54968[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC130000015, LOC130000016 +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	DEFA1B, DEFA3 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	LOC110121192, LOC110121196 +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	AARD, ABRA +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	LOC130000067, LOC130000068 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	GPAT4, GPAT4-AS1 +3106 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC130000897, LOC130000898 +1960 more	Copy number gain	See cases	GPathogenic
Select item 59787	GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3	SNHG6, SNORD87 +421 more	Copy number gain	See cases	GPathogenic
Select item 59788	GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3	ADHFE1, ARFGEF1 +417 more	Copy number gain	See cases	GPathogenic
Select item 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000722, LOC130000723 +470 more	Copy number gain	See cases	GPathogenic
Select item 148965	GRCh38/hg38 8q13.1-21.13(chr8:66633845-80100089)x3	ARFGEF1, ARFGEF1-DT +245 more	Copy number gain	See cases	GPathogenic
Select item 59789	GRCh38/hg38 8q13.3-21.11(chr8:70948393-74353284)x3	C8orf89, ELOC +78 more	Copy number gain	See cases	GPathogenic
Select item 57417	GRCh38/hg38 8q21.11-21.13(chr8:73519300-82655582)x1	CASC9, CHMP4C +169 more	Copy number loss	See cases	GPathogenic
Select item 560150	Single allele	ELOC, GDAP1 +19 more	Deletion	Charcot-Marie-Tooth disease axonal type 2K	GUncertain significance
Select item 60377	GRCh38/hg38 8q21.11-21.2(chr8:73879385-85611466)x1	LOC130000617, LOC130000618 +191 more	Copy number loss	See cases	GPathogenic
Select item 58992	GRCh38/hg38 8q21.11-21.13(chr8:73962355-74749460)x1	ELOC, GDAP1 +21 more	Copy number loss	See cases	GUncertain significance
Select item 684008	NM_017866.5(TMEM70):c.-468T>C	TMEM70	Single nucleotide variant	not provided	GBenign
Select item 1212724	NC_000008.11:g.73975891T>A	TMEM70	Single nucleotide variant	not provided	GLikely benign
Select item 676048	NM_017866.5(TMEM70):c.-264C>A	LOC130000613, TMEM70	Single nucleotide variant	not provided	GLikely benign
Select item 1707282	NC_000008.11:g.73976058GCGGGCGGCAG[10]	LOC130000613, TMEM70	Microsatellite	not provided	GLikely benign
Select item 1234801	NC_000008.11:g.73976058GCGGGCGGCAG[9]	LOC130000613, TMEM70	Microsatellite	not provided	GBenign
Select item 1248803	NC_000008.11:g.73976058GCGGGCGGCAG[2]	LOC130000613, TMEM70	Microsatellite	not provided	GBenign
Select item 1200878	NC_000008.11:g.73976058GCGGGCGGCAG[5]	LOC130000613, TMEM70	Microsatellite	not provided	GLikely benign
Select item 1183909	NC_000008.11:g.73976058GCGGGCGGCAG[6]	TMEM70, LOC130000613	Microsatellite	not provided	GLikely benign
Select item 363685	NM_017866.5(TMEM70):c.-95C>T	TMEM70	Single nucleotide variant	Mitochondrial proton-transporting ATP synthase complex deficiency	GUncertain significance
Select item 509553	NM_017866.6(TMEM70):c.-71_-47dup	TMEM70	Duplication (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 911838	NM_017866.6(TMEM70):c.-53G>A	TMEM70	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 908887	NM_017866.6(TMEM70):c.-39G>A	TMEM70	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 363686	NM_017866.6(TMEM70):c.-39G>T	TMEM70	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 363687	NM_017866.6(TMEM70):c.-23C>T	TMEM70	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 +1 more	GBenign
Select item 658994	NC_000008.10:g.(?_74888497)_(75274233_?)dup	GDAP1, JPH1 +13 more	Duplication	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 583679	NC_000008.11:g.(?_73976262)_(73981641_?)del	LOC130000614, TMEM70	Deletion	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GPathogenic
Select item 363688	NM_017866.6(TMEM70):c.-15C>G	TMEM70	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 908888	NM_017866.6(TMEM70):c.-13C>A	TMEM70	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 936698	NM_017866.6(TMEM70):c.2T>C (p.Met1Thr)	TMEM70 (M1T)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely pathogenic
Select item 1641589	NM_017866.6(TMEM70):c.6G>C (p.Leu2=)	TMEM70	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 1439000	NM_017866.6(TMEM70):c.10C>G (p.Leu4Val)	TMEM70 (L4V)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 1435260	NM_017866.6(TMEM70):c.11T>G (p.Leu4Arg)	TMEM70 (L4R)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 1910113	NM_017866.6(TMEM70):c.16T>C (p.Leu6=)	TMEM70	Single nucleotide variant (non-coding transcript variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 2123547	NM_017866.6(TMEM70):c.22_23delinsCC (p.Ser8Pro)	TMEM70 (S8P)	Indel (missense variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 1408668	NM_017866.6(TMEM70):c.24C>A (p.Ser8Arg)	TMEM70 (S8R)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 203983	NM_017866.6(TMEM70):c.25C>T (p.Pro9Ser)	TMEM70 (P9S)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1963247	NM_017866.6(TMEM70):c.26C>T (p.Pro9Leu)	TMEM70 (P9L)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 2819165	NM_017866.6(TMEM70):c.27G>C (p.Pro9=)	TMEM70	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 2697923	NM_017866.6(TMEM70):c.27G>T (p.Pro9=)	TMEM70	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 2138392	NM_017866.6(TMEM70):c.30_31dup (p.Ala11fs)	TMEM70 (A11fs)	Duplication (frameshift variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GPathogenic
Select item 1570498	NM_017866.6(TMEM70):c.36C>A (p.Val12=)	TMEM70	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 513097	NM_017866.6(TMEM70):c.42G>A (p.Leu14=)	TMEM70	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1897273	NM_017866.6(TMEM70):c.43C>T (p.Pro15Ser)	TMEM70 (P15S)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 1389236	NM_017866.6(TMEM70):c.44C>T (p.Pro15Leu)	TMEM70 (P15L)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 1079455	NM_017866.6(TMEM70):c.48C>T (p.Leu16=)	TMEM70	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 1389611	NM_017866.6(TMEM70):c.56GGA[1] (p.Arg20del)	TMEM70 (R20del)	Microsatellite (inframe_deletion +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 1985309	NM_017866.6(TMEM70):c.57G>C (p.Arg19Ser)	TMEM70 (R19S)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 2851084	NM_017866.6(TMEM70):c.58A>C (p.Arg20=)	TMEM70	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 2007937	NM_017866.6(TMEM70):c.66A>G (p.Ala22=)	TMEM70	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 1921148	NM_017866.6(TMEM70):c.67T>G (p.Leu23Val)	TMEM70 (L23V)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 1618176	NM_017866.6(TMEM70):c.67T>C (p.Leu23=)	TMEM70	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 1467583	NM_017866.6(TMEM70):c.68T>G (p.Leu23Trp)	TMEM70 (L23W)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 1104245	NM_017866.6(TMEM70):c.69G>T (p.Leu23Phe)	TMEM70 (L23F)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 +1 more	GConflicting classifications of pathogenicity
Select item 1504121	NM_017866.6(TMEM70):c.70T>C (p.Cys24Arg)	TMEM70 (C24R)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 1935003	NM_017866.6(TMEM70):c.75G>A (p.Ala25=)	TMEM70	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 1585104	NM_017866.6(TMEM70):c.75G>T (p.Ala25=)	TMEM70	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 855087	NM_017866.6(TMEM70):c.77C>T (p.Ala26Val)	TMEM70 (A26V)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 2045681	NM_017866.6(TMEM70):c.81C>T (p.Ala27=)	TMEM70	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 1550689	NM_017866.6(TMEM70):c.84G>T (p.Ala28=)	TMEM70	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 1123548	NM_017866.6(TMEM70):c.84G>C (p.Ala28=)	TMEM70	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 1411915	NM_017866.6(TMEM70):c.85C>T (p.Leu29Phe)	TMEM70 (L29F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1896086	NM_017866.6(TMEM70):c.91G>A (p.Gly31Ser)	TMEM70 (G31S)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 2174984	NM_017866.6(TMEM70):c.102_116dup (p.Ser40_Ser41insValSerArgAlaSer)	TMEM70	Duplication (inframe_insertion +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 1504136	NM_017866.6(TMEM70):c.95C>G (p.Pro32Arg)	TMEM70 (P32R)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 1074442	NM_017866.6(TMEM70):c.100dup (p.Ala34fs)	TMEM70 (A34fs)	Duplication (frameshift variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GPathogenic
Select item 380675	NM_017866.6(TMEM70):c.97C>A (p.Arg33=)	TMEM70	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 +2 more	GConflicting classifications of pathogenicity
Select item 130598	NM_017866.6(TMEM70):c.100G>C (p.Ala34Pro)	TMEM70 (A34P)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 2823737	NM_017866.6(TMEM70):c.102C>T (p.Ala34=)	TMEM70	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 807712	NM_017866.6(TMEM70):c.105dup (p.Val36fs)	TMEM70 (V36fs)	Duplication (frameshift variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely pathogenic
Select item 1979649	NM_017866.6(TMEM70):c.106G>A (p.Val36Ile)	TMEM70 (V36I)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 1417538	NM_017866.6(TMEM70):c.110C>G (p.Ser37Cys)	TMEM70 (S37C)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 203989	NM_017866.6(TMEM70):c.117_118dup (p.Ser40fs)	TMEM70 (S40fs)	Duplication (frameshift variant +1 more)	Mitochondrial proton-transporting ATP synthase complex deficiency +2 more	GPathogenic
Select item 203984	NM_017866.6(TMEM70):c.116C>G (p.Ala39Gly)	TMEM70 (A39G)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1560769	NM_017866.6(TMEM70):c.117G>A (p.Ala39=)	TMEM70	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 1616011	NM_017866.6(TMEM70):c.124A>G (p.Ser42Gly)	TMEM70 (S42G)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 363689	NM_017866.6(TMEM70):c.128G>A (p.Ser43Asn)	TMEM70 (S43N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1976515	NM_017866.6(TMEM70):c.129C>T (p.Ser43=)	TMEM70	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 1907645	NM_017866.6(TMEM70):c.135T>C (p.Pro45=)	TMEM70	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 2111712	NM_017866.6(TMEM70):c.144_167del (p.Val49_Pro56del)	TMEM70	Deletion (inframe_deletion +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 2801677	NM_017866.6(TMEM70):c.138G>A (p.Ser46=)	TMEM70	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 2683619	NM_017866.6(TMEM70):c.141del (p.Pro48fs)	TMEM70 (P48fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 203988	NM_017866.6(TMEM70):c.140G>A (p.Gly47Glu)	TMEM70 (G47E)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 2393814	NM_017866.6(TMEM70):c.143C>G (p.Pro48Arg)	TMEM70 (P48R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1419251	NM_017866.6(TMEM70):c.148G>A (p.Ala50Thr)	TMEM70 (A50T)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 1624263	NM_017866.6(TMEM70):c.150C>T (p.Ala50=)	TMEM70	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 539330	NM_017866.6(TMEM70):c.152G>T (p.Gly51Val)	TMEM70 (G51V)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 2078723	NM_017866.6(TMEM70):c.153C>T (p.Gly51=)	TMEM70	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 1127223	NM_017866.6(TMEM70):c.153C>A (p.Gly51=)	TMEM70	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 2160090	NM_017866.6(TMEM70):c.155G>C (p.Trp52Ser)	TMEM70 (W52S)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 1390018	NM_017866.6(TMEM70):c.158G>C (p.Ser53Thr)	TMEM70 (S53T)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 2743770	NM_017866.6(TMEM70):c.177dup (p.Ala60fs)	TMEM70 (A60fs)	Duplication (frameshift variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GPathogenic
Select item 2725623	NM_017866.6(TMEM70):c.177C>T (p.Ala59=)	TMEM70	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 1957636	NM_017866.6(TMEM70):c.180G>C (p.Ala60=)	TMEM70	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 2415619	NM_017866.6(TMEM70):c.181C>A (p.Arg61Ser)	TMEM70 (R61S)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance

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