ClinVar for Gene (Select 134218) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3273119	NM_001012339.3(DNAJC21):c.529A>G (p.Asn177Asp)	DNAJC21 (N177D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273118	NM_001012339.3(DNAJC21):c.1028C>A (p.Ala343Asp)	DNAJC21 (A343D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273117	NM_001012339.3(DNAJC21):c.427G>A (p.Asp143Asn)	DNAJC21 (D143N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148941	GRCh37/hg19 5p13.3-13.2(chr5:33684931-35652823)x1	ADAMTS12, AGXT2 +11 more	Copy number loss	See cases	GUncertain significance
Select item 3084547	NM_001012339.3(DNAJC21):c.671T>G (p.Val224Gly)	DNAJC21 (V224G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3084546	NM_001012339.3(DNAJC21):c.32G>T (p.Arg11Leu)	DNAJC21, LOC129993792 (R11L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3084545	NM_001012339.3(DNAJC21):c.1253A>G (p.Asn418Ser)	DNAJC21 (N463S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065635	NM_001012339.3(DNAJC21):c.381delinsCTAGTGT (p.Leu127delinsPheTer)	DNAJC21	Indel (nonsense)	Bone marrow failure syndrome 3	GPathogenic
Select item 3061595	NM_001012339.3(DNAJC21):c.1142+9A>G	DNAJC21	Single nucleotide variant (intron variant)	DNAJC21-related disorder	GLikely benign
Select item 3044397	NM_001012339.3(DNAJC21):c.1428A>G (p.Gln476=)	DNAJC21	Single nucleotide variant (synonymous variant)	DNAJC21-related disorder	GLikely benign
Select item 3037808	NM_001012339.3(DNAJC21):c.-7T>G	DNAJC21	Single nucleotide variant (5 prime UTR variant)	DNAJC21-related disorder	GLikely benign
Select item 3033920	NM_001012339.3(DNAJC21):c.1186-556G>A	DNAJC21	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 3020793	NM_001012339.3(DNAJC21):c.513T>C (p.Asp171=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011755	NM_001012339.3(DNAJC21):c.805C>T (p.Gln269Ter)	DNAJC21 (Q269*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3011195	NM_001012339.3(DNAJC21):c.743+19G>T	DNAJC21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005870	NM_001012339.3(DNAJC21):c.711G>A (p.Glu237=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001929	NM_001012339.3(DNAJC21):c.720G>T (p.Arg240=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993598	NM_001012339.3(DNAJC21):c.1536A>G (p.Ser512=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987375	NM_001012339.3(DNAJC21):c.870A>G (p.Glu290=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986127	NM_001012339.3(DNAJC21):c.348A>G (p.Glu116=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985674	NM_001012339.3(DNAJC21):c.1359-13A>G	DNAJC21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979537	NM_001012339.3(DNAJC21):c.1398A>G (p.Lys466=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974424	NM_001012339.3(DNAJC21):c.661C>T (p.Arg221Ter)	DNAJC21 (R221*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2959934	NM_001012339.3(DNAJC21):c.97+12T>A	DNAJC21, LOC129993792	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959780	NM_001012339.3(DNAJC21):c.1311C>G (p.Val437=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959649	NM_001012339.3(DNAJC21):c.1059A>G (p.Glu353=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901505	NM_001012339.3(DNAJC21):c.477C>T (p.Cys159=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900657	NM_001012339.3(DNAJC21):c.255C>T (p.Ser85=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891321	NM_001012339.3(DNAJC21):c.21G>T (p.Ala7=)	DNAJC21, LOC129993792	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2882549	NM_001012339.3(DNAJC21):c.6G>A (p.Lys2=)	DNAJC21, LOC129993792	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877493	NM_001012339.3(DNAJC21):c.1591A>C (p.Arg531=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869825	NM_001012339.3(DNAJC21):c.747G>T (p.Leu249=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2865980	NM_001012339.3(DNAJC21):c.744-8G>T	DNAJC21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2864141	NM_001012339.3(DNAJC21):c.191+18C>G	DNAJC21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2863285	NM_001012339.3(DNAJC21):c.747G>C (p.Leu249=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2854652	NM_001012339.3(DNAJC21):c.971A>G (p.Lys324Arg)	DNAJC21 (K324R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2853285	NM_001012339.3(DNAJC21):c.315+1G>T	DNAJC21	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2840038	NM_001012339.3(DNAJC21):c.57C>T (p.Leu19=)	DNAJC21, LOC129993792	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2839257	NM_001012339.3(DNAJC21):c.192-9G>C	DNAJC21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2839061	NM_001012339.3(DNAJC21):c.983+15T>C	DNAJC21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2823289	NM_001012339.3(DNAJC21):c.896-19G>A	DNAJC21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2818957	NM_001012339.3(DNAJC21):c.634A>G (p.Lys212Glu)	DNAJC21 (K212E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2816354	NM_001012339.3(DNAJC21):c.345del (p.Phe115fs)	DNAJC21 (F115fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2814896	NM_001012339.3(DNAJC21):c.905G>A (p.Ser302Asn)	DNAJC21 (S302N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2809444	NM_001012339.3(DNAJC21):c.1171C>T (p.Gln391Ter)	DNAJC21 (Q391* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2807142	NM_001012339.3(DNAJC21):c.15T>G (p.Tyr5Ter)	DNAJC21, LOC129993792 (Y5*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2806396	NM_001012339.3(DNAJC21):c.97+1G>T	DNAJC21, LOC129993792	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2797735	NM_001012339.3(DNAJC21):c.1026G>A (p.Val342=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2787515	NM_001012339.3(DNAJC21):c.690G>C (p.Glu230Asp)	DNAJC21 (E230D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2783979	NM_001012339.3(DNAJC21):c.1104C>A (p.Asp368Glu)	DNAJC21 (D368E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2769968	NM_001012339.3(DNAJC21):c.965C>A (p.Ser322Ter)	DNAJC21 (S322*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2765278	NM_001012339.3(DNAJC21):c.1595dup (p.Ter532=)	DNAJC21	Duplication (synonymous variant)	not provided	GLikely benign
Select item 2751121	NM_001012339.3(DNAJC21):c.648_649del (p.Arg216fs)	DNAJC21 (R216fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2749752	NM_001012339.3(DNAJC21):c.718C>T (p.Arg240Trp)	DNAJC21 (R240W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2710396	NM_001012339.3(DNAJC21):c.420C>T (p.Ser140=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2695074	NM_001012339.3(DNAJC21):c.98-13G>A	DNAJC21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2685139	GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1	ADAMTS12, ADAMTS16 +89 more	Copy number loss	not provided	GPathogenic
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 2655394	NM_001012339.3(DNAJC21):c.1143-31A>G	DNAJC21 (Y384C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 2655393	NM_001012339.3(DNAJC21):c.528A>G (p.Ser176=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2635017	NM_001012339.3(DNAJC21):c.434A>G (p.Asp145Gly)	DNAJC21 (D145G)	Single nucleotide variant (missense variant)	DNAJC21-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2631314	NM_001012339.3(DNAJC21):c.895+1G>A	DNAJC21	Single nucleotide variant (splice donor variant)	DNAJC21-related disorder +1 more	GLikely pathogenic
Select item 2585147	NM_001012339.3(DNAJC21):c.316-2A>C	DNAJC21	Single nucleotide variant (splice acceptor variant)	Bone marrow failure syndrome 3	GLikely pathogenic
Select item 2545610	NM_001012339.3(DNAJC21):c.1384A>G (p.Thr462Ala)	DNAJC21 (T462A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2536817	NM_001012339.3(DNAJC21):c.290A>T (p.Tyr97Phe)	DNAJC21 (Y97F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481418	NM_001012339.3(DNAJC21):c.1444A>G (p.Ile482Val)	DNAJC21 (I495V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2424399	NC_000005.9:g.(?_33944753)_(39364566_?)dup	FYB1, GDNF +32 more	Duplication	not provided	GUncertain significance
Select item 2423467	NC_000005.9:g.(?_34929925)_(34954819_?)dup	DNAJC21	Duplication	not provided	GUncertain significance
Select item 2419259	NM_001012339.3(DNAJC21):c.198T>C (p.Asp66=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2419237	NM_001012339.3(DNAJC21):c.1014T>C (p.His338=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2418486	NM_001012339.3(DNAJC21):c.1457C>A (p.Thr486Asn)	DNAJC21 (T486N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2417267	NM_001012339.3(DNAJC21):c.983+10TTAAT[3]	DNAJC21	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2338231	NM_001012339.3(DNAJC21):c.820C>T (p.Arg274Trp)	DNAJC21 (R274W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316561	NM_001012339.3(DNAJC21):c.1394T>G (p.Met465Arg)	DNAJC21 (M478R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315256	NM_001012339.3(DNAJC21):c.1186-563G>A	DNAJC21 (C417Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2313108	NM_001012339.3(DNAJC21):c.1372A>C (p.Lys458Gln)	DNAJC21 (K471Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223690	NM_001012339.3(DNAJC21):c.784G>A (p.Ala262Thr)	DNAJC21 (A262T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215909	NM_001012339.3(DNAJC21):c.203A>G (p.His68Arg)	DNAJC21 (H68R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2194452	NM_001012339.3(DNAJC21):c.327G>C (p.Thr109=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2186813	NM_001012339.3(DNAJC21):c.813G>A (p.Met271Ile)	DNAJC21 (M271I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2186567	NM_001012339.3(DNAJC21):c.97+4A>G	DNAJC21, LOC129993792	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2184111	NM_001012339.3(DNAJC21):c.1552G>A (p.Ala518Thr)	DNAJC21 (A531T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2181302	NM_001012339.3(DNAJC21):c.314del (p.Lys105fs)	DNAJC21 (K105fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2173441	NM_001012339.3(DNAJC21):c.1117G>A (p.Glu373Lys)	DNAJC21 (E373K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2169913	NM_001012339.3(DNAJC21):c.1592G>A (p.Arg531Lys)	DNAJC21 (R531K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2167486	NM_001012339.3(DNAJC21):c.555A>G (p.Glu185=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2159235	NM_001012339.3(DNAJC21):c.280G>A (p.Val94Ile)	DNAJC21 (V94I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2134692	NM_001012339.3(DNAJC21):c.1161G>A (p.Lys387=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2130042	NM_001012339.3(DNAJC21):c.1551C>T (p.Ser517=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2127972	NM_001012339.3(DNAJC21):c.815A>C (p.Glu272Ala)	DNAJC21 (E272A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2126132	NM_001012339.3(DNAJC21):c.439-2A>G	DNAJC21	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2119932	NM_001012339.3(DNAJC21):c.439-4C>A	DNAJC21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2114519	NM_001012339.3(DNAJC21):c.1217C>A (p.Pro406His)	DNAJC21 (P419H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2098740	NM_001012339.3(DNAJC21):c.1094C>T (p.Pro365Leu)	DNAJC21 (P365L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2094656	NM_001012339.3(DNAJC21):c.532C>T (p.Arg178Cys)	DNAJC21 (R178C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2094655	NM_001012339.3(DNAJC21):c.50A>T (p.Glu17Val)	DNAJC21, LOC129993792 (E17V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2093252	NM_001012339.3(DNAJC21):c.316-3dup	DNAJC21	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2091860	NM_001012339.3(DNAJC21):c.13T>G (p.Tyr5Asp)	DNAJC21, LOC129993792 (Y5D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2089930	NM_001012339.3(DNAJC21):c.1528C>T (p.Pro510Ser)	DNAJC21 (P510S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2088733	NM_001012339.3(DNAJC21):c.1155del (p.Lys385fs)	DNAJC21 (K385fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic

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