ClinVar for Gene (Select 79586) - ClinVar

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Links from Gene

Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 3144516	NM_024536.6(CHPF):c.715C>G (p.Pro239Ala)	CHPF (P77A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144515	NM_024536.6(CHPF):c.668A>G (p.His223Arg)	CHPF (H223R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144514	NM_024536.6(CHPF):c.43C>A (p.Pro15Thr)	CHPF, LOC129935658 (P15T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144513	NM_024536.6(CHPF):c.409G>T (p.Val137Leu)	CHPF (V137L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3144512	NM_024536.6(CHPF):c.229G>C (p.Gly77Arg)	CHPF, LOC129935657 (G77R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144511	NM_024536.6(CHPF):c.2279C>A (p.Thr760Asn)	CHPF (T598N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144509	NM_024536.6(CHPF):c.2165C>T (p.Ala722Val)	CHPF (A722V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144508	NM_024536.6(CHPF):c.2146A>G (p.Ser716Gly)	CHPF (S716G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3144507	NM_024536.6(CHPF):c.2134C>T (p.Leu712Phe)	CHPF (L550F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144506	NM_024536.6(CHPF):c.2099A>T (p.Glu700Val)	CHPF (E700V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144505	NM_024536.6(CHPF):c.2095G>C (p.Glu699Gln)	CHPF (E537Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144503	NM_024536.6(CHPF):c.2026G>A (p.Glu676Lys)	CHPF (E514K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144502	NM_024536.6(CHPF):c.1926G>A (p.Met642Ile)	CHPF (M642I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144499	NM_024536.6(CHPF):c.1324C>T (p.Arg442Trp)	CHPF (R280W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144498	NM_024536.6(CHPF):c.1232G>A (p.Arg411His)	CHPF (R249H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144497	NM_024536.6(CHPF):c.1178G>A (p.Arg393His)	CHPF (R231H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685878	GRCh37/hg19 2q35(chr2:220368252-221475943)x3	ASIC4, CHPF +6 more	Copy number gain	not provided	GUncertain significance
Select item 2685877	GRCh37/hg19 2q35(chr2:220169575-220625221)x3	ASIC4, CHPF +11 more	Copy number gain	not provided	GUncertain significance
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2616352	NM_024536.6(CHPF):c.2131T>A (p.Phe711Ile)	CHPF (F711I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608816	NM_024536.6(CHPF):c.1025G>A (p.Arg342Gln)	CHPF (R180Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604773	NM_024536.6(CHPF):c.947C>T (p.Pro316Leu)	CHPF (P154L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2599464	NM_024536.6(CHPF):c.1478G>A (p.Arg493His)	CHPF (R493H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596541	NM_024536.6(CHPF):c.1654C>T (p.Arg552Cys)	CHPF (R390C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595269	NM_024536.6(CHPF):c.1058A>G (p.Gln353Arg)	CHPF (Q353R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592191	NM_024536.6(CHPF):c.1880G>A (p.Arg627His)	CHPF (R465H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2523989	NM_024536.6(CHPF):c.1447C>T (p.Arg483Cys)	CHPF (R321C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521473	NM_024536.6(CHPF):c.2212G>A (p.Ala738Thr)	CHPF (A576T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516299	NM_024536.6(CHPF):c.1694C>T (p.Pro565Leu)	CHPF (P403L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507567	NM_024536.6(CHPF):c.2086G>C (p.Glu696Gln)	CHPF (E534Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487562	NM_024536.6(CHPF):c.1465C>T (p.Arg489Trp)	CHPF (R327W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469995	NM_024536.6(CHPF):c.1667G>A (p.Arg556His)	CHPF (R556H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464131	NM_024536.6(CHPF):c.1727G>A (p.Arg576His)	CHPF (R414H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458654	NM_024536.6(CHPF):c.1073A>G (p.Glu358Gly)	CHPF (E196G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403995	NM_024536.6(CHPF):c.2092G>C (p.Glu698Gln)	CHPF (E536Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394960	NM_024536.6(CHPF):c.2189G>A (p.Arg730His)	CHPF (R568H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387552	NM_024536.6(CHPF):c.1292A>G (p.Glu431Gly)	CHPF (E431G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377151	NM_024536.6(CHPF):c.2098G>A (p.Glu700Lys)	CHPF (E538K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374494	NM_024536.6(CHPF):c.1270G>A (p.Asp424Asn)	CHPF (D424N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374073	NM_024536.6(CHPF):c.2314G>A (p.Gly772Ser)	CHPF (G772S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373740	NM_024536.6(CHPF):c.1520G>A (p.Arg507His)	CHPF (R345H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371816	NM_024536.6(CHPF):c.1556G>A (p.Arg519His)	CHPF (R357H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337942	NM_024536.6(CHPF):c.707A>G (p.Glu236Gly)	CHPF (E74G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310374	NM_024536.6(CHPF):c.1028C>G (p.Ala343Gly)	CHPF (A343G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293552	NM_024536.6(CHPF):c.1616C>T (p.Ala539Val)	CHPF (A539V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277435	NM_024536.6(CHPF):c.1742G>A (p.Arg581Gln)	CHPF (R581Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269543	NM_024536.6(CHPF):c.1911G>C (p.Gln637His)	CHPF (Q475H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262333	NM_024536.6(CHPF):c.1433G>A (p.Arg478His)	CHPF (R316H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257366	NM_024536.6(CHPF):c.1693C>T (p.Pro565Ser)	CHPF (P403S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239257	NM_024536.6(CHPF):c.2092G>A (p.Glu698Lys)	CHPF (E698K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239066	NM_024536.6(CHPF):c.170A>G (p.Asn57Ser)	CHPF, LOC129935658 (N57S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238532	NM_024536.6(CHPF):c.1843G>A (p.Gly615Arg)	CHPF (G615R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231340	NM_024536.6(CHPF):c.1448G>A (p.Arg483His)	CHPF (R483H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225489	NM_024536.6(CHPF):c.1021G>A (p.Ala341Thr)	CHPF (A179T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211691	NM_024536.6(CHPF):c.1129G>A (p.Val377Met)	CHPF (V215M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526953	GRCh37/hg19 2q35-37.3(chr2:219606537-239217703)	FBXO36, UGT1A5 +147 more	Copy number loss	not specified	GPathogenic
Select item 1526950	GRCh37/hg19 2q34-36.1(chr2:215108009-221679980)	AAMP, ABCA12 +72 more	Copy number gain	not specified	GPathogenic
Select item 1434778	NC_000002.11:g.(?_218999525)_(220435954_?)dup	CFAP65, CHPF +50 more	Duplication	Paroxysmal nonkinesigenic dyskinesia +1 more	GUncertain significance
Select item 1180532	GRCh37/hg19 2q35-36.3(chr2:220056891-227164817)x1	PTPRN, RESP18 +36 more	Copy number loss	not provided	GPathogenic
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 816573	GRCh37/hg19 2q35(chr2:216883237-220953003)x3	CXCR2, FEV +65 more	Copy number gain	not provided	GPathogenic
Select item 791892	NM_024536.6(CHPF):c.142T>C (p.Ser48Pro)	CHPF, LOC129935658 (S48P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 786494	NM_024536.6(CHPF):c.2097G>A (p.Glu699=)	CHPF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 562681	GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3	ABCB6, ACKR3 +183 more	Copy number gain	not provided	GPathogenic
Select item 562674	GRCh37/hg19 2q35-36.3(chr2:218813434-227450699)x1	AAMP, ABCB6 +71 more	Copy number loss	not provided	GPathogenic
Select item 549857	Single allele	ATG9A, DNPEP +23 more	Deletion	Heart, malformation of +3 more	GPathogenic
Select item 493568	GRCh37/hg19 2q35-36.3(chr2:217374144-227643620)x1	IRS1, KCNE4 +77 more	Copy number loss	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 442002	GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	AAMP, ABCA12 +225 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	AAMP, ABCB6 +986 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	ABCA12, ABCB6 +1687 more	Copy number gain	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	LOC129935413, LOC129935414 +1097 more	Copy number gain	See cases	GPathogenic
Select item 149033	GRCh38/hg38 2q35(chr2:219081620-219758878)x3	ABCB6, ANKZF1 +77 more	Copy number gain	See cases	GUncertain significance
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	OR6B3, OTOS +1148 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 58844	GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1	ABCB6, ACSL3 +195 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC126806461, LOC126806467 +1299 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 84