"Illumina Laboratory Services, Illumina"[submitter] AND "PFAS"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 326090	NM_025099.6(CTC1):c.33C>T (p.Ser11=)	CTC1, PFAS	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 326091	NM_025099.6(CTC1):c.13C>G (p.Arg5Gly)	CTC1, PFAS (R5G)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 581397	NM_025099.6(CTC1):c.8C>T (p.Ala3Val)	CTC1, PFAS (A3V)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +2 more	GUncertain significance
Select item 326092	NM_025099.6(CTC1):c.-10C>T	CTC1, PFAS	Single nucleotide variant (5 prime UTR variant +1 more)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 326093	NM_025099.5(CTC1):c.-59C>G	CTC1, LOC130060238 +1 more	Single nucleotide variant (genic upstream transcript variant)	Dyskeratosis Congenita, Recessive	GUncertain significance
Select item 369245	NM_025099.5(CTC1):c.-62dupC	CTC1, LOC130060238 +1 more	Duplication	not provided +1 more	GBenign/Likely benign
Select item 369246	NM_025099.6(CTC1):c.-69G>A	CTC1, LOC130060238 +1 more	Single nucleotide variant	Dyskeratosis Congenita, Recessive +2 more	GBenign
Select item 2671586	Single allele	TMEM88, TRG-GCC2-6 +31 more	Duplication	not provided	GUncertain significance

ClinVar