"Myriad Genetics, Inc."[submitter] AND "ATP7A"[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1726167	NM_000052.7(ATP7A):c.140dup (p.Asn47fs)	ATP7A (N47fs)	Duplication (frameshift variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1725455	NM_000052.7(ATP7A):c.256_262del (p.Asp86fs)	ATP7A (D86fs)	Deletion (frameshift variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1724857	NM_000052.7(ATP7A):c.293T>A (p.Leu98Ter)	ATP7A (L98*)	Single nucleotide variant (nonsense)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1725727	NM_000052.7(ATP7A):c.319_320insACTGTCTCTTA (p.Leu107fs)	ATP7A (L107fs)	Insertion (frameshift variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1724000	NM_000052.7(ATP7A):c.338_339del (p.Val113fs)	ATP7A (V113fs)	Microsatellite (frameshift variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1724669	NM_000052.7(ATP7A):c.348del (p.Ile118fs)	ATP7A (I118fs)	Deletion (frameshift variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1726719	NM_000052.7(ATP7A):c.349A>T (p.Lys117Ter)	ATP7A (K117*)	Single nucleotide variant (nonsense)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1724300	NM_000052.7(ATP7A):c.360_363delinsAA (p.Gln121fs)	ATP7A (Q121fs)	Indel (frameshift variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1725670	NM_000052.7(ATP7A):c.380_381del (p.Val127fs)	ATP7A (V127fs)	Deletion (frameshift variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1726836	NM_000052.7(ATP7A):c.412C>T (p.Gln138Ter)	ATP7A (Q138*)	Single nucleotide variant (nonsense)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1724174	NM_000052.7(ATP7A):c.420_423delinsCTGTCTCTTATACACAT (p.Lys140fs)	ATP7A (K140fs)	Indel (frameshift variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1725085	NM_000052.7(ATP7A):c.469_470del (p.Ser157fs)	ATP7A (S157fs)	Deletion (frameshift variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1726665	NM_000052.7(ATP7A):c.520A>T (p.Lys174Ter)	ATP7A (K174*)	Single nucleotide variant (nonsense)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1724030	NM_000052.7(ATP7A):c.526A>T (p.Lys176Ter)	ATP7A (K176*)	Single nucleotide variant (nonsense)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1726238	NM_000052.7(ATP7A):c.706_707insTC (p.Ala236fs)	ATP7A (A236fs)	Insertion (frameshift variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1723955	NM_000052.7(ATP7A):c.753_755delinsA (p.Asp251fs)	ATP7A (D251fs)	Indel (frameshift variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1724989	NM_000052.7(ATP7A):c.973_974del (p.Val326fs)	ATP7A (V326fs)	Deletion (frameshift variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1725671	NM_000052.7(ATP7A):c.1077del (p.Ser360fs)	ATP7A (S360fs)	Deletion (frameshift variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1724680	NM_000052.7(ATP7A):c.1139_1142delinsGAA (p.Val380fs)	ATP7A (V380fs)	Indel (frameshift variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1726143	NM_000052.7(ATP7A):c.1172del (p.Cys391fs)	ATP7A (C391fs)	Deletion (frameshift variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1724486	NM_000052.7(ATP7A):c.1257_1267del (p.Glu420fs)	ATP7A (E420fs)	Deletion (frameshift variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1724063	NM_000052.7(ATP7A):c.1296_1297del (p.Gly433fs)	ATP7A (G433fs)	Microsatellite (frameshift variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1725358	NM_000052.7(ATP7A):c.1415_1416insATACA (p.Lys473fs)	ATP7A (K473fs)	Insertion (frameshift variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1725486	NM_000052.7(ATP7A):c.1419_1420insCTCT (p.Gly474fs)	ATP7A (G474fs)	Insertion (frameshift variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1724878	NM_000052.7(ATP7A):c.1424_1425del (p.Met475fs)	ATP7A (M475fs)	Deletion (frameshift variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1724321	NM_000052.7(ATP7A):c.1439_1443del (p.Asp480fs)	ATP7A (D480fs)	Deletion (frameshift variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1724735	NM_000052.7(ATP7A):c.1465_1466del (p.Lys489fs)	ATP7A (K489fs)	Deletion (frameshift variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1726085	NM_000052.7(ATP7A):c.1537dup (p.Glu513fs)	ATP7A (E513fs)	Duplication (frameshift variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1725595	NM_000052.7(ATP7A):c.1599_1603delinsGAGA (p.Asn533fs)	ATP7A (N533fs)	Indel (frameshift variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1725593	NM_000052.7(ATP7A):c.1605del (p.Val536fs)	ATP7A (V536fs)	Deletion (frameshift variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1725597	NM_000052.7(ATP7A):c.1608_1611del (p.Ile537fs)	ATP7A (I537fs)	Deletion (frameshift variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1726243	NM_000052.7(ATP7A):c.1614_1615delinsCAT (p.Gln538fs)	ATP7A (Q538fs)	Indel (frameshift variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1724336	NM_000052.7(ATP7A):c.1697del (p.Leu566fs)	ATP7A (L566fs)	Deletion (frameshift variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1725877	NM_000052.7(ATP7A):c.1768A>T (p.Arg590Ter)	ATP7A (R590*)	Single nucleotide variant (nonsense)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1724179	NM_000052.7(ATP7A):c.1875_1876del (p.Gly626fs)	ATP7A (G626fs)	Deletion (frameshift variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1724988	NM_000052.7(ATP7A):c.1924_1925del (p.Asp642fs)	ATP7A (D642fs)	Deletion (frameshift variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1724652	NM_000052.7(ATP7A):c.1924del (p.Asp642fs)	ATP7A (D642fs)	Deletion (frameshift variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1724717	NM_000052.7(ATP7A):c.2045_2046del (p.His682fs)	ATP7A (H682fs)	Deletion (frameshift variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1726452	NM_000052.7(ATP7A):c.2051del (p.Asn684fs)	ATP7A (N684fs)	Deletion (frameshift variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1725630	NM_000052.7(ATP7A):c.2086_2087del (p.His696fs)	ATP7A (H696fs)	Deletion (frameshift variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1724086	NM_000052.7(ATP7A):c.2110C>T (p.Gln704Ter)	ATP7A (Q704*)	Single nucleotide variant (nonsense)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1724917	NM_000052.7(ATP7A):c.2164_2167del (p.Pro722fs)	ATP7A (P722fs)	Deletion (frameshift variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1725124	NM_000052.7(ATP7A):c.2207del (p.Tyr736fs)	ATP7A (Y736fs)	Deletion (frameshift variant +1 more)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1725515	NM_000052.7(ATP7A):c.2224A>T (p.Lys742Ter)	ATP7A (K742*)	Single nucleotide variant (nonsense +1 more)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1726090	NM_000052.7(ATP7A):c.2261_2262del (p.Thr754fs)	ATP7A (T754fs)	Deletion (frameshift variant +1 more)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1726119	NM_000052.7(ATP7A):c.2334dup (p.Thr779fs)	ATP7A (T779fs)	Duplication (frameshift variant +1 more)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1726798	NM_000052.7(ATP7A):c.2953del (p.Ile985fs)	ATP7A (I907fs +1 more)	Deletion (frameshift variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1726181	NM_000052.7(ATP7A):c.3013G>T (p.Gly1005Ter)	ATP7A (G1005* +1 more)	Single nucleotide variant (nonsense)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1725295	NM_000052.7(ATP7A):c.3081del (p.Gly1028fs)	ATP7A (G1028fs +1 more)	Deletion (frameshift variant)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1726957	NM_000052.7(ATP7A):c.3209_3210del (p.His1070fs)	ATP7A (H1070fs +1 more)	Microsatellite (frameshift variant +1 more)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1726752	NM_000052.7(ATP7A):c.3289A>T (p.Lys1097Ter)	ATP7A (K1019* +1 more)	Single nucleotide variant (nonsense +1 more)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1726853	NM_000052.7(ATP7A):c.3499_3500delinsA (p.Ala1167fs)	ATP7A (A1089fs +1 more)	Indel (frameshift variant +1 more)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1726734	NM_000052.7(ATP7A):c.3515_3522delinsAAG (p.Ala1172fs)	ATP7A (A1094fs +1 more)	Indel (frameshift variant +1 more)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1726694	NM_000052.7(ATP7A):c.3518_3519del (p.Leu1173fs)	ATP7A (L1095fs +1 more)	Deletion (frameshift variant +1 more)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1724435	NM_000052.7(ATP7A):c.3612_3613del (p.Glu1205fs)	ATP7A (E1127fs +1 more)	Deletion (frameshift variant +1 more)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1723931	NM_000052.7(ATP7A):c.3667_3669delinsA (p.Cys1223fs)	ATP7A (C1145fs +1 more)	Indel (frameshift variant +1 more)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1726558	NM_000052.7(ATP7A):c.3692del (p.Thr1231fs)	ATP7A (T1153fs +1 more)	Deletion (frameshift variant +1 more)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1723972	NM_000052.7(ATP7A):c.3793_3794del (p.Ala1265fs)	ATP7A (A1187fs +1 more)	Deletion (frameshift variant +1 more)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1726628	NM_000052.7(ATP7A):c.3853A>T (p.Lys1285Ter)	ATP7A (K1207* +1 more)	Single nucleotide variant (nonsense +1 more)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1725312	NM_000052.7(ATP7A):c.4040T>A (p.Leu1347Ter)	ATP7A (L1269* +1 more)	Single nucleotide variant (nonsense +1 more)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic
Select item 1725565	NM_000052.7(ATP7A):c.4043C>A (p.Ser1348Ter)	ATP7A (S1270* +1 more)	Single nucleotide variant (nonsense +1 more)	X-linked distal spinal muscular atrophy type 3 +2 more	GLikely pathogenic

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Items: 61