"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 439692	NM_001018115.3(FANCD2):c.356G>A (p.Arg119His)	FANCD2, LOC107303338 (R119H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 439691	NM_001018115.3(FANCD2):c.696-138C>T	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 257065	NM_001018115.3(FANCD2):c.1122A>G (p.Val374=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia +5 more	GBenign
Select item 342261	NM_001018115.3(FANCD2):c.1170C>T (p.Ser390=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome +3 more	GBenign/Likely benign
Select item 342262	NM_001018115.3(FANCD2):c.1179T>C (p.Thr393=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group D2 +4 more	GBenign/Likely benign
Select item 439693	NM_001018115.3(FANCD2):c.1275C>T (p.Tyr425=)	LOC107303338, FANCD2	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group D2 +1 more	GBenign
Select item 134311	NM_001018115.3(FANCD2):c.1367T>G (p.Leu456Arg)	FANCD2, LOC107303338 (L456R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D2 +4 more	GBenign/Likely benign
Select item 342267	NM_001018115.3(FANCD2):c.1401G>A (p.Thr467=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 342268	NM_001018115.3(FANCD2):c.1413+3A>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 134314	NM_001018115.3(FANCD2):c.1868A>C (p.Gln623Pro)	FANCD2, LOC107303338 (Q623P +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 218824	NM_001018115.3(FANCD2):c.2022-5C>T	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 257072	NM_001018115.3(FANCD2):c.2124T>C (p.Phe708=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 134315	NM_001018115.3(FANCD2):c.2141C>T (p.Pro714Leu)	FANCD2, LOC107303338 (P714L +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D2 +5 more	GBenign/Likely benign
Select item 414647	NM_001018115.3(FANCD2):c.2484G>A (p.Lys828=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome +4 more	GBenign/Likely benign
Select item 257075	NM_001018115.3(FANCD2):c.2712C>T (p.Asn904=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome +4 more	GBenign
Select item 257081	NM_001018115.3(FANCD2):c.4098T>G (p.Leu1366=)	FANCD2, FANCD2OS	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign