"GeneDx"[submitter] AND "DNAJB13"[gene] - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	See cases	GPathogenic
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 152835	GRCh38/hg38 11q13.4(chr11:73859172-73977160)x3	COA4, DNAJB13 +11 more	Copy number gain	See cases	GUncertain significance
Select item 1280578	NC_000011.10:g.73950206G>A	DNAJB13	Single nucleotide variant	not provided	GBenign
Select item 1317020	NC_000011.10:g.73950210C>T	DNAJB13	Single nucleotide variant	not provided	GLikely benign
Select item 1225354	NC_000011.10:g.73950411C>T	DNAJB13	Single nucleotide variant	not provided	GBenign
Select item 1236519	NC_000011.10:g.73950645A>T	DNAJB13	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1259546	NC_000011.10:g.73950858G>C	DNAJB13	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1318084	NC_000011.10:g.73950863C>T	DNAJB13	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 1317548	NM_153614.4(DNAJB13):c.-16T>G	DNAJB13	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 3084391	NM_153614.4(DNAJB13):c.40A>G (p.Asn14Asp)	DNAJB13 (N14D)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1280806	NM_153614.4(DNAJB13):c.68+91C>T	DNAJB13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247658	NM_153614.4(DNAJB13):c.68+181A>G	DNAJB13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235737	NM_153614.4(DNAJB13):c.69-317G>C	DNAJB13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259292	NM_153614.4(DNAJB13):c.69-52C>A	DNAJB13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271046	NM_153614.4(DNAJB13):c.69-28A>C	DNAJB13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317021	NM_153614.4(DNAJB13):c.172+287G>A	DNAJB13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316988	NM_153614.4(DNAJB13):c.173-165del	DNAJB13	Deletion (intron variant)	not provided	GLikely benign
Select item 1260462	NM_153614.4(DNAJB13):c.173-106G>C	DNAJB13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255518	NM_153614.4(DNAJB13):c.279T>C (p.His93=)	DNAJB13	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1287900	NM_153614.4(DNAJB13):c.334+95_334+99del	DNAJB13	Deletion (intron variant)	not provided	GBenign
Select item 1269074	NM_153614.4(DNAJB13):c.334+96TTATT[2]	DNAJB13	Microsatellite (intron variant)	not provided	GBenign
Select item 1253780	NM_153614.4(DNAJB13):c.334+277T>G	DNAJB13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246383	NM_153614.4(DNAJB13):c.335-289G>T	DNAJB13, LOC130006402	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291796	NM_153614.4(DNAJB13):c.335-112TG[21]	DNAJB13, LOC130006403	Microsatellite (intron variant)	not provided	GBenign
Select item 1280031	NM_153614.4(DNAJB13):c.335-112TG[22]	DNAJB13, LOC130006403	Microsatellite (intron variant)	not provided	GBenign
Select item 1276555	NM_153614.4(DNAJB13):c.335-112TG[18]	DNAJB13, LOC130006403	Microsatellite (intron variant)	not provided	GBenign
Select item 1250535	NM_153614.4(DNAJB13):c.335-112TG[19]	DNAJB13, LOC130006403	Microsatellite (intron variant)	not provided	GBenign
Select item 1238091	NM_153614.4(DNAJB13):c.335-112TG[20]	DNAJB13, LOC130006403	Microsatellite (intron variant)	not provided	GBenign
Select item 1237923	NM_153614.4(DNAJB13):c.335-112TG[23]	DNAJB13, LOC130006403	Microsatellite (intron variant)	not provided	GBenign
Select item 1317835	NM_153614.4(DNAJB13):c.335-76T>C	DNAJB13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1260911	NM_153614.4(DNAJB13):c.335-74T>C	DNAJB13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235959	NM_153614.4(DNAJB13):c.335-72T>C	DNAJB13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3340976	NM_153614.4(DNAJB13):c.335-69_335-68insCGCG	DNAJB13	Insertion (intron variant)	not provided	GLikely benign
Select item 1229049	NM_153614.4(DNAJB13):c.335-70T>C	DNAJB13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317716	NM_153614.4(DNAJB13):c.335-68_335-63del	DNAJB13	Deletion (intron variant)	not provided	GLikely benign
Select item 1265909	NM_153614.4(DNAJB13):c.335-68T>C	DNAJB13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1723089	NM_153614.4(DNAJB13):c.335-65GC[7]	DNAJB13	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1278867	NM_153614.4(DNAJB13):c.335-66T>C	DNAJB13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246535	NM_153614.4(DNAJB13):c.335-65GC[5]	DNAJB13	Microsatellite (intron variant)	not provided	GBenign
Select item 1271365	NM_153614.4(DNAJB13):c.335-64C>T	DNAJB13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1320557	NM_153614.4(DNAJB13):c.335-54_335-53insCCCCGCGCGCGC	DNAJB13	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1291624	NM_153614.4(DNAJB13):c.335-60_335-59insCCGC	DNAJB13	Insertion (intron variant)	not provided	GBenign
Select item 1242584	NM_153614.4(DNAJB13):c.335-60_335-59insCCCCGC	DNAJB13	Insertion (intron variant)	not provided	GBenign
Select item 1237587	NM_153614.4(DNAJB13):c.335-56_335-55insCCCCGCGCGC	DNAJB13	Microsatellite (intron variant)	not provided	GBenign
Select item 1178786	NM_153614.4(DNAJB13):c.335-58_335-57insCCCCGCGC	DNAJB13	Microsatellite (intron variant)	not provided	GBenign
Select item 1174376	NM_153614.4(DNAJB13):c.335-62_335-61insCC	DNAJB13	Insertion (intron variant)	not provided	GBenign
Select item 2430878	NM_153614.4(DNAJB13):c.335-60C>T	DNAJB13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1286739	NM_153614.4(DNAJB13):c.492+71C>G	DNAJB13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316859	NM_153614.4(DNAJB13):c.492+74G>C	DNAJB13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1241663	NM_153614.4(DNAJB13):c.492+211dup	DNAJB13	Duplication (intron variant)	not provided	GBenign
Select item 1275502	NM_153614.4(DNAJB13):c.606+249G>A	DNAJB13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249690	NM_153614.4(DNAJB13):c.606+292G>A	DNAJB13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252610	NM_153614.4(DNAJB13):c.607-171G>C	DNAJB13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279838	NM_153614.4(DNAJB13):c.607-158A>G	DNAJB13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225202	NM_153614.4(DNAJB13):c.720+129T>C	DNAJB13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234739	NM_153614.4(DNAJB13):c.720+152G>A	DNAJB13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251808	NM_153614.4(DNAJB13):c.720+334T>A	DNAJB13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277972	NM_153614.4(DNAJB13):c.721-285C>T	DNAJB13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264696	NM_153614.4(DNAJB13):c.721-240C>T	DNAJB13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231202	NM_153614.4(DNAJB13):c.721-228G>A	DNAJB13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316232	NM_153614.4(DNAJB13):c.721-205A>T	DNAJB13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1223953	NM_153614.4(DNAJB13):c.721-163T>G	DNAJB13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262066	NM_153614.4(DNAJB13):c.797+259T>C	DNAJB13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275868	NM_153614.4(DNAJB13):c.797+260G>A	DNAJB13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182476	NM_153614.4(DNAJB13):c.798-256C>T	DNAJB13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174275	NM_153614.4(DNAJB13):c.798-230C>T	DNAJB13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242160	NM_153614.4(DNAJB13):c.798-212_798-209del	DNAJB13	Deletion (intron variant)	not provided	GBenign
Select item 1253105	NM_153614.4(DNAJB13):c.882C>T (p.Phe294=)	DNAJB13	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1406487	NM_153614.4(DNAJB13):c.901C>T (p.Arg301Cys)	DNAJB13 (R243C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1257063	NM_153614.4(DNAJB13):c.927G>A (p.Met309Ile)	DNAJB13 (M251I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1259594	NC_000011.10:g.73970302T>C	DNAJB13, LOC130006404	Single nucleotide variant	not provided	GBenign

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Items: 72