"PreventionGenetics, part of Exact Sciences"[submitter] AND "PARN"[gen - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1589772	NM_002582.4(PARN):c.1875G>A (p.Ser625=)	PARN	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal recessive 6 +2 more	GLikely benign
Select item 542670	NM_002582.4(PARN):c.1843A>G (p.Lys615Glu)	PARN (K615E +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +3 more	GConflicting classifications of pathogenicity
Select item 788348	NM_002582.4(PARN):c.1761C>T (p.Ser587=)	PARN	Single nucleotide variant (synonymous variant)	PARN-related disorder +3 more	GBenign/Likely benign
Select item 436155	NM_002582.4(PARN):c.1691T>C (p.Val564Ala)	PARN (V564A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 738490	NM_002582.4(PARN):c.1464C>T (p.Pro488=)	PARN	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal recessive 6 +4 more	GLikely benign
Select item 730335	NM_002582.4(PARN):c.1434C>T (p.Asp478=)	PARN	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal recessive 6 +2 more	GLikely benign
Select item 730336	NM_002582.4(PARN):c.1413T>C (p.Ile471=)	PARN	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal recessive 6 +2 more	GLikely benign
Select item 1345454	NM_002582.4(PARN):c.1405+1G>T	PARN	Single nucleotide variant (splice donor variant)	PARN-related disorder +2 more	GLikely pathogenic
Select item 1595286	NM_002582.4(PARN):c.1392T>C (p.Leu464=)	PARN	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal recessive 6 +2 more	GLikely benign
Select item 3058146	NM_002582.4(PARN):c.1167C>T (p.Cys389=)	PARN	Single nucleotide variant (synonymous variant)	PARN-related disorder	GLikely benign
Select item 708697	NM_002582.4(PARN):c.1131C>T (p.His377=)	PARN	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal recessive 6 +3 more	GLikely benign
Select item 1108255	NM_002582.4(PARN):c.963-19_963-3del	PARN	Deletion (intron variant)	PARN-related disorder +2 more	GLikely benign
Select item 2636396	NM_002582.4(PARN):c.889G>T (p.Val297Phe)	PARN (V236F +2 more)	Single nucleotide variant (missense variant)	PARN-related disorder	GUncertain significance
Select item 3061328	NM_002582.4(PARN):c.863A>G (p.Asn288Ser)	PARN (N227S +2 more)	Single nucleotide variant (missense variant)	PARN-related disorder	GUncertain significance
Select item 436150	NM_002582.4(PARN):c.840+6del	PARN	Deletion (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +3 more	GBenign/Likely benign
Select item 3047588	NM_002582.4(PARN):c.366T>C (p.Asp122=)	PARN	Single nucleotide variant (synonymous variant)	PARN-related disorder	GLikely benign
Select item 1397335	NM_002582.4(PARN):c.364G>C (p.Asp122His)	PARN (D61H +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +2 more	GUncertain significance
Select item 3030369	NM_002582.4(PARN):c.255G>A (p.Thr85=)	PARN	Single nucleotide variant (synonymous variant +1 more)	PARN-related disorder	GLikely benign
Select item 3029024	NM_002582.4(PARN):c.19+1G>A	PARN	Single nucleotide variant (intron variant +1 more)	PARN-related disorder	GUncertain significance