Related gene-specific medical variations for Gene (Select 134218) - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3084546	NM_001012339.3(DNAJC21):c.32G>T (p.Arg11Leu)	DNAJC21, LOC129993792 (R11L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065635	NM_001012339.3(DNAJC21):c.381delinsCTAGTGT (p.Leu127delinsPheTer)	DNAJC21	Indel (nonsense)	Bone marrow failure syndrome 3	GPathogenic
Select item 2959934	NM_001012339.3(DNAJC21):c.97+12T>A	DNAJC21, LOC129993792	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2891321	NM_001012339.3(DNAJC21):c.21G>T (p.Ala7=)	DNAJC21, LOC129993792	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2882549	NM_001012339.3(DNAJC21):c.6G>A (p.Lys2=)	DNAJC21, LOC129993792	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2840038	NM_001012339.3(DNAJC21):c.57C>T (p.Leu19=)	DNAJC21, LOC129993792	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2807142	NM_001012339.3(DNAJC21):c.15T>G (p.Tyr5Ter)	LOC129993792, DNAJC21 (Y5*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2806396	NM_001012339.3(DNAJC21):c.97+1G>T	DNAJC21, LOC129993792	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2186567	NM_001012339.3(DNAJC21):c.97+4A>G	DNAJC21, LOC129993792	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2094655	NM_001012339.3(DNAJC21):c.50A>T (p.Glu17Val)	DNAJC21, LOC129993792 (E17V)	Single nucleotide variant (missense variant)	DNAJC21-related disorder +1 more	GUncertain significance
Select item 2091860	NM_001012339.3(DNAJC21):c.13T>G (p.Tyr5Asp)	DNAJC21, LOC129993792 (Y5D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2081833	NM_001012339.3(DNAJC21):c.28G>T (p.Val10Leu)	DNAJC21, LOC129993792 (V10L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2074816	NM_001012339.3(DNAJC21):c.25G>A (p.Gly9Arg)	DNAJC21, LOC129993792 (G9R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2062915	NM_001012339.3(DNAJC21):c.32G>C (p.Arg11Pro)	DNAJC21, LOC129993792 (R11P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1965711	NM_001012339.3(DNAJC21):c.97+20C>T	DNAJC21, LOC129993792	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1959160	NM_001012339.3(DNAJC21):c.97+16G>T	DNAJC21, LOC129993792	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1949835	NM_001012339.3(DNAJC21):c.96G>T (p.Pro32=)	DNAJC21, LOC129993792	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1942371	NM_001012339.3(DNAJC21):c.97+14C>T	DNAJC21, LOC129993792	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1941638	NM_001012339.3(DNAJC21):c.97+15C>T	DNAJC21, LOC129993792	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1695122	NM_001012339.3(DNAJC21):c.-171del	DNAJC21, LOC129993790	Deletion (5 prime UTR variant)	not provided	GUncertain significance
Select item 1634335	NM_001012339.3(DNAJC21):c.12C>T (p.His4=)	DNAJC21, LOC129993792	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1475927	NM_001012339.3(DNAJC21):c.43A>C (p.Ser15Arg)	DNAJC21, LOC129993792 (S15R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1381698	NM_001012339.3(DNAJC21):c.23T>G (p.Leu8Arg)	DNAJC21, LOC129993792 (L8R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1354212	NM_001012339.3(DNAJC21):c.35_36delinsAG (p.Arg12Gln)	DNAJC21, LOC129993792 (R12Q)	Indel (missense variant)	not provided	GUncertain significance
Select item 1349241	NM_001012339.3(DNAJC21):c.97+1G>C	DNAJC21, LOC129993792	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1168765	NM_001012339.3(DNAJC21):c.97+12T>G	DNAJC21, LOC129993792	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 798856	NM_001012339.3(DNAJC21):c.50A>G (p.Glu17Gly)	DNAJC21, LOC129993792 (E17G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 724583	NM_001012339.3(DNAJC21):c.97+5G>A	LOC129993792, DNAJC21	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 717195	NM_001012339.3(DNAJC21):c.51G>A (p.Glu17=)	DNAJC21, LOC129993792	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 636932	NM_001012339.3(DNAJC21):c.1186-573G>T	DNAJC21 (G414*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 222063	NM_001012339.3(DNAJC21):c.94C>G (p.Pro32Ala)	DNAJC21, LOC129993792 (P32A)	Single nucleotide variant (missense variant)	Bone marrow failure syndrome 3 +1 more	GPathogenic

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Links from Gene

Items: 31