ClinVar for Gene (Select 23317) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3355732	NM_015268.4(DNAJC13):c.5516C>T (p.Ala1839Val)	DNAJC13 (A1839V +1 more)	Single nucleotide variant (missense variant)	DNAJC13-related disorder	GUncertain significance
Select item 3350921	NM_015268.4(DNAJC13):c.548C>T (p.Ala183Val)	DNAJC13 (A183V)	Single nucleotide variant (missense variant)	DNAJC13-related disorder	GUncertain significance
Select item 3350714	NM_015268.4(DNAJC13):c.*10G>A	DNAJC13	Single nucleotide variant (3 prime UTR variant)	DNAJC13-related disorder	GBenign
Select item 3350334	NM_015268.4(DNAJC13):c.745-5dup	DNAJC13	Duplication (intron variant)	DNAJC13-related disorder	GBenign
Select item 3348882	NM_015268.4(DNAJC13):c.2021A>C (p.Asp674Ala)	DNAJC13 (D674A)	Single nucleotide variant (missense variant)	DNAJC13-related disorder	GLikely benign
Select item 3346989	NM_015268.4(DNAJC13):c.3248G>C (p.Cys1083Ser)	DNAJC13 (C1083S +1 more)	Single nucleotide variant (missense variant)	DNAJC13-related disorder	GUncertain significance
Select item 3273092	NM_015268.4(DNAJC13):c.3205C>T (p.Arg1069Trp)	DNAJC13 (R1074W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273091	NM_015268.4(DNAJC13):c.664C>T (p.Arg222Cys)	DNAJC13 (R222C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273090	NM_015268.4(DNAJC13):c.3067A>G (p.Ile1023Val)	DNAJC13 (I1023V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273089	NM_015268.4(DNAJC13):c.6712G>C (p.Asp2238His)	DNAJC13 (D2238H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273088	NM_015268.4(DNAJC13):c.4990A>T (p.Ile1664Phe)	DNAJC13 (I1664F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273087	NM_015268.4(DNAJC13):c.4549G>T (p.Val1517Leu)	DNAJC13 (V1522L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273086	NM_015268.4(DNAJC13):c.4661A>T (p.Tyr1554Phe)	DNAJC13 (Y1554F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273085	NM_015268.4(DNAJC13):c.1671G>T (p.Glu557Asp)	DNAJC13 (E557D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273084	NM_015268.4(DNAJC13):c.2762T>C (p.Ile921Thr)	DNAJC13 (I926T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273081	NM_015268.4(DNAJC13):c.4900A>G (p.Asn1634Asp)	DNAJC13 (N1639D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273080	NM_015268.4(DNAJC13):c.3125A>G (p.Asp1042Gly)	DNAJC13 (D1047G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273079	NM_015268.4(DNAJC13):c.2237G>A (p.Arg746Gln)	DNAJC13 (R751Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273078	NM_015268.4(DNAJC13):c.5003A>T (p.Asp1668Val)	DNAJC13 (D1673V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273077	NM_015268.4(DNAJC13):c.6109G>A (p.Ala2037Thr)	DNAJC13 (A2042T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273076	NM_015268.4(DNAJC13):c.1936G>T (p.Ala646Ser)	DNAJC13 (A646S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273075	NM_015268.4(DNAJC13):c.5908G>A (p.Val1970Met)	DNAJC13 (V1975M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273074	NM_015268.4(DNAJC13):c.6137C>T (p.Pro2046Leu)	DNAJC13 (P2046L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273073	NM_015268.4(DNAJC13):c.511A>G (p.Ile171Val)	DNAJC13 (I171V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273072	NM_015268.4(DNAJC13):c.2172G>A (p.Met724Ile)	DNAJC13 (M724I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273070	NM_015268.4(DNAJC13):c.2922G>T (p.Lys974Asn)	DNAJC13 (K974N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273069	NM_015268.4(DNAJC13):c.1345C>G (p.Pro449Ala)	DNAJC13 (P449A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273068	NM_015268.4(DNAJC13):c.604A>G (p.Ile202Val)	DNAJC13 (I202V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273067	NM_015268.4(DNAJC13):c.1376T>C (p.Val459Ala)	DNAJC13 (V459A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084482	NM_015268.4(DNAJC13):c.914A>G (p.Lys305Arg)	DNAJC13 (K305R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084481	NM_015268.4(DNAJC13):c.788T>C (p.Val263Ala)	DNAJC13 (V263A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084480	NM_015268.4(DNAJC13):c.718G>A (p.Val240Ile)	DNAJC13 (V240I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084479	NM_015268.4(DNAJC13):c.715G>T (p.Val239Leu)	DNAJC13 (V239L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084478	NM_015268.4(DNAJC13):c.6458C>T (p.Ala2153Val)	DNAJC13 (A2158V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084477	NM_015268.4(DNAJC13):c.6218T>C (p.Ile2073Thr)	DNAJC13 (I2073T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084476	NM_015268.4(DNAJC13):c.5722A>G (p.Met1908Val)	DNAJC13 (M1908V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084475	NM_015268.4(DNAJC13):c.5500C>G (p.Leu1834Val)	DNAJC13 (L1834V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084474	NM_015268.4(DNAJC13):c.536T>C (p.Leu179Ser)	DNAJC13 (L179S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084473	NM_015268.4(DNAJC13):c.472G>A (p.Gly158Arg)	DNAJC13 (G158R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084472	NM_015268.4(DNAJC13):c.467T>C (p.Ile156Thr)	DNAJC13 (I156T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084471	NM_015268.4(DNAJC13):c.460A>G (p.Arg154Gly)	DNAJC13 (R154G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084470	NM_015268.4(DNAJC13):c.4516C>T (p.Arg1506Trp)	DNAJC13 (R1506W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084469	NM_015268.4(DNAJC13):c.4514G>C (p.Cys1505Ser)	DNAJC13 (C1505S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084468	NM_015268.4(DNAJC13):c.4375G>A (p.Val1459Ile)	DNAJC13 (V1464I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084467	NM_015268.4(DNAJC13):c.4267A>G (p.Thr1423Ala)	DNAJC13 (T1428A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3084466	NM_015268.4(DNAJC13):c.4013A>G (p.Glu1338Gly)	DNAJC13 (E1343G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084465	NM_015268.4(DNAJC13):c.394G>T (p.Val132Leu)	DNAJC13 (V132L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084464	NM_015268.4(DNAJC13):c.3498T>A (p.Ser1166Arg)	DNAJC13 (S1166R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084463	NM_015268.4(DNAJC13):c.325A>G (p.Ile109Val)	DNAJC13 (I109V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084462	NM_015268.4(DNAJC13):c.2711G>A (p.Cys904Tyr)	DNAJC13 (C909Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084461	NM_015268.4(DNAJC13):c.259A>G (p.Thr87Ala)	DNAJC13 (T87A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084460	NM_015268.4(DNAJC13):c.2294T>C (p.Phe765Ser)	DNAJC13 (F765S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084459	NM_015268.4(DNAJC13):c.1270G>A (p.Glu424Lys)	DNAJC13 (E424K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084458	NM_015268.4(DNAJC13):c.1264A>G (p.Asn422Asp)	DNAJC13 (N422D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084457	NM_015268.4(DNAJC13):c.1042A>G (p.Met348Val)	DNAJC13 (M348V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084456	NM_015268.4(DNAJC13):c.1022A>T (p.Gln341Leu)	DNAJC13 (Q341L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060290	NM_015268.4(DNAJC13):c.2550-10dup	DNAJC13	Duplication (intron variant)	DNAJC13-related disorder	GLikely benign
Select item 3057582	NM_015268.4(DNAJC13):c.5202G>A (p.Ala1734=)	DNAJC13	Single nucleotide variant (synonymous variant)	DNAJC13-related disorder	GLikely benign
Select item 3055999	NM_015268.4(DNAJC13):c.4262C>T (p.Ala1421Val)	DNAJC13 (A1421V +1 more)	Single nucleotide variant (missense variant)	DNAJC13-related disorder	GBenign
Select item 3052589	NM_015268.4(DNAJC13):c.1080G>A (p.Arg360=)	DNAJC13	Single nucleotide variant (synonymous variant)	DNAJC13-related disorder	GLikely benign
Select item 3050646	NM_015268.4(DNAJC13):c.5349T>C (p.Val1783=)	DNAJC13	Single nucleotide variant (synonymous variant)	DNAJC13-related disorder	GLikely benign
Select item 3047504	NM_015268.4(DNAJC13):c.2773-4C>T	DNAJC13	Single nucleotide variant (intron variant)	DNAJC13-related disorder	GLikely benign
Select item 3046891	NM_015268.4(DNAJC13):c.3585A>G (p.Glu1195=)	DNAJC13	Single nucleotide variant (synonymous variant)	DNAJC13-related disorder	GLikely benign
Select item 3045368	NM_015268.4(DNAJC13):c.1173A>T (p.Thr391=)	DNAJC13	Single nucleotide variant (synonymous variant)	DNAJC13-related disorder	GLikely benign
Select item 3043678	NM_015268.4(DNAJC13):c.5646G>C (p.Met1882Ile)	DNAJC13 (M1882I +1 more)	Single nucleotide variant (missense variant)	DNAJC13-related disorder	GLikely benign
Select item 3039308	NM_015268.4(DNAJC13):c.4547G>A (p.Arg1516His)	DNAJC13 (R1516H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3036719	NM_015268.4(DNAJC13):c.5983G>A (p.Val1995Ile)	DNAJC13 (V1995I +1 more)	Single nucleotide variant (missense variant)	DNAJC13-related disorder	GUncertain significance
Select item 3033667	NM_015268.4(DNAJC13):c.873A>G (p.Pro291=)	DNAJC13	Single nucleotide variant (synonymous variant)	DNAJC13-related disorder	GLikely benign
Select item 3025003	NM_015268.4(DNAJC13):c.6240+4T>C	DNAJC13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2685933	GRCh37/hg19 3q22.1(chr3:132099645-132381259)x3	ACAD11, ACKR4 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2654159	NM_015268.4(DNAJC13):c.6509T>G (p.Leu2170Trp)	DNAJC13 (L2170W +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2654158	NM_015268.4(DNAJC13):c.6169G>T (p.Ala2057Ser)	DNAJC13 (A2057S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2654157	NM_015268.4(DNAJC13):c.6111A>G (p.Ala2037=)	DNAJC13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654156	NM_015268.4(DNAJC13):c.5081G>A (p.Arg1694Lys)	DNAJC13 (R1694K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2654155	NM_015268.4(DNAJC13):c.2940C>T (p.Asn980=)	DNAJC13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654154	NM_015268.4(DNAJC13):c.2708G>A (p.Arg903Lys)	DNAJC13 (R903K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2634387	NM_015268.4(DNAJC13):c.197C>T (p.Thr66Met)	DNAJC13 (T66M)	Single nucleotide variant (missense variant)	DNAJC13-related disorder	GUncertain significance
Select item 2631851	NM_015268.4(DNAJC13):c.98A>G (p.His33Arg)	DNAJC13 (H33R)	Single nucleotide variant (missense variant)	DNAJC13-related disorder	GUncertain significance
Select item 2628406	NM_015268.4(DNAJC13):c.5071A>G (p.Ile1691Val)	DNAJC13 (I1691V +1 more)	Single nucleotide variant (missense variant)	DNAJC13-related disorder	GUncertain significance
Select item 2621268	NM_015268.4(DNAJC13):c.829C>T (p.Pro277Ser)	DNAJC13 (P277S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613980	NM_015268.4(DNAJC13):c.2579G>A (p.Arg860His)	DNAJC13 (R865H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607086	NM_015268.4(DNAJC13):c.4599G>C (p.Trp1533Cys)	DNAJC13 (W1538C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605797	NM_015268.4(DNAJC13):c.5309G>A (p.Cys1770Tyr)	DNAJC13 (C1770Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598306	NM_015268.4(DNAJC13):c.4961A>C (p.Glu1654Ala)	DNAJC13 (E1654A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595002	NM_015268.4(DNAJC13):c.4414C>A (p.Gln1472Lys)	DNAJC13 (Q1472K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2578950	NM_015268.4(DNAJC13):c.2498G>A (p.Arg833Lys)	DNAJC13 (R833K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2557525	NM_015268.4(DNAJC13):c.160A>G (p.Ile54Val)	DNAJC13 (I54V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554753	NM_015268.4(DNAJC13):c.5457A>T (p.Leu1819Phe)	DNAJC13 (L1819F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545396	NM_015268.4(DNAJC13):c.2365G>C (p.Glu789Gln)	DNAJC13 (E794Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544840	NM_015268.4(DNAJC13):c.3337A>G (p.Asn1113Asp)	DNAJC13 (N1113D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541524	NM_015268.4(DNAJC13):c.5007T>G (p.Cys1669Trp)	DNAJC13 (C1674W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540192	NM_015268.4(DNAJC13):c.6133G>A (p.Val2045Ile)	DNAJC13 (V2050I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540117	NM_015268.4(DNAJC13):c.730T>A (p.Ser244Thr)	DNAJC13 (S244T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538319	NM_015268.4(DNAJC13):c.5153T>C (p.Ile1718Thr)	DNAJC13 (I1718T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533970	NM_015268.4(DNAJC13):c.730T>C (p.Ser244Pro)	DNAJC13 (S244P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532378	NM_015268.4(DNAJC13):c.2360C>T (p.Thr787Ile)	DNAJC13 (T787I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518294	NM_015268.4(DNAJC13):c.3761A>G (p.Asn1254Ser)	DNAJC13 (N1259S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508469	NM_015268.4(DNAJC13):c.422A>T (p.Asn141Ile)	DNAJC13 (N141I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490136	NM_015268.4(DNAJC13):c.5450C>T (p.Ser1817Phe)	DNAJC13 (S1817F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480666	NM_015268.4(DNAJC13):c.3206G>A (p.Arg1069Gln)	DNAJC13 (R1069Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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