"DNAJC6-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 705664	NM_001256864.2(DNAJC6):c.513G>A (p.Lys171=)	DNAJC6	Single nucleotide variant (synonymous variant)	Juvenile onset Parkinson disease 19A +1 more	GBenign/Likely benign
Select item 3057626	NM_001256864.2(DNAJC6):c.681A>G (p.Ala227=)	DNAJC6	Single nucleotide variant (synonymous variant)	DNAJC6-related disorder	GLikely benign
Select item 541544	NM_001256864.2(DNAJC6):c.745A>G (p.Ile249Val)	DNAJC6 (I249V +2 more)	Single nucleotide variant (missense variant)	DNAJC6-related disorder +2 more	GBenign/Likely benign
Select item 706823	NM_001256864.2(DNAJC6):c.1182A>G (p.Leu394=)	DNAJC6	Single nucleotide variant (synonymous variant)	Juvenile onset Parkinson disease 19A +2 more	GLikely benign
Select item 2063008	NM_001256864.2(DNAJC6):c.1431C>T (p.Tyr477=)	DNAJC6	Single nucleotide variant (synonymous variant)	DNAJC6-related disorder +1 more	GLikely benign
Select item 703945	NM_001256864.2(DNAJC6):c.1492T>A (p.Cys498Ser)	DNAJC6 (C441S +2 more)	Single nucleotide variant (missense variant)	Juvenile onset Parkinson disease 19A +2 more	GConflicting classifications of pathogenicity
Select item 706821	NM_001256864.2(DNAJC6):c.1577A>G (p.Asn526Ser)	DNAJC6 (N456S +2 more)	Single nucleotide variant (missense variant)	Juvenile onset Parkinson disease 19A +1 more	GBenign/Likely benign
Select item 703807	NM_001256864.2(DNAJC6):c.1710G>A (p.Pro570=)	DNAJC6	Single nucleotide variant (synonymous variant)	Juvenile onset Parkinson disease 19A +2 more	GBenign/Likely benign
Select item 1407794	NM_001256864.2(DNAJC6):c.1716G>A (p.Ala572=)	DNAJC6	Single nucleotide variant (synonymous variant)	DNAJC6-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2051812	NM_001256864.2(DNAJC6):c.2025G>A (p.Ser675=)	DNAJC6	Single nucleotide variant (synonymous variant)	Juvenile onset Parkinson disease 19A +1 more	GBenign/Likely benign
Select item 704007	NM_001256864.2(DNAJC6):c.2254A>T (p.Thr752Ser)	DNAJC6 (T682S +2 more)	Single nucleotide variant (missense variant)	Juvenile onset Parkinson disease 19A +1 more	GBenign/Likely benign