Select item 1320240	NM_000052.7(ATP7A):c.2557G>T (p.Gly853Ter)	ATP7A (G775* +1 more)	Single nucleotide variant (nonsense)	Cutis laxa, X-linked	GLikely pathogenic
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