ClinVar for MedGen (Select 1621245) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377801	NM_018124.4(RFWD3):c.1579C>A (p.Leu527Met)	RFWD3 (L249M +1 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia, complementation group W	GUncertain significance
Select item 2441970	NM_018124.4(RFWD3):c.1577G>A (p.Ser526Asn)	RFWD3 (R526K +2 more)	Single nucleotide variant (missense variant)	Fanconi anemia, complementation group W	GUncertain significance
Select item 1327954	NM_018124.4(RFWD3):c.269C>A (p.Thr90Asn)	RFWD3 (T90N)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia, complementation group W +1 more	GBenign
Select item 1327953	NM_018124.4(RFWD3):c.1212G>A (p.Thr404=)	RFWD3	Single nucleotide variant (synonymous variant)	Fanconi anemia, complementation group W +1 more	GBenign
Select item 1327952	NM_018124.4(RFWD3):c.1755-33G>A	RFWD3	Single nucleotide variant (intron variant)	Fanconi anemia, complementation group W +1 more	GBenign
Select item 1185033	NM_018124.4(RFWD3):c.2205G>A (p.Ser735=)	RFWD3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1185032	NM_018124.4(RFWD3):c.1189G>C (p.Val397Leu)	RFWD3 (V119L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 973889	NM_018124.4(RFWD3):c.1367G>C (p.Cys456Ser)	RFWD3 (C178S +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia, complementation group W	GUncertain significance
Select item 446412	NM_018124.4(RFWD3):c.1916T>A (p.Ile639Lys)	RFWD3 (I639K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 446411	NM_018124.4(RFWD3):c.204_205dup (p.Leu69fs)	RFWD3 (L69fs)	Duplication (frameshift variant +2 more)	not provided	GUncertain significance