"GeneDx"[submitter] AND "PFAS"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59583	GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1	ALOX12B, ALOX15B +191 more	Copy number loss	See cases	GPathogenic
Select item 1271918	NM_025099.6(CTC1):c.33+159T>G	CTC1, PFAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227785	NM_025099.6(CTC1):c.33+144C>T	CTC1, LOC130060237 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 698540	NM_025099.6(CTC1):c.24C>A (p.Val8=)	CTC1, PFAS	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +2 more	GConflicting classifications of pathogenicity
Select item 326091	NM_025099.6(CTC1):c.13C>G (p.Arg5Gly)	CTC1, PFAS (R5G)	Single nucleotide variant (missense variant +1 more)	Cerebroretinal microangiopathy with calcifications and cysts 1 +2 more	GUncertain significance
Select item 1212110	NC_000017.11:g.8248066del	CTC1, PFAS	Deletion (genic upstream transcript variant)	not provided	GLikely benign
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	not provided +2 more	GBenign
Select item 1257181	NC_000017.11:g.8248158C>T	CTC1, PFAS	Single nucleotide variant	not provided	GBenign
Select item 1217079	NC_000017.11:g.8248352G>T	CTC1, PFAS	Single nucleotide variant	not provided	GLikely benign