C1845359[trait identifier] AND "Mendelics"[submitter] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1685559	NM_000052.7(ATP7A):c.437del (p.Leu146fs)	ATP7A (L146fs)	Deletion (frameshift variant)	X-linked distal spinal muscular atrophy type 3	GPathogenic
Select item 1685560	NM_000052.7(ATP7A):c.1668_1680del (p.Ile556fs)	ATP7A (I556fs)	Deletion (frameshift variant)	X-linked distal spinal muscular atrophy type 3	GPathogenic
Select item 589159	NM_000052.7(ATP7A):c.1856T>C (p.Ile619Thr)	ATP7A (I619T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 1685249	NM_000052.7(ATP7A):c.2180G>A (p.Gly727Glu)	ATP7A (G727E)	Single nucleotide variant (missense variant +1 more)	X-linked distal spinal muscular atrophy type 3	GLikely pathogenic
Select item 92382	NM_000052.7(ATP7A):c.2299G>C (p.Val767Leu)	ATP7A (V767L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +5 more	GBenign
Select item 210436	NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly)	ATP7A (E968G +1 more)	Single nucleotide variant (missense variant)	ATP7A-related condition +7 more	GConflicting classifications of pathogenicity
Select item 1685250	NM_000052.7(ATP7A):c.2916+3A>T	ATP7A	Single nucleotide variant (intron variant)	X-linked distal spinal muscular atrophy type 3	GLikely pathogenic
Select item 1653886	NM_000052.7(ATP7A):c.3132T>C (p.Asp1044=)	ATP7A	Single nucleotide variant (synonymous variant +1 more)	Menkes kinky-hair syndrome +3 more	GLikely benign
Select item 1686487	NM_000052.7(ATP7A):c.3278C>T (p.Thr1093Ile)	ATP7A (T1015I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 1685561	NM_000052.7(ATP7A):c.3659-1G>A	ATP7A	Single nucleotide variant (splice acceptor variant)	X-linked distal spinal muscular atrophy type 3	GPathogenic
Select item 1685562	NM_000052.7(ATP7A):c.3802-1G>A	ATP7A	Single nucleotide variant (splice acceptor variant)	X-linked distal spinal muscular atrophy type 3	GPathogenic
Select item 804038	NM_000052.7(ATP7A):c.3871G>A (p.Glu1291Lys)	ATP7A (E1213K +1 more)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, X-linked +2 more	GUncertain significance