ClinVar for MedGen (Select 82793) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3244475	NC_000023.10:g.(?_76972588)_(77302067_?)del	ATP7A, ATRX +3 more	Deletion	Alpha thalassemia-X-linked intellectual disability syndrome +3 more	GPathogenic
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 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)	Cutis laxa, X-linked +2 more	GUncertain significance
Select item 2953374	NM_000052.7(ATP7A):c.156T>C (p.Tyr52=)	ATP7A	Single nucleotide variant (synonymous variant)	Cutis laxa, X-linked +2 more	GLikely benign
Select item 2953339	NM_000052.7(ATP7A):c.774A>G (p.Thr258=)	ATP7A	Single nucleotide variant (synonymous variant)	Cutis laxa, X-linked +2 more	GLikely benign
Select item 2953293	NM_000052.7(ATP7A):c.1147A>G (p.Ile383Val)	ATP7A (I383V)	Single nucleotide variant (missense variant)	Cutis laxa, X-linked +2 more	GLikely benign
Select item 2953266	NM_000052.7(ATP7A):c.1654G>A (p.Gly552Arg)	ATP7A (G552R)	Single nucleotide variant (missense variant)	Cutis laxa, X-linked +2 more	GUncertain significance
Select item 2953209	NM_000052.7(ATP7A):c.611-20T>C	ATP7A	Single nucleotide variant (intron variant)	Cutis laxa, X-linked +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)	Cutis laxa, X-linked +2 more	GUncertain significance
Select item 2953005	NM_000052.7(ATP7A):c.339G>A (p.Val113=)	ATP7A	Single nucleotide variant (synonymous variant)	Cutis laxa, X-linked +2 more	GLikely benign
Select item 2952948	NM_000052.7(ATP7A):c.717A>C (p.Lys239Asn)	ATP7A (K239N)	Single nucleotide variant (missense variant)	Cutis laxa, X-linked +2 more	GUncertain significance
Select item 2952644	NM_000052.7(ATP7A):c.69T>G (p.Val23=)	ATP7A	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, X-linked +2 more	GLikely benign
Select item 2952570	NM_000052.7(ATP7A):c.3714G>A (p.Leu1238=)	ATP7A	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, X-linked +2 more	GLikely benign
Select item 2952294	NM_000052.7(ATP7A):c.1947-7A>C	ATP7A	Single nucleotide variant (intron variant)	Cutis laxa, X-linked +2 more	GLikely benign
Select item 2952252	NM_000052.7(ATP7A):c.2406+20C>T	ATP7A	Single nucleotide variant (intron variant)	Cutis laxa, X-linked +2 more	GBenign
Select item 2952147	NM_000052.7(ATP7A):c.182C>T (p.Thr61Ile)	ATP7A (T61I)	Single nucleotide variant (missense variant)	Cutis laxa, X-linked +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)	Cutis laxa, X-linked +2 more	GBenign
Select item 2952097	NM_000052.7(ATP7A):c.2101C>T (p.Leu701=)	ATP7A	Single nucleotide variant (synonymous variant)	Cutis laxa, X-linked +2 more	GLikely benign
Select item 2952019	NM_000052.7(ATP7A):c.1008G>A (p.Glu336=)	ATP7A	Single nucleotide variant (synonymous variant)	Cutis laxa, X-linked +2 more	GLikely benign
Select item 2951869	NM_000052.7(ATP7A):c.4015C>T (p.Leu1339=)	ATP7A	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, X-linked +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)	Cutis laxa, X-linked +2 more	GUncertain significance
Select item 2951795	NM_000052.7(ATP7A):c.1946+12G>C	ATP7A	Single nucleotide variant (intron variant)	Cutis laxa, X-linked +2 more	GLikely benign
Select item 2951728	NM_000052.7(ATP7A):c.761G>A (p.Arg254His)	ATP7A (R254H)	Single nucleotide variant (missense variant)	Cutis laxa, X-linked +2 more	GBenign
Select item 2951709	NM_000052.7(ATP7A):c.4263del (p.Ala1422fs)	ATP7A (A1422fs +1 more)	Deletion (frameshift variant +1 more)	Cutis laxa, X-linked +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
Select item 2950991	NM_000052.7(ATP7A):c.3666G>C (p.Leu1222=)	ATP7A	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, X-linked +2 more	GLikely benign
Select item 2950910	NM_000052.7(ATP7A):c.1645C>G (p.Leu549Val)	ATP7A (L549V)	Single nucleotide variant (missense variant)	Cutis laxa, X-linked +2 more	GUncertain significance
Select item 2950844	NM_000052.7(ATP7A):c.2627-19A>T	ATP7A	Single nucleotide variant (intron variant)	Cutis laxa, X-linked +2 more	GLikely benign
Select item 2950821	NM_000052.7(ATP7A):c.2574G>A (p.Val858=)	ATP7A	Single nucleotide variant (synonymous variant)	Cutis laxa, X-linked +2 more	GLikely benign
Select item 2950812	NM_000052.7(ATP7A):c.2166T>A (p.Pro722=)	ATP7A	Single nucleotide variant (synonymous variant)	Cutis laxa, X-linked +2 more	GLikely benign
Select item 2950774	NM_000052.7(ATP7A):c.1707+17G>A	ATP7A	Single nucleotide variant (intron variant)	Cutis laxa, X-linked +2 more	GLikely benign
Select item 2950404	NM_000052.7(ATP7A):c.357C>T (p.Tyr119=)	ATP7A	Single nucleotide variant (synonymous variant)	Cutis laxa, X-linked +2 more	GLikely benign
Select item 2950351	NM_000052.7(ATP7A):c.2781+14C>T	ATP7A	Single nucleotide variant (intron variant)	Cutis laxa, X-linked +2 more	GLikely benign
Select item 2950283	NM_000052.7(ATP7A):c.3624A>G (p.Arg1208=)	ATP7A	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, X-linked +2 more	GLikely benign
Select item 2950218	NM_000052.7(ATP7A):c.4232G>A (p.Arg1411Lys)	ATP7A (R1333K +1 more)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, X-linked +2 more	GUncertain significance
Select item 2950173	NM_000052.7(ATP7A):c.3129T>C (p.Phe1043=)	ATP7A	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, X-linked +2 more	GLikely benign
Select item 2950025	NM_000052.7(ATP7A):c.4188A>G (p.Ser1396=)	ATP7A	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, X-linked +2 more	GLikely benign
Select item 2949954	NM_000052.7(ATP7A):c.4226+6T>G	ATP7A	Single nucleotide variant (intron variant)	Cutis laxa, X-linked +2 more	GUncertain significance
Select item 2949941	NM_000052.7(ATP7A):c.1870-7T>G	ATP7A	Single nucleotide variant (intron variant)	Cutis laxa, X-linked +2 more	GLikely benign
Select item 2949791	NM_000052.7(ATP7A):c.836C>A (p.Ala279Asp)	ATP7A (A279D)	Single nucleotide variant (missense variant)	Cutis laxa, X-linked +2 more	GUncertain significance
Select item 2949548	NM_000052.7(ATP7A):c.1947-15T>C	ATP7A	Single nucleotide variant (intron variant)	Menkes kinky-hair syndrome +2 more	GLikely benign
Select item 2949494	NM_000052.7(ATP7A):c.4219C>G (p.Leu1407Val)	ATP7A (L1329V +1 more)	Single nucleotide variant (missense variant +1 more)	Menkes kinky-hair syndrome +2 more	GUncertain significance
Select item 2949479	NM_000052.7(ATP7A):c.1368G>T (p.Gln456His)	ATP7A (Q456H)	Single nucleotide variant (missense variant)	Menkes kinky-hair syndrome +2 more	GBenign
Select item 2949470	NM_000052.7(ATP7A):c.3295-11_3295-10del	ATP7A	Deletion (intron variant)	Menkes kinky-hair syndrome +2 more	GLikely benign
Select item 2949236	NM_000052.7(ATP7A):c.1681G>A (p.Glu561Lys)	ATP7A (E561K)	Single nucleotide variant (missense variant)	Menkes kinky-hair syndrome +2 more	GUncertain significance
Select item 2949197	NM_000052.7(ATP7A):c.3434C>A (p.Ala1145Glu)	ATP7A (A1145E +1 more)	Single nucleotide variant (missense variant +1 more)	Menkes kinky-hair syndrome +2 more	GUncertain significance
Select item 2948840	NM_000052.7(ATP7A):c.756A>G (p.Val252=)	ATP7A	Single nucleotide variant (synonymous variant)	Menkes kinky-hair syndrome +2 more	GLikely benign
Select item 2948661	NM_000052.7(ATP7A):c.117T>A (p.Ile39=)	ATP7A	Single nucleotide variant (synonymous variant +1 more)	Menkes kinky-hair syndrome +2 more	GLikely benign
Select item 2948641	NM_000052.7(ATP7A):c.2406+16G>A	ATP7A	Single nucleotide variant (intron variant)	Menkes kinky-hair syndrome +2 more	GLikely benign
Select item 2948605	NM_000052.7(ATP7A):c.2662A>C (p.Thr888Pro)	ATP7A (T810P +1 more)	Single nucleotide variant (missense variant)	Menkes kinky-hair syndrome +2 more	GUncertain significance
Select item 2948596	NM_000052.7(ATP7A):c.4006-4T>C	ATP7A	Single nucleotide variant (intron variant)	Menkes kinky-hair syndrome +2 more	GLikely benign
Select item 2948510	NM_000052.7(ATP7A):c.800A>G (p.Gln267Arg)	ATP7A (Q267R)	Single nucleotide variant (missense variant)	Menkes kinky-hair syndrome +2 more	GUncertain significance
Select item 2948363	NM_000052.7(ATP7A):c.1719G>A (p.Met573Ile)	ATP7A (M573I)	Single nucleotide variant (missense variant)	Menkes kinky-hair syndrome +2 more	GLikely benign
Select item 2948362	NM_000052.7(ATP7A):c.2456A>G (p.Glu819Gly)	ATP7A (E819G +1 more)	Single nucleotide variant (missense variant)	Menkes kinky-hair syndrome +2 more	GUncertain significance
Select item 2948345	NM_000052.7(ATP7A):c.3592G>T (p.Asp1198Tyr)	ATP7A (D1198Y +1 more)	Single nucleotide variant (missense variant +1 more)	Menkes kinky-hair syndrome +2 more	GLikely benign
Select item 2947940	NM_000052.7(ATP7A):c.2499-11C>A	ATP7A	Single nucleotide variant (intron variant)	Menkes kinky-hair syndrome +2 more	GLikely benign
Select item 2947905	NM_000052.7(ATP7A):c.1802C>G (p.Thr601Ser)	ATP7A (T601S)	Single nucleotide variant (missense variant)	Menkes kinky-hair syndrome +2 more	GUncertain significance
Select item 2947823	NM_000052.7(ATP7A):c.3302A>G (p.Asp1101Gly)	ATP7A (D1101G +1 more)	Single nucleotide variant (missense variant +1 more)	Menkes kinky-hair syndrome +2 more	GUncertain significance
Select item 2947755	NM_000052.7(ATP7A):c.868T>C (p.Ser290Pro)	ATP7A (S290P)	Single nucleotide variant (missense variant)	Menkes kinky-hair syndrome +2 more	GUncertain significance
Select item 2947553	NM_000052.7(ATP7A):c.3659-9C>T	ATP7A	Single nucleotide variant (intron variant)	Menkes kinky-hair syndrome +2 more	GLikely benign
Select item 2947449	NM_000052.7(ATP7A):c.2230G>A (p.Ala744Thr)	ATP7A (A744T)	Single nucleotide variant (missense variant +1 more)	Menkes kinky-hair syndrome +2 more	GUncertain significance
Select item 2947405	NM_000052.7(ATP7A):c.4055T>A (p.Val1352Asp)	ATP7A (V1274D +1 more)	Single nucleotide variant (missense variant +1 more)	Menkes kinky-hair syndrome +2 more	GUncertain significance
Select item 2947350	NM_000052.7(ATP7A):c.237C>T (p.Asp79=)	ATP7A	Single nucleotide variant (synonymous variant)	Menkes kinky-hair syndrome +2 more	GLikely benign
Select item 2947212	NM_000052.7(ATP7A):c.4124-17C>A	ATP7A	Single nucleotide variant (intron variant)	Menkes kinky-hair syndrome +2 more	GLikely benign
Select item 2947125	NM_000052.7(ATP7A):c.2371A>G (p.Ile791Val)	ATP7A (I791V)	Single nucleotide variant (missense variant +1 more)	Menkes kinky-hair syndrome +2 more	GLikely benign
Select item 2947086	NM_000052.7(ATP7A):c.2173-15A>T	ATP7A	Single nucleotide variant (intron variant)	Menkes kinky-hair syndrome +2 more	GLikely benign
Select item 2947069	NM_000052.7(ATP7A):c.3582C>T (p.Val1194=)	ATP7A	Single nucleotide variant (synonymous variant +1 more)	Menkes kinky-hair syndrome +2 more	GLikely benign
Select item 2947055	NM_000052.7(ATP7A):c.2499-20T>C	ATP7A	Single nucleotide variant (intron variant)	Menkes kinky-hair syndrome +2 more	GLikely benign
Select item 2946949	NM_000052.7(ATP7A):c.561C>T (p.Ser187=)	ATP7A	Single nucleotide variant (synonymous variant)	Menkes kinky-hair syndrome +2 more	GBenign
Select item 2946885	NM_000052.7(ATP7A):c.798A>G (p.Ser266=)	ATP7A	Single nucleotide variant (synonymous variant)	Menkes kinky-hair syndrome +2 more	GLikely benign

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