ClinVar for MedGen (Select 320287) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3587622	NM_025219.3(DNAJC5):c.97A>C (p.Lys33Gln)	DNAJC5 (K33Q)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	GUncertain significance
Select item 2440942	NM_025219.3(DNAJC5):c.482C>G (p.Ser161Cys)	DNAJC5 (S161C)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type) +1 more	GUncertain significance
Select item 2440941	NM_025219.3(DNAJC5):c.493+1dup	DNAJC5	Duplication (splice donor variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	GUncertain significance
Select item 1401106	NM_025219.3(DNAJC5):c.565C>T (p.His189Tyr)	DNAJC5 (H189Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1178346	NM_025219.3(DNAJC5):c.347T>G (p.Leu116Arg)	DNAJC5 (L116R)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	GPathogenic
Select item 978128	NM_025219.3(DNAJC5):c.-11-2A>G	DNAJC5	Single nucleotide variant (splice acceptor variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type) +1 more	GUncertain significance
Select item 899356	NM_025219.3(DNAJC5):c.*4036G>A	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	GUncertain significance
Select item 899293	NM_025219.3(DNAJC5):c.*2849A>G	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	GUncertain significance
Select item 899183	NM_025219.3(DNAJC5):c.*486G>A	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	GUncertain significance
Select item 899182	NM_025219.3(DNAJC5):c.*458G>A	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	GUncertain significance
Select item 899181	NM_025219.3(DNAJC5):c.*373G>A	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	GLikely benign
Select item 899180	NM_025219.3(DNAJC5):c.*298C>T	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	GUncertain significance
Select item 899122	NM_025219.3(DNAJC5):c.-12+15G>T	DNAJC5	Single nucleotide variant (intron variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	GUncertain significance
Select item 899121	NM_025219.3(DNAJC5):c.-12+11T>A	DNAJC5	Single nucleotide variant (intron variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	GUncertain significance
Select item 898247	NM_025219.3(DNAJC5):c.*3839G>A	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	GUncertain significance
Select item 898246	NM_025219.3(DNAJC5):c.*3608G>C	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	GUncertain significance
Select item 898245	NM_025219.3(DNAJC5):c.*3550C>T	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	GUncertain significance
Select item 898188	NM_025219.3(DNAJC5):c.*2633G>A	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	GUncertain significance
Select item 898187	NM_025219.3(DNAJC5):c.*2563A>C	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	GBenign
Select item 898186	NM_025219.3(DNAJC5):c.*2482G>C	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	GUncertain significance
Select item 898185	NM_025219.3(DNAJC5):c.*2385G>T	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	GUncertain significance
Select item 898062	NM_025219.3(DNAJC5):c.*274C>T	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	GUncertain significance
Select item 898061	NM_025219.3(DNAJC5):c.*177T>C	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	GUncertain significance
Select item 898060	NM_025219.3(DNAJC5):c.*158A>T	DNAJC5	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 896619	NM_025219.3(DNAJC5):c.*3224C>T	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	GUncertain significance
Select item 896618	NM_025219.3(DNAJC5):c.*3215C>G	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	GUncertain significance
Select item 896617	NM_025219.3(DNAJC5):c.*3213G>A	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	GUncertain significance
Select item 896559	NM_025219.3(DNAJC5):c.*2171G>A	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	GUncertain significance
Select item 896558	NM_025219.3(DNAJC5):c.*1936T>C	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	GBenign
Select item 896557	NM_025219.3(DNAJC5):c.*1934T>G	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	GUncertain significance
Select item 896556	NM_025219.3(DNAJC5):c.*1927G>A	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	GUncertain significance
Select item 896555	NM_025219.3(DNAJC5):c.*1915C>T	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	GUncertain significance
Select item 896508	NM_025219.3(DNAJC5):c.*948G>A	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	GUncertain significance
Select item 896507	NM_025219.3(DNAJC5):c.*944A>T	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	GUncertain significance
Select item 896434	NM_025219.3(DNAJC5):c.*66C>T	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	GUncertain significance
Select item 896433	NM_025219.3(DNAJC5):c.437C>T (p.Thr146Met)	DNAJC5 (T146M)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +2 more	GUncertain significance
Select item 896432	NM_025219.3(DNAJC5):c.162G>A (p.Ala54=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +1 more	GConflicting classifications of pathogenicity
Select item 895257	NM_025219.3(DNAJC5):c.*4375C>T	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	GUncertain significance
Select item 895256	NM_025219.3(DNAJC5):c.*4317G>A	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	GUncertain significance
Select item 895203	NM_025219.3(DNAJC5):c.*3184G>A	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	GUncertain significance
Select item 895202	NM_025219.3(DNAJC5):c.*2983C>T	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	GUncertain significance
Select item 895201	NM_025219.3(DNAJC5):c.*2980C>A	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	GUncertain significance
Select item 895129	NM_025219.3(DNAJC5):c.*1893C>A	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	GUncertain significance
Select item 895128	NM_025219.3(DNAJC5):c.*1873C>T	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	GUncertain significance
Select item 895127	NM_025219.3(DNAJC5):c.*1836C>T	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	GUncertain significance
Select item 895066	NM_025219.3(DNAJC5):c.*853C>A	DNAJC5	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 895065	NM_025219.3(DNAJC5):c.*736G>A	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	GUncertain significance
Select item 894988	NM_025219.3(DNAJC5):c.107+8G>T	DNAJC5	Single nucleotide variant (intron variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	GUncertain significance
Select item 689476	NM_025219.3(DNAJC5):c.370_399dup (p.Cys124_Cys133dup)	DNAJC5	Duplication (inframe_insertion)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	GPathogenic
Select item 431814	NM_025219.3(DNAJC5):c.524C>T (p.Pro175Leu)	DNAJC5 (P175L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 413345	NM_025219.3(DNAJC5):c.561C>T (p.Asp187=)	DNAJC5	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 339447	NM_025219.3(DNAJC5):c.*4387C>G	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type) +1 more	GUncertain significance
Select item 339446	NM_025219.3(DNAJC5):c.*4385A>T	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type) +1 more	GBenign/Likely benign
Select item 339445	NM_025219.3(DNAJC5):c.*4300C>T	DNAJC5	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 339444	NM_025219.3(DNAJC5):c.*4253C>G	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type) +1 more	GUncertain significance
Select item 339443	NM_025219.3(DNAJC5):c.*4131C>T	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type) +1 more	GBenign/Likely benign
Select item 339442	NM_025219.3(DNAJC5):c.*4129G>C	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type) +1 more	GBenign/Likely benign
Select item 339441	NM_025219.3(DNAJC5):c.*4117C>T	DNAJC5	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 339440	NM_025219.3(DNAJC5):c.*4070C>T	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type) +1 more	GUncertain significance
Select item 339439	NM_025219.3(DNAJC5):c.*4070C>G	DNAJC5	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 339438	NM_025219.3(DNAJC5):c.*4065G>A	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type) +1 more	GConflicting classifications of pathogenicity
Select item 339437	NM_025219.3(DNAJC5):c.*4057C>T	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type) +1 more	GUncertain significance
Select item 339436	NM_025219.3(DNAJC5):c.*4007G>C	DNAJC5	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 339435	NM_025219.3(DNAJC5):c.*4006C>T	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type) +1 more	GBenign/Likely benign
Select item 339434	NM_025219.3(DNAJC5):c.*3995A>G	DNAJC5	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 339433	NM_025219.3(DNAJC5):c.*3870G>A	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type) +1 more	GUncertain significance
Select item 339432	NM_025219.3(DNAJC5):c.*3670A>G	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type) +1 more	GBenign/Likely benign
Select item 339431	NM_025219.3(DNAJC5):c.*3629A>G	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type) +1 more	GLikely benign
Select item 339429	NM_025219.3(DNAJC5):c.*3480G>C	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type) +1 more	GUncertain significance
Select item 339428	NM_025219.3(DNAJC5):c.*3432G>A	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive +1 more	GBenign/Likely benign
Select item 339427	NM_025219.3(DNAJC5):c.*3413A>G	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type) +1 more	GBenign/Likely benign
Select item 339426	NM_025219.3(DNAJC5):c.*3375C>T	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type) +1 more	GUncertain significance
Select item 339425	NM_025219.3(DNAJC5):c.*3269C>G	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type) +1 more	GBenign/Likely benign
Select item 339423	NM_025219.3(DNAJC5):c.*3252G>A	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type) +1 more	GConflicting classifications of pathogenicity
Select item 339422	NM_025219.3(DNAJC5):c.*3239C>T	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type) +1 more	GUncertain significance
Select item 339421	NM_025219.3(DNAJC5):c.*3204C>T	DNAJC5	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 339420	NM_025219.3(DNAJC5):c.*3116T>A	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive +1 more	GUncertain significance
Select item 339419	NM_025219.3(DNAJC5):c.*3009G>A	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive +1 more	GUncertain significance
Select item 339418	NM_025219.3(DNAJC5):c.*2993C>T	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive +1 more	GUncertain significance
Select item 339417	NM_025219.3(DNAJC5):c.*2933C>T	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive +1 more	GUncertain significance
Select item 339416	NM_025219.3(DNAJC5):c.*2913G>A	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive +1 more	GUncertain significance
Select item 339415	NM_025219.3(DNAJC5):c.*2912C>T	DNAJC5	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 339414	NM_025219.3(DNAJC5):c.*2878T>C	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive +1 more	GBenign/Likely benign
Select item 339413	NM_025219.3(DNAJC5):c.*2790C>T	DNAJC5	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 339411	NM_025219.3(DNAJC5):c.*2725G>A	DNAJC5	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 339410	NM_025219.3(DNAJC5):c.*2723A>G	DNAJC5	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 339409	NM_025219.3(DNAJC5):c.*2711G>A	DNAJC5	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 339408	NM_025219.3(DNAJC5):c.*2701C>T	DNAJC5	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 339407	NM_025219.3(DNAJC5):c.*2601C>T	DNAJC5	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 339406	NM_025219.3(DNAJC5):c.*2545C>G	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive +1 more	GConflicting classifications of pathogenicity
Select item 339405	NM_025219.3(DNAJC5):c.*2218A>G	DNAJC5	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 339404	NM_025219.3(DNAJC5):c.*2208C>T	DNAJC5	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 339403	NM_025219.3(DNAJC5):c.*2191G>C	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive +1 more	GConflicting classifications of pathogenicity
Select item 339402	NM_025219.3(DNAJC5):c.*2039C>T	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive +1 more	GBenign/Likely benign
Select item 339401	NM_025219.3(DNAJC5):c.*1895C>G	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive +1 more	GUncertain significance
Select item 339400	NM_025219.3(DNAJC5):c.*1820C>A	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive +1 more	GBenign/Likely benign
Select item 339399	NM_025219.3(DNAJC5):c.*1648C>T	DNAJC5	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 339398	NM_025219.3(DNAJC5):c.*1643T>C	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive +1 more	GBenign/Likely benign
Select item 339397	NM_025219.3(DNAJC5):c.*1630C>T	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive +1 more	GBenign/Likely benign
Select item 339396	NM_025219.3(DNAJC5):c.*1604C>T	DNAJC5	Single nucleotide variant (3 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive +1 more	GBenign/Likely benign

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