ClinVar for Gene (Select 538) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3380750	NM_000052.7(ATP7A):c.4402C>A (p.Leu1468Met)	ATP7A (L1390M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3377924	NM_000052.7(ATP7A):c.376G>A (p.Ala126Thr)	ATP7A (A126T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3377683	NM_000052.7(ATP7A):c.1471_1473delinsATGTAA (p.Tyr491delinsMetTer)	ATP7A	Indel (nonsense)	Menkes kinky-hair syndrome	GUncertain significance
Select item 3376491	NM_000052.7(ATP7A):c.4040T>C (p.Leu1347Ser)	ATP7A (L1269S +1 more)	Single nucleotide variant (missense variant +1 more)	Menkes kinky-hair syndrome	GLikely pathogenic
Select item 3372253	NM_000052.7(ATP7A):c.4325A>C (p.Asp1442Ala)	ATP7A (D1364A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3369985	NM_000052.7(ATP7A):c.184C>A (p.Leu62Ile)	ATP7A (L62I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369569	NM_000052.7(ATP7A):c.3373A>G (p.Asn1125Asp)	ATP7A (N1047D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3368206	NM_000052.7(ATP7A):c.4426del (p.Ser1476fs)	ATP7A (S1398fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3366158	NM_000052.7(ATP7A):c.1864A>T (p.Ile622Phe)	ATP7A (I622F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366112	NM_000052.7(ATP7A):c.1852A>T (p.Ile618Phe)	ATP7A (I618F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365478	NM_000052.7(ATP7A):c.2123G>C (p.Gly708Ala)	ATP7A (G708A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364122	NM_000052.7(ATP7A):c.4449C>G (p.Asp1483Glu)	ATP7A (D1405E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3362329	NM_000052.7(ATP7A):c.2289T>G (p.Ile763Met)	ATP7A (I763M)	Single nucleotide variant (missense variant +1 more)	Menkes kinky-hair syndrome	GUncertain significance
Select item 3361811	NM_000052.7(ATP7A):c.1663G>A (p.Val555Met)	ATP7A (V555M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360505	NM_000052.7(ATP7A):c.153T>G (p.Ile51Met)	ATP7A (I51M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360093	NM_000052.7(ATP7A):c.2329C>T (p.Pro777Ser)	ATP7A (P777S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3340905	NM_000052.7(ATP7A):c.563C>T (p.Thr188Ile)	ATP7A (T188I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340089	NM_000052.7(ATP7A):c.2388G>A (p.Trp796Ter)	ATP7A (W796*)	Single nucleotide variant (nonsense +1 more)	Menkes kinky-hair syndrome	GPathogenic
Select item 3337995	NM_000052.7(ATP7A):c.3547G>A (p.Gly1183Ser)	ATP7A (G1105S +1 more)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, X-linked	GUncertain significance
Select item 3329669	NM_000052.7(ATP7A):c.536G>A (p.Gly179Glu)	ATP7A (G179E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329663	NM_000052.7(ATP7A):c.3448A>C (p.Ile1150Leu)	ATP7A (I1072L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3305927	NM_001029891.3(PGAM4):c.106G>A (p.Glu36Lys)	ATP7A, PGAM4 (E36K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305925	NM_001029891.3(PGAM4):c.538C>T (p.Arg180Cys)	ATP7A, PGAM4 (R180C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3254711	NM_000052.7(ATP7A):c.1016C>A (p.Ser339Ter)	ATP7A (S339*)	Single nucleotide variant (nonsense)	Menkes kinky-hair syndrome	GPathogenic
Select item 3252135	NM_000052.7(ATP7A):c.3563T>C (p.Met1188Thr)	ATP7A (M1110T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3244817	NC_000023.10:g.(?_77266653)_(77302067_?)dup	ATP7A	Duplication	Menkes kinky-hair syndrome +2 more	GUncertain significance
Select item 3244806	NC_000023.10:g.(?_77300947)_(77381327_?)dup	ATP7A, PGK1	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 3244761	NC_000023.10:g.(?_76829695)_(77381327_?)dup	ATP7A, ATRX +4 more	Duplication	Menkes kinky-hair syndrome +2 more	GUncertain significance
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 3244508	NC_000023.10:g.(?_76890065)_(77302067_?)dup	ATP7A, ATRX +3 more	Duplication	Alpha thalassemia-X-linked intellectual disability syndrome	GUncertain significance
Select item 3244497	NC_000023.10:g.(?_76907584)_(77381327_?)dup	ATP7A, ATRX +4 more	Duplication	Alpha thalassemia-X-linked intellectual disability syndrome	GUncertain significance
Select item 3244475	NC_000023.10:g.(?_76972588)_(77302067_?)del	ATP7A, ATRX +3 more	Deletion	Menkes kinky-hair syndrome +3 more	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	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 3239553	NM_000052.7(ATP7A):c.1142T>A (p.Ile381Lys)	ATP7A (I381K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3236394	NM_000052.7(ATP7A):c.4223A>T (p.Lys1408Ile)	ATP7A (K1330I +1 more)	Single nucleotide variant (missense variant +1 more)	Menkes kinky-hair syndrome	GUncertain significance
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 3131944	NM_000052.7(ATP7A):c.2645C>T (p.Ala882Val)	ATP7A (A804V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3075944	NM_000052.7(ATP7A):c.1337-1745T>C	ATP7A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3062549	GRCh37/hg19 Xq21.1(chrX:77145900-77174083)	ATP7A, COX7B +1 more	Copy number gain	not specified	GUncertain significance
Select item 3062498	GRCh37/hg19 Xq21.1(chrX:77224405-77392096)	ATP7A, PGAM4 +2 more	Copy number gain	not specified	GUncertain significance
Select item 3062482	GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79122848)	ABCB7, AMER1 +92 more	Copy number gain	not specified	GPathogenic
Select item 3062468	GRCh37/hg19 Xq13.1-22.1(chrX:68040342-100863081)	ABCB7, APOOL +121 more	Copy number gain	not specified	GPathogenic
Select item 3041538	NM_000052.7(ATP7A):c.-10G>C	ATP7A	Single nucleotide variant (5 prime UTR variant +1 more)	ATP7A-related disorder	GLikely benign
Select item 3035581	NM_000052.7(ATP7A):c.2376A>G (p.Ala792=)	ATP7A	Single nucleotide variant (synonymous variant +1 more)	ATP7A-related disorder	GLikely benign
Select item 3030947	NC_000023.11:g.77910214G>C	ATP7A	Single nucleotide variant	not provided	GLikely benign
Select item 3026076	NM_000052.7(ATP7A):c.1083A>C (p.Ser361=)	ATP7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CT47A5, NXF3 +488 more	Copy number gain	not provided	GPathogenic
Select item 2954385	NM_000052.7(ATP7A):c.2874A>C (p.Val958=)	ATP7A	Single nucleotide variant (synonymous variant)	Cutis laxa, X-linked +2 more	GLikely benign
Select item 2954248	NM_000052.7(ATP7A):c.2193C>T (p.Phe731=)	ATP7A	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, X-linked +2 more	GLikely benign
Select item 2954009	NM_000052.7(ATP7A):c.4006-7T>A	ATP7A	Single nucleotide variant (intron variant)	Cutis laxa, X-linked +2 more	GLikely benign
Select item 2953927	NM_000052.7(ATP7A):c.3345A>G (p.Pro1115=)	ATP7A	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, X-linked +2 more	GLikely benign
Select item 2953816	NM_000052.7(ATP7A):c.1905T>A (p.Asp635Glu)	ATP7A (D635E)	Single nucleotide variant (missense variant)	Cutis laxa, X-linked +2 more	GUncertain significance
Select item 2953815	NM_000052.7(ATP7A):c.3537A>G (p.Lys1179=)	ATP7A	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, X-linked +2 more	GLikely benign
Select item 2953782	NM_000052.7(ATP7A):c.2491C>T (p.Leu831Phe)	ATP7A (L753F +1 more)	Single nucleotide variant (missense variant)	Cutis laxa, X-linked +2 more	GUncertain significance
Select item 2953768	NM_000052.7(ATP7A):c.1946+15G>C	ATP7A	Single nucleotide variant (intron variant)	Cutis laxa, X-linked +2 more	GLikely benign
Select item 2953721	NM_000052.7(ATP7A):c.2559A>C (p.Gly853=)	ATP7A	Single nucleotide variant (synonymous variant)	Cutis laxa, X-linked +2 more	GLikely benign
Select item 2953699	NM_000052.7(ATP7A):c.1200A>G (p.Ser400=)	ATP7A	Single nucleotide variant (synonymous variant)	Cutis laxa, X-linked +2 more	GLikely benign
Select item 2953665	NM_000052.7(ATP7A):c.1924G>A (p.Asp642Asn)	ATP7A (D642N)	Single nucleotide variant (missense variant)	Cutis laxa, X-linked +2 more	GUncertain significance
Select item 2953512	NM_000052.7(ATP7A):c.164A>T (p.Lys55Ile)	ATP7A (K55I)	Single nucleotide variant (missense variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GUncertain significance
Select item 2953374	NM_000052.7(ATP7A):c.156T>C (p.Tyr52=)	ATP7A	Single nucleotide variant (synonymous variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely benign
Select item 2953339	NM_000052.7(ATP7A):c.774A>G (p.Thr258=)	ATP7A	Single nucleotide variant (synonymous variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely benign
Select item 2953293	NM_000052.7(ATP7A):c.1147A>G (p.Ile383Val)	ATP7A (I383V)	Single nucleotide variant (missense variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely benign
Select item 2953266	NM_000052.7(ATP7A):c.1654G>A (p.Gly552Arg)	ATP7A (G552R)	Single nucleotide variant (missense variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GUncertain significance
Select item 2953209	NM_000052.7(ATP7A):c.611-20T>C	ATP7A	Single nucleotide variant (intron variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely benign
Select item 2953058	NM_000052.7(ATP7A):c.3271G>A (p.Ala1091Thr)	ATP7A (A1013T +1 more)	Single nucleotide variant (missense variant +1 more)	X-linked distal spinal muscular atrophy type 3 +2 more	GUncertain significance
Select item 2953005	NM_000052.7(ATP7A):c.339G>A (p.Val113=)	ATP7A	Single nucleotide variant (synonymous variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely benign
Select item 2952948	NM_000052.7(ATP7A):c.717A>C (p.Lys239Asn)	ATP7A (K239N)	Single nucleotide variant (missense variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GUncertain significance
Select item 2952644	NM_000052.7(ATP7A):c.69T>G (p.Val23=)	ATP7A	Single nucleotide variant (synonymous variant +1 more)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely benign
Select item 2952570	NM_000052.7(ATP7A):c.3714G>A (p.Leu1238=)	ATP7A	Single nucleotide variant (synonymous variant +1 more)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely benign
Select item 2952294	NM_000052.7(ATP7A):c.1947-7A>C	ATP7A	Single nucleotide variant (intron variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely benign
Select item 2952252	NM_000052.7(ATP7A):c.2406+20C>T	ATP7A	Single nucleotide variant (intron variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GBenign
Select item 2952147	NM_000052.7(ATP7A):c.182C>T (p.Thr61Ile)	ATP7A (T61I)	Single nucleotide variant (missense variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GUncertain significance
Select item 2952121	NM_000052.7(ATP7A):c.3423T>A (p.Asn1141Lys)	ATP7A (N1141K +1 more)	Single nucleotide variant (missense variant +1 more)	X-linked distal spinal muscular atrophy type 3 +3 more	GConflicting classifications of pathogenicity
Select item 2952097	NM_000052.7(ATP7A):c.2101C>T (p.Leu701=)	ATP7A	Single nucleotide variant (synonymous variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely benign
Select item 2952019	NM_000052.7(ATP7A):c.1008G>A (p.Glu336=)	ATP7A	Single nucleotide variant (synonymous variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely benign
Select item 2951869	NM_000052.7(ATP7A):c.4015C>T (p.Leu1339=)	ATP7A	Single nucleotide variant (synonymous variant +1 more)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely benign
Select item 2951855	NM_000052.7(ATP7A):c.2842G>T (p.Val948Phe)	ATP7A (V870F +1 more)	Single nucleotide variant (missense variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GUncertain significance
Select item 2951795	NM_000052.7(ATP7A):c.1946+12G>C	ATP7A	Single nucleotide variant (intron variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely benign
Select item 2951728	NM_000052.7(ATP7A):c.761G>A (p.Arg254His)	ATP7A (R254H)	Single nucleotide variant (missense variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GBenign
Select item 2951709	NM_000052.7(ATP7A):c.4263del (p.Ala1422fs)	ATP7A (A1422fs +1 more)	Deletion (frameshift variant +1 more)	X-linked distal spinal muscular atrophy type 3 +2 more	GUncertain significance
Select item 2951620	NM_000052.7(ATP7A):c.3801+17T>C	ATP7A	Single nucleotide variant (intron variant)	Cutis laxa, X-linked +2 more	GLikely benign
Select item 2951599	NM_000052.7(ATP7A):c.4006-10C>G	ATP7A	Single nucleotide variant (intron variant)	Cutis laxa, X-linked +2 more	GLikely benign
Select item 2951558	NM_000052.7(ATP7A):c.120+14T>C	ATP7A	Single nucleotide variant (intron variant)	Cutis laxa, X-linked +2 more	GLikely benign
Select item 2951540	NM_000052.7(ATP7A):c.2454A>G (p.Thr818=)	ATP7A	Single nucleotide variant (synonymous variant)	Cutis laxa, X-linked +2 more	GLikely benign
Select item 2951371	NM_000052.7(ATP7A):c.1422G>A (p.Gly474=)	ATP7A	Single nucleotide variant (synonymous variant)	Cutis laxa, X-linked +2 more	GLikely benign
Select item 2951360	NM_000052.7(ATP7A):c.3658+17G>T	ATP7A	Single nucleotide variant (intron variant)	Cutis laxa, X-linked +2 more	GLikely benign
Select item 2951214	NM_000052.7(ATP7A):c.860A>G (p.His287Arg)	ATP7A (H287R)	Single nucleotide variant (missense variant)	Cutis laxa, X-linked +2 more	GLikely benign
Select item 2951139	NM_000052.7(ATP7A):c.1190G>C (p.Gly397Ala)	ATP7A (G397A)	Single nucleotide variant (missense variant)	Cutis laxa, X-linked +2 more	GUncertain significance
Select item 2951033	NM_000052.7(ATP7A):c.4167A>T (p.Gly1389=)	ATP7A	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, X-linked +2 more	GLikely benign

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