3329[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 146616	GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1	ANKAR, ANKRD44 +329 more	Copy number loss	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 57395	GRCh38/hg38 2q32.3-33.1(chr2:194515159-198545937)x1	ANKRD44, ANKRD44-AS1 +118 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146015	GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1	ABI2, ALS2 +279 more	Copy number loss	See cases	GPathogenic
Select item 154446	GRCh38/hg38 2q33.1(chr2:197125460-199741748)x1	LOC129935350, LOC129935351 +69 more	Copy number loss	See cases	GPathogenic
Select item 146362	GRCh38/hg38 2q33.1(chr2:197400023-202089348)x1	ALS2, AOX1 +145 more	Copy number loss	See cases	GLikely pathogenic
Select item 895688	NM_002156.5(HSPD1):c.*459T>G	HSPD1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 13	GUncertain significance
Select item 333301	NM_002156.5(HSPD1):c.*454T>G	HSPD1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 13	GUncertain significance
Select item 333302	NM_002156.5(HSPD1):c.*384T>A	HSPD1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 13	GUncertain significance
Select item 333303	NM_002156.5(HSPD1):c.*313A>G	HSPD1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 13	GUncertain significance
Select item 895969	NM_002156.5(HSPD1):c.*121T>C	HSPD1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 13	GUncertain significance
Select item 333304	NM_002156.5(HSPD1):c.*56G>A	HSPD1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 13	GUncertain significance
Select item 458207	Single allele	HSPD1	Duplication	Spastic paraplegia	GUncertain significance
Select item 333305	NM_002156.5(HSPD1):c.*18dup	HSPD1	Duplication (3 prime UTR variant)	Spastic paraplegia, autosomal dominant +1 more	GConflicting classifications of pathogenicity
Select item 422847	NM_002156.5(HSPD1):c.*18del	HSPD1	Deletion (3 prime UTR variant)	not specified	GLikely benign
Select item 2682605	NM_002156.5(HSPD1):c.*16T>C	HSPD1	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 1256095	NM_002156.5(HSPD1):c.1701_1712del (p.565GGGM[1])	HSPD1	Deletion (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 410975	NM_002156.5(HSPD1):c.1712G>T (p.Gly571Val)	HSPD1 (G571V)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 1415601	NM_002156.5(HSPD1):c.1702A>G (p.Met568Val)	HSPD1 (M568V)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2083046	NM_002156.5(HSPD1):c.1701T>C (p.Gly567=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 410973	NM_002156.5(HSPD1):c.1689_1700dup (p.565GGGM[3])	HSPD1	Duplication (inframe_insertion)	Spastic paraplegia	GLikely benign
Select item 137563	NM_002156.5(HSPD1):c.1688G>C (p.Gly563Ala)	HSPD1 (G563A)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 2573487	NM_002156.5(HSPD1):c.1679_1687del (p.Ala560_Gly562del)	HSPD1	Deletion (inframe_deletion)	not specified	GUncertain significance
Select item 800207	NM_002156.5(HSPD1):c.1681A>G (p.Met561Val)	HSPD1 (M561V)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GLikely benign
Select item 2726003	NM_002156.5(HSPD1):c.1676G>A (p.Gly559Asp)	HSPD1 (G559D)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2909180	NM_002156.5(HSPD1):c.1661A>T (p.Lys554Met)	HSPD1 (K554M)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 3338749	NM_002156.5(HSPD1):c.1658A>G (p.Glu553Gly)	HSPD1 (E553G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1972246	NM_002156.5(HSPD1):c.1651A>G (p.Lys551Glu)	HSPD1 (K551E)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 3340237	NM_002156.5(HSPD1):c.1625C>G (p.Ala542Gly)	HSPD1 (A542G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1111144	NM_002156.5(HSPD1):c.1614G>C (p.Leu538=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2633904	NM_002156.5(HSPD1):c.1612_1613del (p.Leu538fs)	HSPD1 (L538fs)	Microsatellite (frameshift variant)	HSPD1-related disorder	GUncertain significance
Select item 1962349	NM_002156.5(HSPD1):c.1612C>T (p.Leu538=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3343254	NM_002156.5(HSPD1):c.1607C>G (p.Ala536Gly)	HSPD1 (A536G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 216941	NM_002156.5(HSPD1):c.1607C>T (p.Ala536Val)	HSPD1 (A536V)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 2148068	NM_002156.5(HSPD1):c.1585T>C (p.Leu529=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2167561	NM_002156.5(HSPD1):c.1570-12A>T	HSPD1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 1574083	NM_002156.5(HSPD1):c.1570-16_1570-13del	HSPD1	Microsatellite (intron variant)	Spastic paraplegia	GBenign
Select item 1326803	NM_002156.5(HSPD1):c.1570-138A>G	HSPD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2030754	NM_002156.5(HSPD1):c.1569+19T>G	HSPD1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2957531	NM_002156.5(HSPD1):c.1569+11G>C	HSPD1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2022596	NM_002156.5(HSPD1):c.1569+10T>A	HSPD1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 1693856	NM_002156.5(HSPD1):c.1569+5del	HSPD1	Deletion (intron variant)	not provided	GUncertain significance
Select item 2720696	NM_002156.5(HSPD1):c.1565C>G (p.Thr522Arg)	HSPD1 (T522R)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1476590	NM_002156.5(HSPD1):c.1556T>C (p.Ile519Thr)	HSPD1 (I519T)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1344353	NM_002156.5(HSPD1):c.1545A>G (p.Glu515=)	HSPD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1354757	NM_002156.5(HSPD1):c.1542G>A (p.Val514=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GUncertain significance
Select item 2005420	NM_002156.5(HSPD1):c.1530T>A (p.Phe510Leu)	HSPD1 (F510L)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1317035	NM_002156.5(HSPD1):c.1510G>A (p.Asp504Asn)	HSPD1 (D504N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1986408	NM_002156.5(HSPD1):c.1497A>C (p.Ser499=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 390700	NM_002156.5(HSPD1):c.1488A>G (p.Gln496=)	HSPD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +3 more	GLikely benign
Select item 1357217	NM_002156.5(HSPD1):c.1474G>C (p.Glu492Gln)	HSPD1 (E492Q)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 392132	NM_002156.5(HSPD1):c.1464T>C (p.Ser488=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GLikely benign
Select item 2693833	NM_002156.5(HSPD1):c.1462T>A (p.Ser488Thr)	HSPD1 (S488T)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1438035	NM_002156.5(HSPD1):c.1461A>T (p.Gly487=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GUncertain significance
Select item 333306	NM_002156.5(HSPD1):c.1446T>C (p.Asn482=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GBenign
Select item 2198957	NM_002156.5(HSPD1):c.1443G>C (p.Lys481Asn)	HSPD1 (K481N)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2753545	NM_002156.5(HSPD1):c.1434C>T (p.Thr478=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 895970	NM_002156.5(HSPD1):c.1434C>G (p.Thr478=)	HSPD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +2 more	GBenign/Likely benign
Select item 2017924	NM_002156.5(HSPD1):c.1429A>G (p.Met477Val)	HSPD1 (M477V)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 445865	NM_002156.5(HSPD1):c.1426G>T (p.Ala476Ser)	HSPD1 (A476S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1562546	NM_002156.5(HSPD1):c.1413A>G (p.Thr471=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 976190	NM_002156.5(HSPD1):c.1394_1406del (p.Ile465fs)	HSPD1 (I465fs)	Deletion (frameshift variant)	Hypomyelinating leukodystrophy 4	GUncertain significance
Select item 799511	NM_002156.5(HSPD1):c.1401T>C (p.Ile467=)	HSPD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 458227	NM_002156.5(HSPD1):c.1393A>G (p.Ile465Val)	HSPD1 (I465V)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2196128	NM_002156.5(HSPD1):c.1392T>C (p.Gly464=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2002265	NM_002156.5(HSPD1):c.1391-12A>G	HSPD1	Single nucleotide variant (intron variant)	Spastic paraplegia	GUncertain significance
Select item 1980034	NM_002156.5(HSPD1):c.1391-15G>A	HSPD1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2713009	NM_002156.5(HSPD1):c.1391-17C>T	HSPD1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 1916878	NM_002156.5(HSPD1):c.1390+15T>C	HSPD1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 1574154	NM_002156.5(HSPD1):c.1390+11dup	HSPD1	Duplication (intron variant)	Spastic paraplegia	GLikely benign
Select item 895971	NM_002156.5(HSPD1):c.1388T>C (p.Ile463Thr)	HSPD1 (I463T)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 13	GUncertain significance
Select item 1722779	NM_002156.5(HSPD1):c.1381C>A (p.Gln461Lys)	HSPD1 (Q461K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 561192	NM_002156.5(HSPD1):c.1381C>G (p.Gln461Glu)	HSPD1	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 13	GPathogenic
Select item 239102	NM_002156.5(HSPD1):c.1360T>C (p.Leu454=)	HSPD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 13 +4 more	GBenign
Select item 527986	NM_002156.5(HSPD1):c.1324T>C (p.Cys442Arg)	HSPD1 (C442R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1344352	NM_002156.5(HSPD1):c.1294G>T (p.Val432Phe)	HSPD1 (V432F)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1016855	NM_002156.5(HSPD1):c.1294G>A (p.Val432Ile)	HSPD1 (V432I)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 1335435	NM_002156.5(HSPD1):c.1272C>T (p.Ala424=)	HSPD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1705500	NM_002156.5(HSPD1):c.1257C>A (p.Asp419Glu)	HSPD1 (D419E)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 4	GUncertain significance
Select item 2432543	NM_002156.5(HSPD1):c.1253A>C (p.Lys418Thr)	HSPD1 (K418T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2189911	NM_002156.5(HSPD1):c.1224G>A (p.Gly408=)	HSPD1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 527982	NM_002156.5(HSPD1):c.1219G>A (p.Gly407Ser)	HSPD1 (G407S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 137562	NM_002156.5(HSPD1):c.1216-9C>T	HSPD1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 1293445	NM_002156.5(HSPD1):c.1216-54A>T	HSPD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1389969	NM_002156.5(HSPD1):c.1215+17T>A	HSPD1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3239512	NM_002156.5(HSPD1):c.1215+1G>A	HSPD1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 333307	NM_002156.5(HSPD1):c.1207G>A (p.Val403Met)	HSPD1 (V403M)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 2045971	NM_002156.5(HSPD1):c.1189C>G (p.Leu397Val)	HSPD1 (L397V)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1721295	NM_002156.5(HSPD1):c.1186A>G (p.Lys396Glu)	HSPD1 (K396E)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 3007952	NM_002156.5(HSPD1):c.1180C>T (p.Leu394Phe)	HSPD1 (L394F)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1962148	NM_002156.5(HSPD1):c.1175A>G (p.Glu392Gly)	HSPD1 (E392G)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1907642	NM_002156.5(HSPD1):c.1157A>C (p.Glu386Ala)	HSPD1 (E386A)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance

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