"GeneDx"[submitter] AND "DNAJC5"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066376, LOC130066377 +464 more	Copy number gain	See cases	GPathogenic
Select item 339350	NM_025219.3(DNAJC5):c.-140GCC[8]	DNAJC5, LOC130066405	Microsatellite (5 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive +1 more	GBenign
Select item 418748	NM_025219.3(DNAJC5):c.-59CGGAGCCG[3]	DNAJC5	Microsatellite (5 prime UTR variant)	not specified	GLikely benign
Select item 384761	NM_025219.3(DNAJC5):c.-45C>G	DNAJC5	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 516418	NM_025219.3(DNAJC5):c.-35GCGG[5]	DNAJC5	Microsatellite (5 prime UTR variant)	not specified	GLikely benign
Select item 420557	NM_025219.3(DNAJC5):c.-21_-14del	DNAJC5	Deletion (5 prime UTR variant)	not specified	GLikely benign
Select item 449701	NM_025219.3(DNAJC5):c.-12+1_-12+28del	DNAJC5	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 384174	NM_025219.3(DNAJC5):c.-12+12G>T	DNAJC5	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 379279	NM_025219.3(DNAJC5):c.-12+20G>A	DNAJC5	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1228738	NM_025219.3(DNAJC5):c.-12+43G>A	DNAJC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202208	NM_025219.3(DNAJC5):c.-12+125G>C	DNAJC5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 509567	NM_025219.3(DNAJC5):c.-11-9T>C	DNAJC5	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 978128	NM_025219.3(DNAJC5):c.-11-2A>G	DNAJC5	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1699575	NM_025219.3(DNAJC5):c.8A>G (p.Asp3Gly)	DNAJC5 (D3G)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 510563	NM_025219.3(DNAJC5):c.12G>A (p.Gln4=)	DNAJC5	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 205369	NM_025219.3(DNAJC5):c.31A>G (p.Thr11Ala)	DNAJC5 (T11A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 205364	NM_025219.3(DNAJC5):c.45A>G (p.Ser15=)	DNAJC5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 205370	NM_025219.3(DNAJC5):c.58C>T (p.Leu20Phe)	DNAJC5 (L20F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 390639	NM_025219.3(DNAJC5):c.66G>A (p.Leu22=)	DNAJC5	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 290991	NM_025219.3(DNAJC5):c.75C>T (p.Asn25=)	DNAJC5	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 508874	NM_025219.3(DNAJC5):c.87T>C (p.Asp29=)	DNAJC5	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1314672	NM_025219.3(DNAJC5):c.106C>T (p.Arg36Trp)	DNAJC5 (R36W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 205365	NM_025219.3(DNAJC5):c.107+10C>T	DNAJC5	Single nucleotide variant (intron variant)	Neuronal Ceroid-Lipofuscinosis, Recessive +4 more	GBenign/Likely benign
Select item 205371	NM_025219.3(DNAJC5):c.107+12A>G	DNAJC5	Single nucleotide variant (intron variant)	Neuronal Ceroid-Lipofuscinosis, Recessive +3 more	GBenign/Likely benign
Select item 675162	NM_025219.3(DNAJC5):c.107+115G>A	DNAJC5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679297	NM_025219.3(DNAJC5):c.107+159G>A	DNAJC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669806	NM_025219.3(DNAJC5):c.108-266C>T	DNAJC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259102	NM_025219.3(DNAJC5):c.108-157C>T	DNAJC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674475	NM_025219.3(DNAJC5):c.108-64C>T	DNAJC5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198474	NM_025219.3(DNAJC5):c.108-62C>T	DNAJC5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675163	NM_025219.3(DNAJC5):c.108-61G>A	DNAJC5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 205372	NM_025219.3(DNAJC5):c.108-6T>G	DNAJC5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 205377	NM_025219.3(DNAJC5):c.108-3C>T	DNAJC5	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 205366	NM_025219.3(DNAJC5):c.132C>T (p.Pro44=)	DNAJC5	Single nucleotide variant (synonymous variant)	DNAJC5-related condition +5 more	GBenign/Likely benign
Select item 196527	NM_025219.3(DNAJC5):c.144C>T (p.Pro48=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal Ceroid-Lipofuscinosis, Recessive +5 more	GBenign
Select item 205367	NM_025219.3(DNAJC5):c.153G>T (p.Pro51=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +3 more	GConflicting classifications of pathogenicity
Select item 205373	NM_025219.3(DNAJC5):c.187G>A (p.Ala63Thr)	DNAJC5 (A63T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 558992	NM_025219.3(DNAJC5):c.188C>T (p.Ala63Val)	DNAJC5 (A63V)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 390170	NM_025219.3(DNAJC5):c.189G>A (p.Ala63=)	DNAJC5	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 391141	NM_025219.3(DNAJC5):c.207C>T (p.Asp69=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +1 more	GLikely benign
Select item 241601	NM_025219.3(DNAJC5):c.228C>T (p.Tyr76=)	DNAJC5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 429280	NM_025219.3(DNAJC5):c.229G>T (p.Asp77Tyr)	DNAJC5 (D77Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 391894	NM_025219.3(DNAJC5):c.237C>T (p.Tyr79=)	DNAJC5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 384180	NM_025219.3(DNAJC5):c.255C>T (p.Tyr85=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +1 more	GLikely benign
Select item 377781	NM_025219.3(DNAJC5):c.282C>T (p.Asn94=)	DNAJC5	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 387879	NM_025219.3(DNAJC5):c.321+9G>A	DNAJC5	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 381508	NM_025219.3(DNAJC5):c.321+14G>A	DNAJC5	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis +1 more	GLikely benign
Select item 137123	NM_025219.3(DNAJC5):c.321+20C>T	DNAJC5	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis +1 more	GBenign
Select item 670729	NM_025219.3(DNAJC5):c.321+73G>A	DNAJC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269925	NM_025219.3(DNAJC5):c.321+116T>A	DNAJC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191265	NM_025219.3(DNAJC5):c.321+158_321+159insGCCCG	DNAJC5	Insertion (intron variant)	not provided	GLikely benign
Select item 1254283	NM_025219.3(DNAJC5):c.321+180_321+181insAGGCGCCCGAGTCACTCCTGCCGTGC	DNAJC5	Insertion (intron variant)	not provided	GLikely benign
Select item 1231687	NM_025219.3(DNAJC5):c.321+185_321+210dup	DNAJC5	Duplication (intron variant)	not provided	GBenign
Select item 1227214	NM_025219.3(DNAJC5):c.321+159_321+160insGTCACTCCTGCCGTGCGGGCG	DNAJC5	Insertion (intron variant)	not provided	GBenign
Select item 670364	NM_025219.3(DNAJC5):c.321+159A>G	DNAJC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196432	NM_025219.3(DNAJC5):c.321+160_321+203del	DNAJC5	Deletion (intron variant)	not provided	GLikely benign
Select item 1197490	NM_025219.3(DNAJC5):c.321+210_321+211insGCCCG	DNAJC5	Insertion (intron variant)	not provided	GLikely benign
Select item 1216331	NM_025219.3(DNAJC5):c.321+211_321+212insGTCACTCCTGCCGTGCGGGCG	DNAJC5	Insertion (intron variant)	not provided	GLikely benign
Select item 1208544	NM_025219.3(DNAJC5):c.321+211A>G	DNAJC5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1238753	NM_025219.3(DNAJC5):c.321+240C>T	DNAJC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670886	NM_025219.3(DNAJC5):c.322-35G>A	DNAJC5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 137124	NM_025219.3(DNAJC5):c.322-10C>T	DNAJC5	Single nucleotide variant (intron variant)	Neuronal Ceroid-Lipofuscinosis, Recessive +3 more	GBenign
Select item 379586	NM_025219.3(DNAJC5):c.322-5C>A	DNAJC5	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 383229	NM_025219.3(DNAJC5):c.324C>G (p.Ala108=)	DNAJC5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 30894	NM_025219.3(DNAJC5):c.344T>G (p.Leu115Arg)	DNAJC5 (L115R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 511547	NM_025219.3(DNAJC5):c.351G>A (p.Thr117=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +1 more	GLikely benign
Select item 1699578	NM_025219.3(DNAJC5):c.372_398dup (p.Cys133_Gly134insLeuCysCysCysPheAsnCysCysCys)	DNAJC5	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 205374	NM_025219.3(DNAJC5):c.419C>T (p.Ala140Val)	DNAJC5 (A140V)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1153546	NM_025219.3(DNAJC5):c.420G>T (p.Ala140=)	DNAJC5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 527768	NM_025219.3(DNAJC5):c.420G>A (p.Ala140=)	DNAJC5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 853282	NM_025219.3(DNAJC5):c.429C>T (p.Gly143=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +1 more	GConflicting classifications of pathogenicity
Select item 2444840	NM_025219.3(DNAJC5):c.436A>G (p.Thr146Ala)	DNAJC5 (T146A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 339358	NM_025219.3(DNAJC5):c.444C>T (p.Phe148=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal Ceroid-Lipofuscinosis, Recessive +3 more	GConflicting classifications of pathogenicity
Select item 590040	NM_025219.3(DNAJC5):c.447C>T (p.Tyr149=)	DNAJC5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1878735	NM_025219.3(DNAJC5):c.448G>T (p.Val150Leu)	DNAJC5 (V150L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 432374	NM_025219.3(DNAJC5):c.448G>A (p.Val150Met)	DNAJC5 (V150M)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 205375	NM_025219.3(DNAJC5):c.448G>C (p.Val150Leu)	DNAJC5 (V150L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 511565	NM_025219.3(DNAJC5):c.450G>T (p.Val150=)	DNAJC5	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 205368	NM_025219.3(DNAJC5):c.456C>T (p.Pro152=)	DNAJC5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1312155	NM_025219.3(DNAJC5):c.457G>A (p.Glu153Lys)	DNAJC5 (E153K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 205376	NM_025219.3(DNAJC5):c.491G>A (p.Arg164Lys)	DNAJC5 (R164K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 558993	NM_025219.3(DNAJC5):c.493+22C>T	DNAJC5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 377782	NM_025219.3(DNAJC5):c.494-18T>C	DNAJC5	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1252102	NM_025219.3(DNAJC5):c.494-17G>A	DNAJC5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 384526	NM_025219.3(DNAJC5):c.494-16T>C	DNAJC5	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 137125	NM_025219.3(DNAJC5):c.501A>G (p.Thr167=)	DNAJC5	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 582216	NM_025219.3(DNAJC5):c.509C>T (p.Pro170Leu)	DNAJC5 (P170L)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 431814	NM_025219.3(DNAJC5):c.524C>T (p.Pro175Leu)	DNAJC5 (P175L)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 809276	NM_025219.3(DNAJC5):c.527C>T (p.Ala176Val)	DNAJC5 (A176V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 509239	NM_025219.3(DNAJC5):c.531C>T (p.Ser177=)	DNAJC5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 413345	NM_025219.3(DNAJC5):c.561C>T (p.Asp187=)	DNAJC5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 2159688	NM_025219.3(DNAJC5):c.563C>T (p.Ser188Phe)	DNAJC5 (S188F)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 1308300	NM_025219.3(DNAJC5):c.586G>A (p.Gly196Arg)	DNAJC5 (G196R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 377783	NM_025219.3(DNAJC5):c.*13C>G	DNAJC5	Single nucleotide variant (3 prime UTR variant)	not specified	GBenign
Select item 389305	NM_025219.3(DNAJC5):c.*18G>A	DNAJC5	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 339380	NM_025219.3(DNAJC5):c.*1106T>G	DNAJC5	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 1526310	NM_025219.3(DNAJC5):c.1197_1249del	DNAJC5	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 339385	NM_025219.3(DNAJC5):c.*1235C>T	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive +2 more	GBenign/Likely benign
Select item 339386	NM_025219.3(DNAJC5):c.*1303C>T	DNAJC5	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 339389	NM_025219.3(DNAJC5):c.*1364C>T	DNAJC5	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign

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