DNAJC13[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 305

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 154720	GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1	LOC129937518, LOC129937519 +248 more	Copy number loss	See cases	GLikely pathogenic
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 more	Copy number loss	See cases	GPathogenic
Select item 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	A4GNT, ACAD11 +345 more	Copy number loss	See cases	GPathogenic
Select item 150380	GRCh38/hg38 3q22.1-23(chr3:130401265-139005019)x1	A4GNT, ACAD11 +212 more	Copy number loss	See cases	GPathogenic
Select item 1286197	NM_015268.4(DNAJC13):c.-13-317dup	DNAJC13	Duplication (intron variant)	not provided	GBenign
Select item 1265743	NM_015268.4(DNAJC13):c.-13-266G>C	DNAJC13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265563	NM_015268.4(DNAJC13):c.-13-249C>G	DNAJC13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230766	NM_015268.4(DNAJC13):c.-13-206_-13-194del	DNAJC13	Deletion (intron variant)	not provided	GBenign
Select item 1283119	NM_015268.4(DNAJC13):c.-13-140dup	DNAJC13	Duplication (intron variant)	not provided	GBenign
Select item 1293955	NM_015268.4(DNAJC13):c.-13-49_-13-48insAG	DNAJC13	Insertion (intron variant)	not provided	GBenign
Select item 2372161	NM_015268.4(DNAJC13):c.20A>G (p.Asn7Ser)	DNAJC13 (N7S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1245418	NM_015268.4(DNAJC13):c.68+150A>G	DNAJC13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263992	NM_015268.4(DNAJC13):c.69-264T>A	DNAJC13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230045	NM_015268.4(DNAJC13):c.69-141A>T	DNAJC13	Single nucleotide variant (intron variant)	not provided	GBenign
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 2330384	NM_015268.4(DNAJC13):c.99T>A (p.His33Gln)	DNAJC13 (H33Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276723	NM_015268.4(DNAJC13):c.101C>T (p.Ala34Val)	DNAJC13 (A34V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747153	NM_015268.4(DNAJC13):c.108T>C (p.Thr36=)	DNAJC13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1249398	NM_015268.4(DNAJC13):c.144+209del	DNAJC13	Deletion (intron variant)	not provided	GBenign
Select item 1251735	NM_015268.4(DNAJC13):c.145-160A>G	DNAJC13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2226729	NM_015268.4(DNAJC13):c.152A>G (p.Tyr51Cys)	DNAJC13 (Y51C)	Single nucleotide variant (missense variant)	not specified	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 2634387	NM_015268.4(DNAJC13):c.197C>T (p.Thr66Met)	DNAJC13 (T66M)	Single nucleotide variant (missense variant)	DNAJC13-related disorder	GUncertain significance
Select item 2266376	NM_015268.4(DNAJC13):c.217C>T (p.Arg73Cys)	DNAJC13 (R73C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249442	NM_015268.4(DNAJC13):c.217C>G (p.Arg73Gly)	DNAJC13 (R73G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1210107	NM_015268.4(DNAJC13):c.246T>G (p.Thr82=)	DNAJC13	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 1210070	NM_015268.4(DNAJC13):c.282T>G (p.Leu94=)	DNAJC13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2365980	NM_015268.4(DNAJC13):c.289G>A (p.Ala97Thr)	DNAJC13 (A97T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1293993	NM_015268.4(DNAJC13):c.294+167C>T	DNAJC13	Single nucleotide variant (intron variant)	not provided	GBenign
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 1258123	NM_015268.4(DNAJC13):c.336+111G>A	DNAJC13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293951	NM_015268.4(DNAJC13):c.336+232C>T	DNAJC13	Single nucleotide variant (intron variant)	not provided	GBenign
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 2508469	NM_015268.4(DNAJC13):c.422A>T (p.Asn141Ile)	DNAJC13 (N141I)	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 3084472	NM_015268.4(DNAJC13):c.467T>C (p.Ile156Thr)	DNAJC13 (I156T)	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 3273073	NM_015268.4(DNAJC13):c.511A>G (p.Ile171Val)	DNAJC13 (I171V)	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 1283403	NM_015268.4(DNAJC13):c.537+26dup	DNAJC13	Duplication (intron variant)	not provided	GBenign
Select item 1272004	NM_015268.4(DNAJC13):c.537+14T>A	DNAJC13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286886	NM_015268.4(DNAJC13):c.538-34A>T	DNAJC13	Single nucleotide variant (intron variant)	not provided	GBenign
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 3273068	NM_015268.4(DNAJC13):c.604A>G (p.Ile202Val)	DNAJC13 (I202V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 760600	NM_015268.4(DNAJC13):c.654T>C (p.Tyr218=)	DNAJC13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3084479	NM_015268.4(DNAJC13):c.715G>T (p.Val239Leu)	DNAJC13 (V239L)	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 2540117	NM_015268.4(DNAJC13):c.730T>A (p.Ser244Thr)	DNAJC13 (S244T)	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 1183713	NM_015268.4(DNAJC13):c.744+47C>T	DNAJC13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3350334	NM_015268.4(DNAJC13):c.745-5dup	DNAJC13	Duplication (intron variant)	DNAJC13-related disorder	GBenign
Select item 2266880	NM_015268.4(DNAJC13):c.784T>G (p.Leu262Val)	DNAJC13 (L262V)	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 2621268	NM_015268.4(DNAJC13):c.829C>T (p.Pro277Ser)	DNAJC13 (P277S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255755	NM_015268.4(DNAJC13):c.857G>A (p.Cys286Tyr)	DNAJC13 (C286Y)	Single nucleotide variant (missense variant)	not specified	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 3084482	NM_015268.4(DNAJC13):c.914A>G (p.Lys305Arg)	DNAJC13 (K305R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780031	NM_015268.4(DNAJC13):c.932+15_932+16del	DNAJC13	Deletion (intron variant)	not provided	GBenign
Select item 767932	NM_015268.4(DNAJC13):c.932+16del	DNAJC13	Deletion (intron variant)	not provided	GBenign
Select item 1263155	NM_015268.4(DNAJC13):c.932+280G>A	DNAJC13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252150	NM_015268.4(DNAJC13):c.933-320A>G	DNAJC13	Single nucleotide variant (intron variant)	not provided	GBenign
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 1301529	NM_015268.4(DNAJC13):c.1036C>G (p.Leu346Val)	DNAJC13 (L346V)	Single nucleotide variant (missense variant)	Vascular dementia	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 374772	NM_015268.4(DNAJC13):c.1059A>G (p.Glu353=)	DNAJC13	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
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 3045368	NM_015268.4(DNAJC13):c.1173A>T (p.Thr391=)	DNAJC13	Single nucleotide variant (synonymous variant)	DNAJC13-related disorder	GLikely benign
Select item 2310679	NM_015268.4(DNAJC13):c.1226C>G (p.Thr409Arg)	DNAJC13 (T409R)	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 2336064	NM_015268.4(DNAJC13):c.1268C>T (p.Ala423Val)	DNAJC13 (A423V)	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 3273069	NM_015268.4(DNAJC13):c.1345C>G (p.Pro449Ala)	DNAJC13 (P449A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1273243	NM_015268.4(DNAJC13):c.1349+102C>T	DNAJC13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237746	NM_015268.4(DNAJC13):c.1349+103C>A	DNAJC13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2210422	NM_015268.4(DNAJC13):c.1361G>A (p.Arg454His)	DNAJC13 (R454H)	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 1182502	NM_015268.4(DNAJC13):c.1449+45C>G	DNAJC13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293950	NM_015268.4(DNAJC13):c.1449+98G>C	DNAJC13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249456	NM_015268.4(DNAJC13):c.1449+179C>T	DNAJC13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 767933	NM_015268.4(DNAJC13):c.1450-9dup	DNAJC13	Duplication (intron variant)	not provided	GBenign
Select item 1240697	NM_015268.4(DNAJC13):c.1557+34T>C	DNAJC13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256917	NM_015268.4(DNAJC13):c.1557+194T>C	DNAJC13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276998	NM_015268.4(DNAJC13):c.1558-243C>T	DNAJC13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234786	NM_015268.4(DNAJC13):c.1558-207_1558-199del	DNAJC13	Deletion (intron variant)	not provided	GBenign
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 1270351	NM_015268.4(DNAJC13):c.1770+127T>G	DNAJC13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276325	NM_015268.4(DNAJC13):c.1770+285T>C	DNAJC13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249225	NM_015268.4(DNAJC13):c.1771-96del	DNAJC13	Deletion (intron variant)	not provided	GBenign
Select item 2398669	NM_015268.4(DNAJC13):c.1831C>A (p.Pro611Thr)	DNAJC13 (P611T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1293944	NM_015268.4(DNAJC13):c.1892+257A>G	DNAJC13	Single nucleotide variant (intron variant)	not provided	GBenign
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 2475858	NM_015268.4(DNAJC13):c.1952T>G (p.Leu651Trp)	DNAJC13 (L651W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241412	NM_015268.4(DNAJC13):c.2008G>A (p.Val670Ile)	DNAJC13 (V670I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2391537	NM_015268.4(DNAJC13):c.2062A>G (p.Met688Val)	DNAJC13 (M688V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

<< First< Prev

Page of 4