DNAJB6[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 359446	NM_058246.4(DNAJB6):c.-108C>A	DNAJB6	Single nucleotide variant (5 prime UTR variant)	Myofibrillar Myopathy, Dominant +1 more	GUncertain significance
Select item 359447	NM_058246.4(DNAJB6):c.-93G>T	DNAJB6	Single nucleotide variant (5 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +1 more	GUncertain significance
Select item 359448	NM_058246.4(DNAJB6):c.-86G>A	DNAJB6	Single nucleotide variant (5 prime UTR variant)	Myofibrillar Myopathy, Dominant +2 more	GBenign/Likely benign
Select item 359449	NM_058246.4(DNAJB6):c.-85G>T	DNAJB6	Single nucleotide variant (5 prime UTR variant)	Myofibrillar Myopathy, Dominant +1 more	GConflicting classifications of pathogenicity
Select item 909311	NM_058246.4(DNAJB6):c.-77G>A	DNAJB6	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 909312	NM_058246.4(DNAJB6):c.-63C>G	DNAJB6	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) +1 more	GBenign/Likely benign
Select item 359450	NM_058246.4(DNAJB6):c.-43G>T	DNAJB6	Single nucleotide variant (5 prime UTR variant)	Myofibrillar Myopathy, Dominant +1 more	GBenign/Likely benign
Select item 1293058	NM_058246.4(DNAJB6):c.-27+144C>T	DNAJB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224222	NM_058246.4(DNAJB6):c.-27+191A>T	DNAJB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679289	NM_058246.4(DNAJB6):c.-26-218C>T	DNAJB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180109	NM_058246.4(DNAJB6):c.-26-55C>T	DNAJB6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 262304	NM_058246.4(DNAJB6):c.-26-7C>T	DNAJB6	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) +3 more	GBenign
Select item 585789	NM_058246.4(DNAJB6):c.-8C>G	DNAJB6	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 286580	NM_058246.4(DNAJB6):c.-8C>T	DNAJB6	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 288978	NM_058246.4(DNAJB6):c.-7G>A	DNAJB6	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 1601914	NM_058246.4(DNAJB6):c.21T>G (p.Val7=)	DNAJB6	Single nucleotide variant (synonymous variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 2197696	NM_058246.4(DNAJB6):c.27C>T (p.Gly9=)	DNAJB6	Single nucleotide variant (synonymous variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 849625	NM_058246.4(DNAJB6):c.40G>T (p.Ala14Ser)	DNAJB6 (A14S)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 1509258	NM_058246.4(DNAJB6):c.45dup (p.Pro16fs)	DNAJB6 (P16fs)	Duplication (frameshift variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 3352929	NM_058246.4(DNAJB6):c.48C>A (p.Pro16=)	DNAJB6	Single nucleotide variant (synonymous variant)	DNAJB6-related disorder	GLikely benign
Select item 2104511	NM_058246.4(DNAJB6):c.48C>G (p.Pro16=)	DNAJB6	Single nucleotide variant (synonymous variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 282322	NM_058246.4(DNAJB6):c.48C>T (p.Pro16=)	DNAJB6	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2030975	NM_058246.4(DNAJB6):c.49G>T (p.Glu17Ter)	DNAJB6 (E17*)	Single nucleotide variant (nonsense)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 2634824	NM_058246.4(DNAJB6):c.52G>A (p.Asp18Asn)	DNAJB6 (D18N)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) +1 more	GUncertain significance
Select item 1912265	NM_058246.4(DNAJB6):c.55A>G (p.Ile19Val)	DNAJB6 (I19V)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 784920	NM_058246.4(DNAJB6):c.57T>C (p.Ile19=)	DNAJB6	Single nucleotide variant (synonymous variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 2848198	NM_058246.4(DNAJB6):c.59A>G (p.Lys20Arg)	DNAJB6 (K20R)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 1353506	NM_058246.4(DNAJB6):c.62A>G (p.Lys21Arg)	DNAJB6 (K21R)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 283684	NM_058246.4(DNAJB6):c.63G>A (p.Lys21=)	DNAJB6	Single nucleotide variant (synonymous variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) +1 more	GConflicting classifications of pathogenicity
Select item 286197	NM_058246.4(DNAJB6):c.64G>A (p.Ala22Thr)	DNAJB6 (A22T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881078	NM_058246.4(DNAJB6):c.65C>T (p.Ala22Val)	DNAJB6 (A22V)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 538666	NM_058246.4(DNAJB6):c.65+2T>C	DNAJB6	Single nucleotide variant (splice donor variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 2028919	NM_058246.4(DNAJB6):c.65+12del	DNAJB6	Deletion (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GBenign
Select item 2015928	NM_058246.4(DNAJB6):c.65+9T>C	DNAJB6	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 1669223	NM_058246.4(DNAJB6):c.65+17C>A	DNAJB6	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 1231900	NM_058246.4(DNAJB6):c.65+45A>G	DNAJB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679396	NM_058246.4(DNAJB6):c.65+151_65+152insAAG	DNAJB6	Insertion (intron variant)	not provided	GLikely benign
Select item 668117	NM_058246.4(DNAJB6):c.65+297T>C	DNAJB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679397	NM_058246.4(DNAJB6):c.66-79G>C	DNAJB6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2910836	NM_058246.4(DNAJB6):c.66-16C>T	DNAJB6	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 1554497	NM_058246.4(DNAJB6):c.66-12A>G	DNAJB6	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 1666635	NM_058246.4(DNAJB6):c.66-9C>G	DNAJB6	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 569249	NM_058246.4(DNAJB6):c.66-5C>A	DNAJB6	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 961702	NM_058246.4(DNAJB6):c.66-3A>C	DNAJB6	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 1801203	NM_058246.4(DNAJB6):c.66-2A>G	DNAJB6	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 943547	NM_058246.4(DNAJB6):c.66A>G (p.Ala22=)	DNAJB6	Single nucleotide variant (synonymous variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) +1 more	GConflicting classifications of pathogenicity
Select item 704403	NM_058246.4(DNAJB6):c.69T>C (p.Tyr23=)	DNAJB6	Single nucleotide variant (synonymous variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 565410	NM_058246.4(DNAJB6):c.69T>A (p.Tyr23Ter)	DNAJB6 (Y23*)	Single nucleotide variant (nonsense)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 2727435	NM_058246.4(DNAJB6):c.70C>T (p.Arg24Trp)	DNAJB6 (R24W)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 1110035	NM_058246.4(DNAJB6):c.75A>G (p.Lys25=)	DNAJB6	Single nucleotide variant (synonymous variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 1700582	NM_058246.4(DNAJB6):c.78G>A (p.Leu26=)	DNAJB6	Single nucleotide variant (synonymous variant)	Muscle weakness	GUncertain significance
Select item 784842	NM_058246.4(DNAJB6):c.81A>G (p.Ala27=)	DNAJB6	Single nucleotide variant (synonymous variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GBenign
Select item 1003621	NM_058246.4(DNAJB6):c.114del (p.Asn38fs)	DNAJB6 (N38fs)	Deletion (frameshift variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 706613	NM_058246.4(DNAJB6):c.114T>C (p.Asn38=)	DNAJB6	Single nucleotide variant (synonymous variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 1432950	NM_058246.4(DNAJB6):c.122A>C (p.Glu41Ala)	DNAJB6 (E41A)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 1038641	NM_058246.4(DNAJB6):c.122A>G (p.Glu41Gly)	DNAJB6 (E41G)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 651360	NM_058246.4(DNAJB6):c.133A>G (p.Lys45Glu)	DNAJB6 (K45E)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 1978034	NM_058246.4(DNAJB6):c.135A>G (p.Lys45=)	DNAJB6	Single nucleotide variant (synonymous variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 963673	NM_058246.4(DNAJB6):c.142C>G (p.Gln48Glu)	DNAJB6 (Q48E)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 500303	NM_058246.4(DNAJB6):c.149C>T (p.Ala50Val)	DNAJB6 (A50V)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GPathogenic/Likely pathogenic
Select item 1368168	NM_058246.4(DNAJB6):c.156A>G (p.Ala52=)	DNAJB6	Single nucleotide variant (synonymous variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 1348530	NM_058246.4(DNAJB6):c.160G>A (p.Glu54Lys)	DNAJB6 (E54K)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 2723429	NM_058246.4(DNAJB6):c.165G>A (p.Val55=)	DNAJB6	Single nucleotide variant (synonymous variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 1577451	NM_058246.4(DNAJB6):c.166C>T (p.Leu56=)	DNAJB6	Single nucleotide variant (synonymous variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 1463231	NM_058246.4(DNAJB6):c.170C>T (p.Ser57Leu)	DNAJB6 (S57L)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 1588732	NM_058246.4(DNAJB6):c.171G>A (p.Ser57=)	DNAJB6	Single nucleotide variant (synonymous variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 2440937	NM_058246.4(DNAJB6):c.172G>C (p.Asp58His)	DNAJB6 (D58H)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 1501373	NM_058246.4(DNAJB6):c.173A>G (p.Asp58Gly)	DNAJB6 (D58G)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 387563	NM_058246.4(DNAJB6):c.175+13G>A	DNAJB6	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) +1 more	GLikely benign
Select item 1204816	NM_058246.4(DNAJB6):c.175+60G>A	DNAJB6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679302	NM_058246.4(DNAJB6):c.175+79T>C	DNAJB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1298062	NM_058246.4(DNAJB6):c.175+152T>C	DNAJB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680752	NM_058246.4(DNAJB6):c.175+187C>T	DNAJB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679290	NM_058246.4(DNAJB6):c.175+247G>A	DNAJB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671726	NM_058246.4(DNAJB6):c.175+278G>C	DNAJB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195203	NM_058246.4(DNAJB6):c.176-164G>A	DNAJB6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1213378	NM_058246.4(DNAJB6):c.176-119C>T	DNAJB6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215285	NM_058246.4(DNAJB6):c.176-50T>C	DNAJB6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 262305	NM_058246.4(DNAJB6):c.176-20A>G	DNAJB6	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) +2 more	GBenign
Select item 1592810	NM_058246.4(DNAJB6):c.176-11T>A	DNAJB6	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 838617	NM_058246.4(DNAJB6):c.176-10C>A	DNAJB6	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 1637066	NM_058246.4(DNAJB6):c.177T>C (p.Ala59=)	DNAJB6	Single nucleotide variant (synonymous variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 374048	NM_058246.4(DNAJB6):c.179A>G (p.Lys60Arg)	DNAJB6 (K60R)	Single nucleotide variant (missense variant)	Muscle weakness +2 more	GUncertain significance
Select item 1928884	NM_058246.4(DNAJB6):c.182A>G (p.Lys61Arg)	DNAJB6 (K61R)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 2053620	NM_058246.4(DNAJB6):c.183A>G (p.Lys61=)	DNAJB6	Single nucleotide variant (synonymous variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 285188	NM_058246.4(DNAJB6):c.184C>T (p.Arg62Trp)	DNAJB6 (R62W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 359451	NM_058246.4(DNAJB6):c.188A>G (p.Asp63Gly)	DNAJB6 (D63G)	Single nucleotide variant (missense variant)	Myofibrillar Myopathy, Dominant +1 more	GUncertain significance
Select item 2817224	NM_058246.4(DNAJB6):c.189C>T (p.Asp63=)	DNAJB6	Single nucleotide variant (synonymous variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 1308170	NM_058246.4(DNAJB6):c.192C>G (p.Ile64Met)	DNAJB6 (I64M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3017689	NM_058246.4(DNAJB6):c.194A>G (p.Tyr65Cys)	DNAJB6 (Y65C)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 804750	NM_058246.4(DNAJB6):c.203A>G (p.Tyr68Cys)	DNAJB6 (Y68C)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) +1 more	GUncertain significance
Select item 2197217	NM_058246.4(DNAJB6):c.204T>C (p.Tyr68=)	DNAJB6	Single nucleotide variant (synonymous variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 2085037	NM_058246.4(DNAJB6):c.219A>G (p.Leu73=)	DNAJB6	Single nucleotide variant (synonymous variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 910286	NM_058246.4(DNAJB6):c.230G>A (p.Gly77Glu)	DNAJB6 (G77E)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 282541	NM_058246.4(DNAJB6):c.230G>T (p.Gly77Val)	DNAJB6 (G77V)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) +1 more	GUncertain significance
Select item 2110924	NM_058246.4(DNAJB6):c.233G>A (p.Gly78Glu)	DNAJB6 (G78E)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 391781	NM_058246.4(DNAJB6):c.235+8C>T	DNAJB6	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1581084	NM_058246.4(DNAJB6):c.235+9G>A	DNAJB6	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 1096353	NM_058246.4(DNAJB6):c.235+9del	DNAJB6	Deletion (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 283706	NM_058246.4(DNAJB6):c.235+9G>T	DNAJB6	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity

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