ClinVar for Gene (Select 10049) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	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
Select item 2695781	NM_058246.4(DNAJB6):c.711_724dup (p.Arg242fs)	DNAJB6 (R127fs +1 more)	Duplication (frameshift variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 2694853	NM_058246.4(DNAJB6):c.346+19T>A	DNAJB6	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 2688961	NM_058246.4(DNAJB6):c.761C>G (p.Pro254Arg)	DNAJB6 (P139R +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 2685274	GRCh37/hg19 7q35-36.3(chr7:144940098-159119707)x1	INSIG1, PDIA4 +80 more	Copy number loss	not provided	GPathogenic
Select item 2685272	GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1	CLCN1, RHEB +123 more	Copy number loss	not provided	GPathogenic
Select item 2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	ARHGEF35, KEL +169 more	Copy number loss	not provided	GPathogenic
Select item 2634824	NM_058246.4(DNAJB6):c.52G>A (p.Asp18Asn)	DNAJB6 (D18N)	Single nucleotide variant (missense variant)	DNAJB6-related condition +1 more	GUncertain significance
Select item 2579275	GRCh38/hg38 7q36.2-36.3(chr7:154446117-159206757)x1	BLACE, CNPY1 +193 more	Copy number loss	Holoprosencephaly 3	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	DYNC2I1, EN2 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	AGAP3, AGK +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2537048	NM_058246.4(DNAJB6):c.705C>G (p.Asp235Glu)	DNAJB6 (D120E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2472876	NM_058246.4(DNAJB6):c.419T>G (p.Phe140Cys)	DNAJB6 (F140C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2440939	NM_058246.4(DNAJB6):c.838G>A (p.Glu280Lys)	DNAJB6 (E165K +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 2440938	NM_058246.4(DNAJB6):c.274A>C (p.Thr92Pro)	DNAJB6 (T92P)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
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 2440935	NM_058246.4(DNAJB6):c.488C>T (p.Ser163Leu)	DNAJB6 (S163L)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 2440934	NM_058246.4(DNAJB6):c.866C>G (p.Pro289Arg)	DNAJB6 (P174R +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 2440933	NM_058246.4(DNAJB6):c.725G>T (p.Arg242Leu)	DNAJB6 (R127L +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 2440932	NM_058246.4(DNAJB6):c.779C>T (p.Pro260Leu)	DNAJB6 (P145L +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 2440931	NM_058246.4(DNAJB6):c.236-1G>C	DNAJB6	Single nucleotide variant (splice acceptor variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 2440930	NM_058246.4(DNAJB6):c.425C>T (p.Ser142Phe)	DNAJB6 (S142F)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 2440929	NM_058246.4(DNAJB6):c.236-3C>G	DNAJB6	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GConflicting classifications of pathogenicity
Select item 2440928	NM_058246.4(DNAJB6):c.376C>T (p.Arg126Ter)	DNAJB6 (R126*)	Single nucleotide variant (nonsense +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 2427177	NC_000007.13:g.(?_157202469)_(157208792_?)dup	DNAJB6	Duplication	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 2427176	NC_000007.13:g.(?_157177541)_(157208792_?)dup	DNAJB6	Duplication	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 2422565	NC_000007.13:g.(?_152617597)_(158500659_?)del	CNPY1, DNAJB6 +13 more	Deletion	not provided	GPathogenic
Select item 2416711	NM_058246.4(DNAJB6):c.749_757dup (p.Ala252_Gln253insLeuProAla)	DNAJB6	Duplication (inframe_insertion)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 2322133	NM_058246.4(DNAJB6):c.349G>T (p.Asp117Tyr)	DNAJB6 (D117Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2248572	NM_058246.4(DNAJB6):c.868G>A (p.Gly290Arg)	DNAJB6 (G175R +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) +1 more	GUncertain significance
Select item 2202251	NM_058246.4(DNAJB6):c.347-17T>A	DNAJB6	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 2200693	NM_058246.4(DNAJB6):c.478+5T>G	DNAJB6	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 2200080	NM_058246.4(DNAJB6):c.636T>G (p.Gly212=)	DNAJB6	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 2198953	NM_058246.4(DNAJB6):c.621-16A>T	DNAJB6	Single nucleotide variant (intron 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 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 2195414	NM_058246.4(DNAJB6):c.235+20C>T	DNAJB6	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 2182332	NM_058246.4(DNAJB6):c.611C>T (p.Thr204Ile)	DNAJB6 (T204I)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 2174703	NM_058246.4(DNAJB6):c.235+18T>G	DNAJB6	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 2173891	NM_058246.4(DNAJB6):c.478+12C>G	DNAJB6	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 2171849	NM_058246.4(DNAJB6):c.371G>A (p.Gly124Glu)	DNAJB6 (G124E)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 2146651	NM_058246.4(DNAJB6):c.892G>A (p.Ala298Thr)	DNAJB6 (A183T +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 2143043	NM_058246.4(DNAJB6):c.574T>C (p.Ser192Pro)	DNAJB6 (S192P)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 2136635	NM_058246.4(DNAJB6):c.287C>T (p.Pro96Leu)	DNAJB6 (P96L)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GPathogenic
Select item 2123431	NM_058246.4(DNAJB6):c.385C>A (p.Pro129Thr)	DNAJB6 (P129T)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	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 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 2102443	NM_058246.4(DNAJB6):c.236-9T>C	DNAJB6	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 2101190	NM_058246.4(DNAJB6):c.620+17C>T	DNAJB6	Single nucleotide variant (intron 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 2074100	NM_058246.4(DNAJB6):c.685A>G (p.Ile229Val)	DNAJB6 (I229V)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) +1 more	GUncertain significance
Select item 2067669	NM_058246.4(DNAJB6):c.970G>T (p.Gly324Cys)	DNAJB6 (G209C +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 2066914	NM_058246.4(DNAJB6):c.692-13G>A	DNAJB6	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 2063600	NM_058246.4(DNAJB6):c.691+9C>A	DNAJB6 (Q234K)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
Select item 2056535	NM_058246.4(DNAJB6):c.620+16G>C	DNAJB6	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
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 2051374	NM_058246.4(DNAJB6):c.640G>C (p.Glu214Gln)	DNAJB6 (E214Q)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) +1 more	GUncertain significance
Select item 2039352	NM_058246.4(DNAJB6):c.772C>T (p.Arg258Cys)	DNAJB6 (R258C +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GUncertain significance
Select item 2037012	NM_058246.4(DNAJB6):c.691+18C>T	DNAJB6 (R237C)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GLikely benign
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 2028919	NM_058246.4(DNAJB6):c.65+12del	DNAJB6	Deletion (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	GBenign

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