9119[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC111674474, LOC111674475 +2212 more	Copy number gain	See cases	GPathogenic
Select item 57092	GRCh38/hg38 7q22.1-22.3(chr7:101525795-105432462)x3	ALKBH4, ARMC10 +149 more	Copy number gain	See cases	GPathogenic
Select item 57255	GRCh38/hg38 7q22.1-31.1(chr7:101807149-112414850)x1	ALKBH4, ARMC10 +292 more	Copy number loss	See cases	GPathogenic
Select item 148448	GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	ALKBH4, ANKRD7 +474 more	Copy number loss	See cases	GPathogenic
Select item 148748	GRCh38/hg38 7q22.1(chr7:102692380-103350914)x3	ARMC10, DNAJC2 +19 more	Copy number gain	See cases	GLikely benign
Select item 60283	GRCh38/hg38 7q22.1-22.3(chr7:102808199-105701108)x1	ARMC10, ATXN7L1 +86 more	Copy number loss	See cases	GPathogenic
Select item 1234182	NC_000007.14:g.103297313A>G	PMPCB	Single nucleotide variant	not provided	GBenign
Select item 1179481	NM_004279.3(PMPCB):c.-23C>T	LOC129999056, PMPCB	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 3049888	NM_004279.3(PMPCB):c.-7A>G	LOC129999056, PMPCB	Single nucleotide variant (5 prime UTR variant)	PMPCB-related disorder	GLikely benign
Select item 1031399	NM_004279.3(PMPCB):c.-3G>T	LOC129999056, PMPCB	Single nucleotide variant (5 prime UTR variant)	PMPCB-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1335687	NM_004279.3(PMPCB):c.8C>T (p.Ala3Val)	LOC129999056, PMPCB (A3V)	Single nucleotide variant (missense variant)	PMPCB-related disorder +2 more	GBenign/Likely benign
Select item 2689795	NM_004279.3(PMPCB):c.19C>G (p.Arg7Gly)	LOC129999056, PMPCB (R7G)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 6	GUncertain significance
Select item 1909344	NM_004279.3(PMPCB):c.21A>C (p.Arg7=)	LOC129999056, PMPCB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1030758	NM_004279.3(PMPCB):c.28T>G (p.Leu10Val)	LOC129999056, PMPCB (L10V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1341818	NM_004279.3(PMPCB):c.32C>A (p.Ser11Ter)	LOC129999056, PMPCB (S11*)	Single nucleotide variant (nonsense)	Multiple mitochondrial dysfunctions syndrome 6	GLikely pathogenic
Select item 3061229	NM_004279.3(PMPCB):c.43_47dup (p.Arg17fs)	LOC129999056, PMPCB (R17fs)	Microsatellite (frameshift variant)	PMPCB-related disorder	GUncertain significance
Select item 1701532	NM_004279.3(PMPCB):c.99+115C>T	LOC129999056, PMPCB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1176867	NM_004279.3(PMPCB):c.100-8C>T	PMPCB	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1268549	NM_004279.3(PMPCB):c.104T>C (p.Leu35Ser)	PMPCB (L35S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1806211	NM_004279.3(PMPCB):c.122G>A (p.Arg41Lys)	PMPCB (R41K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2227950	NM_004279.3(PMPCB):c.136C>A (p.Gln46Lys)	PMPCB (Q46K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1030757	NM_004279.3(PMPCB):c.150A>C (p.Gln50His)	PMPCB (Q50H)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 6	GUncertain significance
Select item 2869731	NM_004279.3(PMPCB):c.165T>A (p.Val55=)	PMPCB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2920359	NM_004279.3(PMPCB):c.221C>G (p.Ser74Cys)	PMPCB (S74C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3215854	NM_004279.3(PMPCB):c.229T>C (p.Ser77Pro)	PMPCB (S77P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3046521	NM_004279.3(PMPCB):c.241-7C>G	PMPCB	Single nucleotide variant (intron variant)	PMPCB-related disorder	GLikely benign
Select item 1667690	NM_004279.3(PMPCB):c.241-6A>G	PMPCB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1280327	NM_004279.3(PMPCB):c.241-3A>G	PMPCB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1476763	NM_004279.3(PMPCB):c.290A>G (p.Asn97Ser)	PMPCB (N97S)	Single nucleotide variant (missense variant)	See cases +1 more	GUncertain significance
Select item 2061017	NM_004279.3(PMPCB):c.303C>T (p.His101=)	PMPCB	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1281221	NM_004279.3(PMPCB):c.328-43T>C	PMPCB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1987265	NM_004279.3(PMPCB):c.328-10_328-9del	PMPCB	Deletion (intron variant)	not provided +1 more	GBenign
Select item 2075245	NM_004279.3(PMPCB):c.355C>A (p.Leu119Met)	PMPCB (L119M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1437588	NM_004279.3(PMPCB):c.378G>A (p.Met126Ile)	PMPCB (M126I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2389681	NM_004279.3(PMPCB):c.392A>G (p.Asn131Ser)	PMPCB (N131S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2700940	NM_004279.3(PMPCB):c.396C>G (p.Ala132=)	PMPCB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1658699	NM_004279.3(PMPCB):c.426T>C (p.Tyr142=)	PMPCB	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1991227	NM_004279.3(PMPCB):c.458-5A>G	PMPCB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1030759	NM_004279.3(PMPCB):c.470T>G (p.Leu157Arg)	PMPCB (L157R)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 6	GUncertain significance
Select item 2274145	NM_004279.3(PMPCB):c.479T>C (p.Ile160Thr)	PMPCB (I160T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1549738	NM_004279.3(PMPCB):c.492C>T (p.Ser164=)	PMPCB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 523138	NM_004279.3(PMPCB):c.523C>T (p.Arg175Cys)	PMPCB (R175C)	Single nucleotide variant (missense variant)	PMPCB-related mitochondrial disorder +2 more	GLikely pathogenic
Select item 523140	NM_004279.3(PMPCB):c.524G>A (p.Arg175His)	PMPCB (R175H)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 6	GPathogenic
Select item 2146587	NM_004279.3(PMPCB):c.528A>T (p.Gly176=)	PMPCB	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 523141	NM_004279.3(PMPCB):c.530T>G (p.Val177Gly)	PMPCB (V177G)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 6	GPathogenic
Select item 2500914	NM_004279.3(PMPCB):c.543_544del (p.Glu181fs)	PMPCB (E181fs)	Microsatellite (frameshift variant)	Multiple mitochondrial dysfunctions syndrome 6	GLikely pathogenic
Select item 2880049	NM_004279.3(PMPCB):c.559_560insAAAAGTATGTTTCAGAAAGTAATTTTCCCCCTGGTAATCTAAGTGAAACTGTAGTTAGCT (p.Thr187delinsLysLysTyrValSerGluSerAsnPheProProGlyAsnLeuSerGluThrValValSerSer)	PMPCB	Insertion (inframe_indel)	not provided	GUncertain significance
Select item 2610503	NM_004279.3(PMPCB):c.587A>C (p.Tyr196Ser)	PMPCB (Y196S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 523139	NM_004279.3(PMPCB):c.601G>C (p.Ala201Pro)	PMPCB (A201P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1342344	NM_004279.3(PMPCB):c.606T>A (p.Tyr202Ter)	PMPCB (Y202*)	Single nucleotide variant (nonsense)	Multiple mitochondrial dysfunctions syndrome 6	GLikely pathogenic
Select item 2591168	NM_004279.3(PMPCB):c.625C>T (p.Arg209Trp)	PMPCB (R209W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2634037	NM_004279.3(PMPCB):c.626G>A (p.Arg209Gln)	PMPCB (R209Q)	Single nucleotide variant (missense variant)	PMPCB-related disorder	GUncertain significance
Select item 1659199	NM_004279.3(PMPCB):c.657-26_657-14del	PMPCB	Deletion (intron variant)	not provided	GLikely benign
Select item 1325591	NM_004279.3(PMPCB):c.661A>G (p.Ile221Val)	PMPCB (I221V)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 6 +1 more	GUncertain significance
Select item 2273942	NM_004279.3(PMPCB):c.682G>A (p.Asp228Asn)	PMPCB (D228N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2904016	NM_004279.3(PMPCB):c.684T>C (p.Asp228=)	PMPCB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2609558	NM_004279.3(PMPCB):c.688A>G (p.Ile230Val)	PMPCB (I230V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405318	NM_004279.3(PMPCB):c.698A>G (p.His233Arg)	PMPCB (H233R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2977121	NM_004279.3(PMPCB):c.716T>C (p.Ile239Thr)	PMPCB (I239T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2026250	NM_004279.3(PMPCB):c.736+20T>C	PMPCB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2421821	NM_004279.3(PMPCB):c.737-6A>G	PMPCB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1234421	NM_004279.3(PMPCB):c.737-3T>C	PMPCB	Single nucleotide variant (intron variant)	Multiple mitochondrial dysfunctions syndrome 6 +2 more	GBenign
Select item 3215856	NM_004279.3(PMPCB):c.781G>A (p.Gly261Ser)	PMPCB (G261S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264097	NM_004279.3(PMPCB):c.820C>G (p.Leu274Val)	PMPCB (L274V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369206	NM_004279.3(PMPCB):c.838A>T (p.Thr280Ser)	PMPCB (T280S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2961050	NM_004279.3(PMPCB):c.849+15C>G	PMPCB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3215857	NM_004279.3(PMPCB):c.853C>T (p.Arg285Cys)	PMPCB (R285C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1915066	NM_004279.3(PMPCB):c.871A>G (p.Met291Val)	PMPCB (M291V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2060075	NM_004279.3(PMPCB):c.881C>T (p.Ala294Val)	PMPCB (A294V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2121369	NM_004279.3(PMPCB):c.886C>T (p.Leu296Phe)	PMPCB (L296F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2388004	NM_004279.3(PMPCB):c.894A>G (p.Ile298Met)	PMPCB (I298M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1601646	NM_004279.3(PMPCB):c.935G>A (p.Cys312Tyr)	PMPCB (C312Y)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3215859	NM_004279.3(PMPCB):c.947C>T (p.Ala316Val)	PMPCB (A316V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2896349	NM_004279.3(PMPCB):c.954G>A (p.Thr318=)	PMPCB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2404580	NM_004279.3(PMPCB):c.973C>T (p.Arg325Cys)	PMPCB (R325C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208471	NM_004279.3(PMPCB):c.980T>C (p.Phe327Ser)	PMPCB (F327S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1677390	NM_004279.3(PMPCB):c.993+1G>A	PMPCB	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1669413	NM_004279.3(PMPCB):c.993+19A>G	PMPCB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1241629	NM_004279.3(PMPCB):c.994-45G>A	PMPCB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3041653	NM_004279.3(PMPCB):c.994-9dup	PMPCB	Duplication (intron variant)	PMPCB-related disorder	GLikely benign
Select item 2754043	NM_004279.3(PMPCB):c.994-7C>A	PMPCB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3215860	NM_004279.3(PMPCB):c.995A>G (p.Asn332Ser)	PMPCB (N332S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3015453	NM_004279.3(PMPCB):c.1009C>T (p.Leu337=)	PMPCB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2326829	NM_004279.3(PMPCB):c.1029T>G (p.His343Gln)	PMPCB (H343Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354257	NM_004279.3(PMPCB):c.1034A>G (p.Asn345Ser)	PMPCB (N345S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2585259	NM_004279.3(PMPCB):c.1078dup (p.Thr360fs)	PMPCB (T360fs)	Duplication (frameshift variant)	Multiple mitochondrial dysfunctions syndrome 6	GLikely pathogenic
Select item 1030756	NM_004279.3(PMPCB):c.1087T>C (p.Trp363Arg)	PMPCB (W363R)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 6	GUncertain significance
Select item 2048265	NM_004279.3(PMPCB):c.1123G>A (p.Ala375Thr)	PMPCB (A375T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1906633	NM_004279.3(PMPCB):c.1146A>G (p.Gln382=)	PMPCB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2580358	NM_004279.3(PMPCB):c.1154+5G>C	PMPCB	Single nucleotide variant (intron variant)	PMPCB-related ataxia	GLikely pathogenic
Select item 1577864	NM_004279.3(PMPCB):c.1154+11T>C	PMPCB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181555	NM_004279.3(PMPCB):c.1154+220del	PMPCB	Deletion (intron variant)	not provided	GBenign
Select item 1288655	NM_004279.3(PMPCB):c.1155-171T>C	PMPCB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1939445	NM_004279.3(PMPCB):c.1182A>C (p.Glu394Asp)	PMPCB (E394D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1245557	NM_004279.3(PMPCB):c.1188G>T (p.Glu396Asp)	PMPCB (E396D)	Single nucleotide variant (missense variant)	PMPCB-related disorder +1 more	GBenign
Select item 2781366	NM_004279.3(PMPCB):c.1210C>T (p.Leu404=)	PMPCB	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2797421	NM_004279.3(PMPCB):c.1239T>C (p.Asp413=)	PMPCB	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1612377	NM_004279.3(PMPCB):c.1240+11A>C	PMPCB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1629082	NM_004279.3(PMPCB):c.1240+15_1240+20dup	PMPCB	Duplication (intron variant)	not provided	GLikely benign

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