Related gene-specific medical variations for Gene (Select 80331) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248231	NC_000020.10:g.(?_62559699)_(62562395_?)del	DNAJC5	Deletion	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2652561	NM_025219.3(DNAJC5):c.-140GCC[10]	DNAJC5, LOC130066405	Microsatellite (5 prime UTR variant)	not provided	GBenign
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 339351	NM_025219.3(DNAJC5):c.-140GCC[9]	LOC130066405, DNAJC5	Microsatellite (5 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive	GUncertain significance
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 339349	NM_025219.3(DNAJC5):c.-160G>C	DNAJC5, LOC130066405	Single nucleotide variant (5 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive	GUncertain significance
Select item 339348	NM_025219.3(DNAJC5):c.-160_-155dup	LOC130066405, DNAJC5	Duplication (5 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive	GUncertain significance
Select item 339347	NM_025219.3(DNAJC5):c.-185G>T	DNAJC5, LOC130066405	Single nucleotide variant (5 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive +1 more	GUncertain significance
Select item 339346	NM_025219.3(DNAJC5):c.-186C>T	LOC130066405, DNAJC5	Single nucleotide variant (5 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive +1 more	GUncertain significance
Select item 339345	NM_025219.3(DNAJC5):c.-184CTGCCG[5]	DNAJC5, LOC130066405	Microsatellite (5 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive	GLikely benign
Select item 339344	NM_025219.3(DNAJC5):c.-194C>T	DNAJC5, LOC130066405	Single nucleotide variant (5 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive +1 more	GUncertain significance