Related gene-specific medical variations for Gene (Select 538) - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244817	NC_000023.10:g.(?_77266653)_(77302067_?)dup	ATP7A	Duplication	Menkes kinky-hair syndrome +2 more	GUncertain significance
Select item 3244794	NC_000023.10:g.(?_77227139)_(77284961_?)dup	ATP7A	Duplication	Menkes kinky-hair syndrome +2 more	GUncertain significance
Select item 3244783	NC_000023.10:g.(?_77227139)_(77275915_?)dup	ATP7A	Duplication	Menkes kinky-hair syndrome +2 more	GUncertain significance
Select item 3244772	NC_000023.10:g.(?_77289083)_(77301089_?)dup	ATP7A	Duplication	Menkes kinky-hair syndrome +2 more	GLikely pathogenic
Select item 3244750	NC_000023.10:g.(?_77264579)_(77268629_?)del	ATP7A	Deletion	Menkes kinky-hair syndrome +2 more	GPathogenic
Select item 3244739	NC_000023.10:g.(?_77227139)_(77289339_?)del	ATP7A	Deletion	Menkes kinky-hair syndrome +2 more	GPathogenic
Select item 3244728	NC_000023.10:g.(?_77227139)_(77271398_?)del	ATP7A	Deletion	Menkes kinky-hair syndrome +2 more	GPathogenic
Select item 3244717	NC_000023.10:g.(?_77268356)_(77271398_?)del	ATP7A	Deletion	Menkes kinky-hair syndrome +2 more	GPathogenic
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 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 3211631	NM_001029891.3(PGAM4):c.41G>A (p.Ser14Asn)	ATP7A, PGAM4 (S14N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211630	NM_001029891.3(PGAM4):c.364C>T (p.Pro122Ser)	ATP7A, PGAM4 (P122S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2688651	NM_000052.7(ATP7A):c.2263A>G (p.Thr755Ala)	ATP7A (T755A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2660963	NM_000052.7(ATP7A):c.-21-2105G>A	ATP7A, PGAM4 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2576025	NM_000052.7(ATP7A):c.2627-501C>T	ATP7A	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 2575981	NM_000052.7(ATP7A):c.2019del (p.Met674fs)	ATP7A (M674fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2552648	NM_001029891.3(PGAM4):c.713C>T (p.Thr238Met)	ATP7A, PGAM4 (T238M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517925	NM_001029891.3(PGAM4):c.412A>G (p.Lys138Glu)	ATP7A, PGAM4 (K138E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478999	NM_001029891.3(PGAM4):c.256C>A (p.Arg86Ser)	ATP7A, PGAM4 (R86S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478375	NM_001029891.3(PGAM4):c.169A>G (p.Thr57Ala)	ATP7A, PGAM4 (T57A)	Single nucleotide variant (missense variant +1 more)	not specified	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 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 2439394	NM_000052.7(ATP7A):c.1352T>C (p.Leu451Ser)	ATP7A (L451S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439393	NM_000052.7(ATP7A):c.3112-3C>T	ATP7A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2439391	NM_000052.7(ATP7A):c.641T>C (p.Val214Ala)	ATP7A (V214A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2381792	NM_001029891.3(PGAM4):c.28C>T (p.Arg10Trp)	ATP7A, PGAM4 (R10W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328655	NM_001029891.3(PGAM4):c.229A>T (p.Met77Leu)	ATP7A, PGAM4 (M77L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299927	NM_001029891.3(PGAM4):c.550G>A (p.Ala184Thr)	ATP7A, PGAM4 (A184T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297605	NM_001029891.3(PGAM4):c.286A>G (p.Thr96Ala)	ATP7A, PGAM4 (T96A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1701703	NM_000052.7(ATP7A):c.4124-538A>G	ATP7A	Single nucleotide variant (intron variant)	Menkes kinky-hair syndrome	GUncertain significance
Select item 1687717	NM_000052.7(ATP7A):c.1544-1G>C	ATP7A	Single nucleotide variant (splice acceptor variant)	X-linked distal spinal muscular atrophy type 3	GLikely pathogenic
Select item 1338829	GRCh38/hg38 Xq21.1(chrX:77914739-77914775)	ATP7A	Copy number loss	Diaphragmatic hernia	GUncertain significance
Select item 1330244	NM_000052.7(ATP7A):c.4261C>T (p.Pro1421Ser)	ATP7A (P1343S +1 more)	Single nucleotide variant (missense variant +1 more)	Menkes kinky-hair syndrome	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 975653	NM_000052.7(ATP7A):c.3884G>A (p.Arg1295Gln)	ATP7A (R1217Q +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GLikely benign
Select item 931531	NM_000052.7(ATP7A):c.1555A>T (p.Ile519Leu)	ATP7A (I519L)	Single nucleotide variant (missense variant)	Cutis laxa, X-linked	GUncertain significance
Select item 930933	NM_000052.7(ATP7A):c.4469dup (p.Asp1491fs)	ATP7A (D1491fs +1 more)	Duplication (frameshift variant +1 more)	Cutis laxa, X-linked	GUncertain significance
Select item 929465	NM_000052.7(ATP7A):c.2576A>G (p.Asp859Gly)	ATP7A (D781G +1 more)	Single nucleotide variant (missense variant)	Cutis laxa, X-linked +1 more	GPathogenic
Select item 870392	GRCh37/hg19 Xq21.1(chrX:77238734-77312616)	ATP7A	Copy number loss	Menkes kinky-hair syndrome	GPathogenic
Select item 804036	NM_000052.7(ATP7A):c.-21-2239C>T	ATP7A, PGAM4 (R86H)	Single nucleotide variant (missense variant +1 more)	Menkes kinky-hair syndrome	GBenign
Select item 691959	NM_000052.7(ATP7A):c.2063G>A (p.Ser688Asn)	ATP7A (S688N)	Single nucleotide variant (missense variant)	Menkes kinky-hair syndrome	GBenign
Select item 625793	GRCh37/hg19 Xq21.1(chrX:77244108-77244998)	ATP7A	Copy number loss	Menkes kinky-hair syndrome	GPathogenic
Select item 624432	NM_000052.7(ATP7A):c.3950C>A (p.Ala1317Asp)	ATP7A (A1317D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 618540	NM_000052.7(ATP7A):c.1435C>T (p.Gln479Ter)	ATP7A (Q479*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 591906	NM_000052.7(ATP7A):c.4094A>T (p.Tyr1365Phe)	ATP7A (Y1365F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 549669	NM_000052.7(ATP7A):c.2972C>A (p.Ala991Asp)	ATP7A (A991D +1 more)	Single nucleotide variant (missense variant)	X-linked distal spinal muscular atrophy type 3	GLikely pathogenic
Select item 254758	NM_000052.7(ATP7A):c.2916+2402del	ATP7A	Deletion (intron variant)	not specified	GLikely benign
Select item 235208	NM_001029891.3(PGAM4):c.649G>A (p.Val217Ile)	PGAM4, ATP7A (V217I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 150780	GRCh38/hg38 Xq21.1(chrX:77995123-78039221)x0	ATP7A	Copy number loss	See cases	GPathogenic
Select item 11791	NG_013224.2:g.(66066_82545)_(84263_92781)del	ATP7A	Deletion	Menkes kinky-hair syndrome	GPathogenic
Select item 11783	ATP7A, 8-BP DEL, NT1552	ATP7A	Deletion	Cutis laxa, X-linked	GPathogenic

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Links from Gene

Items: 52