"Fulgent Genetics, Fulgent Genetics"[submitter] AND "ATP7A"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 648905	NM_000052.7(ATP7A):c.368G>A (p.Arg123Lys)	ATP7A (R123K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 210477	NM_000052.7(ATP7A):c.565A>G (p.Ile189Val)	ATP7A (I189V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 649439	NM_000052.7(ATP7A):c.1558C>T (p.Leu520Phe)	ATP7A (L520F)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1168703	NM_000052.7(ATP7A):c.2111A>G (p.Gln704Arg)	ATP7A (Q704R)	Single nucleotide variant (missense variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GBenign/Likely benign
Select item 234270	NM_000052.7(ATP7A):c.2530C>T (p.Arg844Cys)	ATP7A (R844C +1 more)	Single nucleotide variant (missense variant)	Cutis laxa, X-linked +5 more	GBenign/Likely benign
Select item 644057	NM_000052.7(ATP7A):c.3070A>G (p.Ile1024Val)	ATP7A (I1024V +1 more)	Single nucleotide variant (missense variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GUncertain significance
Select item 1528330	NM_000052.7(ATP7A):c.3522T>C (p.Asn1174=)	ATP7A	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, X-linked +2 more	GLikely benign
Select item 465122	NM_000052.7(ATP7A):c.4201G>C (p.Val1401Leu)	ATP7A (V1401L +1 more)	Single nucleotide variant (missense variant +1 more)	Menkes kinky-hair syndrome +5 more	GBenign/Likely benign
Select item 639627	NM_000052.7(ATP7A):c.4356G>C (p.Leu1452Phe)	ATP7A (L1452F +1 more)	Single nucleotide variant (missense variant +1 more)	Menkes kinky-hair syndrome +3 more	GConflicting classifications of pathogenicity
Select item 166709	NM_000052.7(ATP7A):c.4390A>G (p.Ile1464Val)	ATP7A (I1464V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +6 more	GBenign