DNAJC30[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2628015	NM_032317.3(DNAJC30):c.610G>T (p.Glu204Ter)	DNAJC30	Single nucleotide variant (nonsense)	Leber-like hereditary optic neuropathy, autosomal recessive 1	GPathogenic
Select item 2657564	NM_032317.3(DNAJC30):c.603C>T (p.Leu201=)	DNAJC30	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2277440	NM_032317.3(DNAJC30):c.587G>A (p.Arg196Gln)	DNAJC30 (R196Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084581	NM_032317.3(DNAJC30):c.457G>T (p.Ala153Ser)	DNAJC30 (A153S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084580	NM_032317.3(DNAJC30):c.404C>T (p.Pro135Leu)	DNAJC30 (P135L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499044	NM_032317.3(DNAJC30):c.403C>T (p.Pro135Ser)	DNAJC30 (P135S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3273134	NM_032317.3(DNAJC30):c.398C>T (p.Pro133Leu)	DNAJC30 (P133L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657565	NM_032317.3(DNAJC30):c.397C>T (p.Pro133Ser)	DNAJC30 (P133S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2472369	NM_032317.3(DNAJC30):c.374T>C (p.Val125Ala)	DNAJC30 (V125A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289343	NM_032317.3(DNAJC30):c.305G>C (p.Gly102Ala)	DNAJC30 (G102A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1171027	NM_032317.3(DNAJC30):c.302T>A (p.Leu101Gln)	DNAJC30 (L101Q)	Single nucleotide variant (missense variant)	Leber-like hereditary optic neuropathy, autosomal recessive 1	GPathogenic
Select item 1299584	NM_032317.3(DNAJC30):c.293A>C (p.Tyr98Ser)	DNAJC30 (Y98S)	Single nucleotide variant (missense variant)	Leber hereditary optic neuropathy, autosomal recessive	GLikely pathogenic
Select item 2339597	NM_032317.3(DNAJC30):c.243C>G (p.Asn81Lys)	DNAJC30 (N81K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251975	NM_032317.3(DNAJC30):c.233C>G (p.Pro78Arg)	DNAJC30 (P78R)	Single nucleotide variant (missense variant)	Leber-like hereditary optic neuropathy, autosomal recessive 1	GUncertain significance
Select item 2628016	NM_032317.3(DNAJC30):c.227ACC[1] (p.His77del)	DNAJC30 (H77del)	Microsatellite (inframe_deletion)	Leber-like hereditary optic neuropathy, autosomal recessive 1	GPathogenic
Select item 1171026	NM_032317.3(DNAJC30):c.232C>T (p.Pro78Ser)	DNAJC30 (P78S)	Single nucleotide variant (missense variant)	Leber-like hereditary optic neuropathy, autosomal recessive 1	GPathogenic
Select item 2288756	NM_032317.3(DNAJC30):c.38T>C (p.Leu13Ser)	DNAJC30 (L13S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2628724	NM_032317.3(DNAJC30):c.24G>A (p.Trp8Ter)	DNAJC30 (W8*)	Single nucleotide variant (nonsense)	DNAJC30-related disorder	GLikely pathogenic