55149[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 150600	GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3	ABI1, ACBD5 +376 more	Copy number gain	See cases	GLikely pathogenic
Select item 1196895	NM_018109.4(MTPAP):c.*146G>A	MTPAP	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1429438	NM_018109.4(MTPAP):c.1736G>A (p.Ser579Asn)	MTPAP (S579N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2274801	NM_018109.4(MTPAP):c.1732A>G (p.Ile578Val)	MTPAP (I578V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2009969	NM_018109.4(MTPAP):c.1727G>C (p.Arg576Thr)	MTPAP (R576T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2022645	NM_018109.4(MTPAP):c.1718G>A (p.Ser573Asn)	MTPAP (S573N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684268	NM_018109.4(MTPAP):c.1693A>G (p.Arg565Gly)	MTPAP (R565G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2006140	NM_018109.4(MTPAP):c.1688G>C (p.Gly563Ala)	MTPAP (G563A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2101781	NM_018109.4(MTPAP):c.1678T>C (p.Ser560Pro)	MTPAP (S560P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2477523	NM_018109.4(MTPAP):c.1676A>C (p.Glu559Ala)	MTPAP (E559A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1028088	NM_018109.4(MTPAP):c.1673T>C (p.Leu558Pro)	MTPAP (L558P)	Single nucleotide variant (missense variant)	Spastic ataxia 4	GUncertain significance
Select item 2173443	NM_018109.4(MTPAP):c.1672C>T (p.Leu558=)	MTPAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 994684	NM_018109.4(MTPAP):c.1667A>C (p.Asn556Thr)	MTPAP (N556T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1966767	NM_018109.4(MTPAP):c.1664A>G (p.Lys555Arg)	MTPAP (K555R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 447742	NM_018109.4(MTPAP):c.1643A>C (p.Lys548Thr)	MTPAP (K548T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 506930	NM_018109.4(MTPAP):c.1640A>G (p.Asn547Ser)	MTPAP (N547S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 378180	NM_018109.4(MTPAP):c.1637G>A (p.Ser546Asn)	MTPAP (S546N)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 2085783	NM_018109.4(MTPAP):c.1628A>C (p.Lys543Thr)	MTPAP (K543T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2182204	NM_018109.4(MTPAP):c.1624A>G (p.Thr542Ala)	MTPAP (T542A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3217341	NM_018109.4(MTPAP):c.1613G>C (p.Arg538Thr)	MTPAP (R538T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2023407	NM_018109.4(MTPAP):c.1612A>C (p.Arg538=)	MTPAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 447741	NM_018109.4(MTPAP):c.1607C>G (p.Pro536Arg)	MTPAP (P536R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2019149	NM_018109.4(MTPAP):c.1606C>G (p.Pro536Ala)	MTPAP (P536A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2065125	NM_018109.4(MTPAP):c.1599A>G (p.Pro533=)	MTPAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2114755	NM_018109.4(MTPAP):c.1597C>T (p.Pro533Ser)	MTPAP (P533S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2192760	NM_018109.4(MTPAP):c.1594C>G (p.Leu532Val)	MTPAP (L532V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2107962	NM_018109.4(MTPAP):c.1578G>C (p.Gly526=)	MTPAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1927748	NM_018109.4(MTPAP):c.1568G>A (p.Arg523Gln)	MTPAP (R523Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1805662	NM_018109.4(MTPAP):c.1567C>T (p.Arg523Trp)	MTPAP (R523W)	Single nucleotide variant (missense variant)	Spastic ataxia 4	GUncertain significance
Select item 1359213	NM_018109.4(MTPAP):c.1565A>G (p.Asn522Ser)	MTPAP (N522S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2024132	NM_018109.4(MTPAP):c.1564A>G (p.Asn522Asp)	MTPAP (N522D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1494230	NM_018109.4(MTPAP):c.1550C>T (p.Pro517Leu)	MTPAP (P517L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1429705	NM_018109.4(MTPAP):c.1546C>G (p.Arg516Gly)	MTPAP (R516G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1447716	NM_018109.4(MTPAP):c.1544A>C (p.Asp515Ala)	MTPAP (D515A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2979087	NM_018109.4(MTPAP):c.1542A>G (p.Thr514=)	MTPAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1976593	NM_018109.4(MTPAP):c.1541C>A (p.Thr514Lys)	MTPAP (T514K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1993840	NM_018109.4(MTPAP):c.1536A>G (p.Glu512=)	MTPAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2103493	NM_018109.4(MTPAP):c.1534G>A (p.Glu512Lys)	MTPAP (E512K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1365285	NM_018109.4(MTPAP):c.1533G>C (p.Gln511His)	MTPAP (Q511H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2289929	NM_018109.4(MTPAP):c.1508G>A (p.Arg503Gln)	MTPAP (R503Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3217330	NM_018109.4(MTPAP):c.1493T>G (p.Phe498Cys)	MTPAP (F498C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1386022	NM_018109.4(MTPAP):c.1491A>C (p.Lys497Asn)	MTPAP (K497N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 586157	NM_018109.4(MTPAP):c.1485G>A (p.Leu495=)	MTPAP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1326255	NM_018109.4(MTPAP):c.1484T>G (p.Leu495Arg)	MTPAP (L495R)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1971133	NM_018109.4(MTPAP):c.1478G>T (p.Ser493Ile)	MTPAP (S493I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1963881	NM_018109.4(MTPAP):c.1478G>C (p.Ser493Thr)	MTPAP (S493T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2796663	NM_018109.4(MTPAP):c.1468G>A (p.Val490Ile)	MTPAP (V490I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 374341	NM_018109.4(MTPAP):c.1468G>T (p.Val490Leu)	MTPAP (V490L)	Single nucleotide variant (missense variant)	Spastic ataxia 4	GUncertain significance
Select item 1027494	NM_018109.4(MTPAP):c.1464A>C (p.Lys488Asn)	MTPAP (K488N)	Single nucleotide variant (missense variant)	Spastic ataxia	GLikely pathogenic
Select item 2803745	NM_018109.4(MTPAP):c.1446T>A (p.Thr482=)	MTPAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1355851	NM_018109.4(MTPAP):c.1445C>T (p.Thr482Ile)	MTPAP (T482I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 18391	NM_018109.4(MTPAP):c.1432A>G (p.Asn478Asp)	MTPAP (N478D)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2149724	NM_018109.4(MTPAP):c.1426A>G (p.Ile476Val)	MTPAP (I476V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2135597	NM_018109.4(MTPAP):c.1419T>C (p.Pro473=)	MTPAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 447740	NM_018109.4(MTPAP):c.1393G>A (p.Glu465Lys)	MTPAP (E465K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 994651	NM_018109.4(MTPAP):c.1387-1G>A	MTPAP	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1943959	NM_018109.4(MTPAP):c.1387-10T>C	MTPAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2117507	NM_018109.4(MTPAP):c.1387-16G>A	MTPAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1940491	NM_018109.4(MTPAP):c.1387-18C>T	MTPAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216002	NM_018109.4(MTPAP):c.1387-90A>G	MTPAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202974	NM_018109.4(MTPAP):c.1387-97G>A	MTPAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673194	NM_018109.4(MTPAP):c.1387-295A>G	MTPAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673315	NM_018109.4(MTPAP):c.1386+241C>T	MTPAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195340	NM_018109.4(MTPAP):c.1386+131G>A	MTPAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1294250	NM_018109.4(MTPAP):c.1386+114del	MTPAP	Deletion (intron variant)	not provided	GBenign
Select item 1295258	NM_018109.4(MTPAP):c.1386+107T>C	MTPAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1632484	NM_018109.4(MTPAP):c.1386+18A>G	MTPAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1927310	NM_018109.4(MTPAP):c.1386+16C>T	MTPAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 506832	NM_018109.4(MTPAP):c.1386+6T>C	MTPAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1976460	NM_018109.4(MTPAP):c.1382G>A (p.Arg461Gln)	MTPAP (R461Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1942947	NM_018109.4(MTPAP):c.1372A>G (p.Ile458Val)	MTPAP (I458V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 761087	NM_018109.4(MTPAP):c.1359C>T (p.Phe453=)	MTPAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 994650	NM_018109.4(MTPAP):c.1353T>C (p.Phe451=)	MTPAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1309355	NM_018109.4(MTPAP):c.1344T>G (p.Phe448Leu)	MTPAP (F448L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 805054	NM_018109.4(MTPAP):c.1325A>G (p.Lys442Arg)	MTPAP (K442R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1615909	NM_018109.4(MTPAP):c.1320A>G (p.Leu440=)	MTPAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 515096	NM_018109.4(MTPAP):c.1313-3C>T	MTPAP	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2128637	NM_018109.4(MTPAP):c.1313-29_1313-13del	MTPAP	Deletion (intron variant)	not provided	GUncertain significance
Select item 2699624	NM_018109.4(MTPAP):c.1312+20C>G	MTPAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1989649	NM_018109.4(MTPAP):c.1312+16T>C	MTPAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2081806	NM_018109.4(MTPAP):c.1312+3_1312+6del	MTPAP	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 1934851	NM_018109.4(MTPAP):c.1312+6T>C	MTPAP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1364677	NM_018109.4(MTPAP):c.1312+5G>C	MTPAP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 261004	NM_018109.4(MTPAP):c.1312+3A>G	MTPAP	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1916351	NM_018109.4(MTPAP):c.1308A>G (p.Thr436=)	MTPAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1805661	NM_018109.4(MTPAP):c.1283T>C (p.Ile428Thr)	MTPAP (I428T)	Single nucleotide variant (missense variant)	Spastic ataxia 4	GUncertain significance
Select item 378179	NM_018109.4(MTPAP):c.1278T>C (p.Ser426=)	MTPAP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 518001	NM_018109.4(MTPAP):c.1260A>G (p.Thr420=)	MTPAP	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1944645	NM_018109.4(MTPAP):c.1256G>A (p.Cys419Tyr)	MTPAP (C419Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 586156	NM_018109.4(MTPAP):c.1255T>G (p.Cys419Gly)	MTPAP (C419G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1331214	NM_018109.4(MTPAP):c.1244A>G (p.Glu415Gly)	MTPAP (E415G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1951882	NM_018109.4(MTPAP):c.1242A>G (p.Ile414Met)	MTPAP (I414M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2971087	NM_018109.4(MTPAP):c.1236T>C (p.Cys412=)	MTPAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1807064	NM_018109.4(MTPAP):c.1228G>T (p.Asp410Tyr)	MTPAP (D410Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1921958	NM_018109.4(MTPAP):c.1220-5T>G	MTPAP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1570127	NM_018109.4(MTPAP):c.1220-7G>A	MTPAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 770204	NM_018109.4(MTPAP):c.1220-7G>T	MTPAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 770205	NM_018109.4(MTPAP):c.1220-9G>T	MTPAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2131576	NM_018109.4(MTPAP):c.1220-12T>A	MTPAP	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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