ClinVar for Gene (Select 10049) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 587

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4335652	NM_058246.4(DNAJB6):c.898+1G>C	DNAJB6	Single nucleotide variant (splice donor variant)	Not Specified
Select item 4335651	NM_058246.4(DNAJB6):c.691+4A>T	DNAJB6 (K232M)	Single nucleotide variant (missense variant +1 more)	Not Specified
Select item 4335650	NM_058246.4(DNAJB6):c.627C>A (p.Val209=)	DNAJB6	Single nucleotide variant (synonymous variant +1 more)	Not Specified
Select item 4335649	NM_058246.4(DNAJB6):c.620+46C>G	DNAJB6	Single nucleotide variant (intron variant)	Not Specified
Select item 4335648	NM_058246.4(DNAJB6):c.620+1G>T	DNAJB6	Single nucleotide variant (splice donor variant +1 more)	Not Specified
Select item 4335647	NM_058246.4(DNAJB6):c.429G>T (p.Ala143=)	DNAJB6	Single nucleotide variant (synonymous variant +1 more)	Not Specified
Select item 4335646	NM_058246.4(DNAJB6):c.347-1G>T	DNAJB6	Single nucleotide variant (splice acceptor variant +1 more)	Not Specified
Select item 4335645	NM_058246.4(DNAJB6):c.176-182A>T	DNAJB6	Single nucleotide variant (intron variant)	Not Specified
Select item 4335644	NM_058246.4(DNAJB6):c.175+1G>T	DNAJB6	Single nucleotide variant (splice donor variant)	Not Specified
Select item 4335643	NM_058246.4(DNAJB6):c.66-1G>T	DNAJB6	Single nucleotide variant (splice acceptor variant)	Not Specified
Select item 4335642	NM_058246.4(DNAJB6):c.66-251A>G	DNAJB6	Single nucleotide variant (intron variant)	Not Specified
Select item 4243082	NM_058246.4(DNAJB6):c.761C>T (p.Pro254Leu)	DNAJB6 (P254L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4243081	NM_058246.4(DNAJB6):c.643A>G (p.Arg215Gly)	DNAJB6 (R215G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 4243080	NM_058246.4(DNAJB6):c.145G>T (p.Val49Leu)	DNAJB6 (V49L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4078503	NM_058246.4(DNAJB6):c.589A>G (p.Met197Val)	DNAJB6 (M197V)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 4078502	NM_058246.4(DNAJB6):c.833AGG[5] (p.Glu280_Gly281insGluGlu)	DNAJB6	Microsatellite (inframe_insertion)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 4013539	NM_058246.4(DNAJB6):c.295G>A (p.Val99Ile)	DNAJB6 (V99I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4013538	NM_058246.4(DNAJB6):c.974A>G (p.Asn325Ser)	DNAJB6 (N210S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3912048	NM_058246.4(DNAJB6):c.175+12C>T	DNAJB6	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3910661	NM_058246.4(DNAJB6):c.898+51G>T	DNAJB6	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3899811	NM_058246.4(DNAJB6):c.821A>G (p.His274Arg)	DNAJB6 (H159R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3719330	NM_058246.4(DNAJB6):c.594T>G (p.Val198=)	DNAJB6	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 3715485	NM_058246.4(DNAJB6):c.963G>T (p.Ser321=)	DNAJB6	Single nucleotide variant (synonymous variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 3713211	NM_058246.4(DNAJB6):c.235G>A (p.Gly79Ser)	DNAJB6 (G79S)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 3709994	NM_058246.4(DNAJB6):c.347-18G>A	DNAJB6	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 3706387	NM_058246.4(DNAJB6):c.357T>G (p.Phe119Leu)	DNAJB6 (F119L)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 3703825	NM_058246.4(DNAJB6):c.745G>C (p.Ala249Pro)	DNAJB6 (A134P +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 3703235	NM_058246.4(DNAJB6):c.692-12C>T	DNAJB6	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 3701226	NM_058246.4(DNAJB6):c.212A>C (p.Glu71Ala)	DNAJB6 (E71A)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 3701013	NM_058246.4(DNAJB6):c.692-8G>A	DNAJB6	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 3699189	NM_058246.4(DNAJB6):c.175+9C>T	DNAJB6	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 3698775	NM_058246.4(DNAJB6):c.621-8dup	DNAJB6	Duplication (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GBenign
Select item 3694849	NM_058246.4(DNAJB6):c.621-6C>T	DNAJB6	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 3686908	NM_058246.4(DNAJB6):c.207C>G (p.Gly69=)	DNAJB6	Single nucleotide variant (synonymous variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 3686700	NM_058246.4(DNAJB6):c.695T>C (p.Val232Ala)	DNAJB6 (V117A +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 3683843	NM_058246.4(DNAJB6):c.176C>A (p.Ala59Asp)	DNAJB6 (A59D)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 3678344	NM_058246.4(DNAJB6):c.645A>T (p.Arg215Ser)	DNAJB6 (R215S)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 3662713	NM_058246.4(DNAJB6):c.491T>C (p.Phe164Ser)	DNAJB6 (F164S)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 3661856	NM_058246.4(DNAJB6):c.707A>G (p.Asp236Gly)	DNAJB6 (D236G +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 3654184	NM_058246.4(DNAJB6):c.584_587del (p.Thr195fs)	DNAJB6 (T195fs)	Deletion (frameshift variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 3651211	NM_058246.4(DNAJB6):c.898+1G>T	DNAJB6	Single nucleotide variant (splice donor variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 3644986	NM_058246.4(DNAJB6):c.467del (p.Ser156fs)	DNAJB6 (S156fs)	Deletion (frameshift variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 3632068	NM_058246.4(DNAJB6):c.346+19T>C	DNAJB6	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 3627402	NM_058246.4(DNAJB6):c.522A>G (p.Ser174=)	DNAJB6	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 3604685	NM_058246.4(DNAJB6):c.176-19C>A	DNAJB6	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 3604681	NM_058246.4(DNAJB6):c.335T>C (p.Phe112Ser)	DNAJB6 (F112S)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 3604462	NM_058246.4(DNAJB6):c.715G>T (p.Ala239Ser)	DNAJB6 (A124S +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 3391899	GRCh37/hg19 7q35-36.3(chr7:147773827-159119707)x1	ABCB8, ABCF2 +80 more	Copy number loss	not provided	GPathogenic
Select item 3391847	GRCh37/hg19 7q34-36.3(chr7:142491993-159119707)x3	ABCB8, ABCF2 +121 more	Copy number gain	not provided	GPathogenic
Select item 3379800	NM_058246.4(DNAJB6):c.672A>C (p.Leu224Phe)	DNAJB6 (L224F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3371152	NM_058246.4(DNAJB6):c.106C>T (p.Pro36Ser)	DNAJB6 (P36S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3352929	NM_058246.4(DNAJB6):c.48C>A (p.Pro16=)	DNAJB6	Single nucleotide variant (synonymous variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GBenign
Select item 3273042	NM_058246.4(DNAJB6):c.590T>C (p.Met197Thr)	DNAJB6 (M197T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3273040	NM_058246.4(DNAJB6):c.634G>A (p.Gly212Ser)	DNAJB6 (G212S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3273039	NM_058246.4(DNAJB6):c.365T>A (p.Phe122Tyr)	DNAJB6 (F122Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3248620	NM_058246.4(DNAJB6):c.845A>T (p.Glu282Val)	DNAJB6 (E167V +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 3245892	NC_000007.13:g.(?_156798214)_(157202715_?)dup	DNAJB6, MNX1 +1 more	Duplication	not provided	GUncertain significance
Select item 3148948	GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3	CRYGN, CTAGE15 +125 more	Copy number gain	See cases	GPathogenic
Select item 3084402	NM_058246.4(DNAJB6):c.569C>T (p.Ser190Leu)	DNAJB6 (S190L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3084401	NM_058246.4(DNAJB6):c.518C>T (p.Thr173Ile)	DNAJB6 (T173I)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) +1 more	GUncertain significance
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 3062957	GRCh37/hg19 7q36.3(chr7:155607058-159119707)x1	DNAJB6, DYNC2I1 +9 more	Copy number loss	not specified	GPathogenic
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 3014118	NM_058246.4(DNAJB6):c.340_341delinsGA (p.Phe114Asp)	DNAJB6 (F114D)	Indel (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 3008089	NM_058246.4(DNAJB6):c.386C>A (p.Pro129His)	DNAJB6 (P129H)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 3002363	NM_058246.4(DNAJB6):c.285C>G (p.Asn95Lys)	DNAJB6 (N95K)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 2990740	NM_058246.4(DNAJB6):c.744C>T (p.Asn248=)	DNAJB6	Single nucleotide variant (synonymous variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 2989479	NM_058246.4(DNAJB6):c.377G>A (p.Arg126Gln)	DNAJB6 (R126Q)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 2986871	NM_058246.4(DNAJB6):c.235+13G>A	DNAJB6	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 2970581	NM_058246.4(DNAJB6):c.235+20C>G	DNAJB6	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 2961881	NM_058246.4(DNAJB6):c.621-17_621-16delinsTG	DNAJB6	Indel (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 2956429	NM_058246.4(DNAJB6):c.607A>G (p.Ile203Val)	DNAJB6 (I203V)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 2920301	NM_058246.4(DNAJB6):c.885C>T (p.Leu295=)	DNAJB6	Single nucleotide variant (synonymous variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	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 2900348	NM_058246.4(DNAJB6):c.730C>T (p.Arg244Trp)	DNAJB6 (R129W +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 2889961	NM_058246.4(DNAJB6):c.235+12A>G	DNAJB6	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 2881078	NM_058246.4(DNAJB6):c.65C>T (p.Ala22Val)	DNAJB6 (A22V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2880242	NM_058246.4(DNAJB6):c.382G>A (p.Gly128Ser)	DNAJB6 (G128S)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 2865394	NM_058246.4(DNAJB6):c.235+19dup	DNAJB6	Duplication (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GBenign
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 2820856	NM_058246.4(DNAJB6):c.980A>G (p.Ter327Trp)	DNAJB6	Single nucleotide variant (stop lost)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	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 2790096	NM_058246.4(DNAJB6):c.797C>T (p.Ala266Val)	DNAJB6 (A151V +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 2789830	NM_058246.4(DNAJB6):c.886G>A (p.Ala296Thr)	DNAJB6 (A181T +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 2784292	NM_058246.4(DNAJB6):c.725G>A (p.Arg242His)	DNAJB6 (R242H +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 2765690	NM_058246.4(DNAJB6):c.715G>C (p.Ala239Pro)	DNAJB6 (A124P +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 2764897	NM_058246.4(DNAJB6):c.639A>G (p.Gln213=)	DNAJB6	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 2759224	NM_058246.4(DNAJB6):c.408G>C (p.Gly136=)	DNAJB6	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 2757772	NM_058246.4(DNAJB6):c.787_788delinsTT (p.Pro263Phe)	DNAJB6 (P148F +1 more)	Indel (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 2747570	NM_058246.4(DNAJB6):c.938G>C (p.Arg313Thr)	DNAJB6 (R198T +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 2740252	NM_058246.4(DNAJB6):c.508G>A (p.Gly170Arg)	DNAJB6 (G170R)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 2733923	NM_058246.4(DNAJB6):c.479-14C>T	DNAJB6	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 2732529	NM_058246.4(DNAJB6):c.476C>A (p.Thr159Lys)	DNAJB6 (T159K)	Single nucleotide variant (missense variant +1 more)	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 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 2721879	NM_058246.4(DNAJB6):c.621-18T>G	DNAJB6	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 2719376	NM_058246.4(DNAJB6):c.236-17G>A	DNAJB6	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 2715712	NM_058246.4(DNAJB6):c.346+11C>T	DNAJB6	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 2705769	NM_058246.4(DNAJB6):c.590T>A (p.Met197Lys)	DNAJB6 (M197K)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 2704387	NM_058246.4(DNAJB6):c.620+16_620+17delinsAT	DNAJB6	Indel (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance

<< First< Prev

Page of 6