Related gene-specific medical variations for Gene (Select 5073) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243544	NC_000016.9:g.(?_14530574)_(14540958_?)dup	PARN	Duplication	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 3243543	NC_000016.9:g.(?_14711427)_(14724045_?)dup	PARN	Duplication	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 3243542	NC_000016.9:g.(?_14720953)_(14721203_?)del	PARN	Deletion	Dyskeratosis congenita, autosomal recessive 6 +1 more	GPathogenic
Select item 3243541	NC_000016.9:g.(?_14693741)_(14700403_?)del	PARN	Deletion	Dyskeratosis congenita, autosomal recessive 6 +1 more	GPathogenic
Select item 3243540	NC_000016.9:g.(?_14711427)_(14724045_?)del	PARN	Deletion	Dyskeratosis congenita, autosomal recessive 6 +1 more	GPathogenic
Select item 3243539	NC_000016.9:g.(?_14704491)_(14704676_?)del	PARN	Deletion	Dyskeratosis congenita, autosomal recessive 6 +1 more	GPathogenic
Select item 3243537	NC_000016.9:g.(?_14530574)_(14724045_?)del	PARN	Deletion	Dyskeratosis congenita, autosomal recessive 6 +1 more	GPathogenic
Select item 3235940	NM_002582.4(PARN):c.918+5G>A	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6	GLikely pathogenic
Select item 2689654	NM_002582.4(PARN):c.534G>T (p.Lys178Asn)	PARN (K117N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434577	NM_002582.4(PARN):c.659A>C (p.Lys220Thr)	PARN (K159T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 974597	NC_000016.9:g.(?_14725823)_(14643928_?)del	PARN	Deletion	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4	GPathogenic
Select item 636642	NM_002582.4(PARN):c.-67T>C	PARN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance