"ITMI"[submitter] AND "LOC107303338"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 134319	NM_001018115.3(FANCD2):c.195G>C (p.Gln65His)	FANCD2, LOC107303338 (Q65H)	Single nucleotide variant (missense variant)	Fanconi anemia +4 more	GBenign/Likely benign
Select item 134327	NM_001018115.3(FANCD2):c.516A>G (p.Ile172Met)	FANCD2, LOC107303338 (I172M)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +3 more	GBenign
Select item 134328	NM_001018115.3(FANCD2):c.577A>G (p.Thr193Ala)	FANCD2, LOC107303338 (T193A)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GBenign/Likely benign
Select item 134310	NM_001018115.3(FANCD2):c.983G>A (p.Arg328Gln)	FANCD2, LOC107303338 (R328Q)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GBenign/Likely benign
Select item 134311	NM_001018115.3(FANCD2):c.1367T>G (p.Leu456Arg)	FANCD2, LOC107303338 (L456R)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +4 more	GBenign/Likely benign
Select item 134312	NM_001018115.3(FANCD2):c.1634A>G (p.Asn545Ser)	FANCD2, LOC107303338 (N545S)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group A +4 more	GBenign/Likely benign
Select item 134313	NM_001018115.3(FANCD2):c.1777C>T (p.Pro593Ser)	FANCD2, LOC107303338 (P593S +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D2 +4 more	GConflicting classifications of pathogenicity
Select item 134314	NM_001018115.3(FANCD2):c.1868A>C (p.Gln623Pro)	FANCD2, LOC107303338 (Q623P +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D2 +5 more	GBenign/Likely benign
Select item 134315	NM_001018115.3(FANCD2):c.2141C>T (p.Pro714Leu)	FANCD2, LOC107303338 (P714L +1 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +5 more	GBenign/Likely benign
Select item 134316	NM_001018115.3(FANCD2):c.2555C>T (p.Pro852Leu)	FANCD2, LOC107303338 (P852L +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 134317	NM_001018115.3(FANCD2):c.2567C>G (p.Thr856Ser)	FANCD2, LOC107303338 (T856S +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134318	NM_001018115.3(FANCD2):c.2702G>T (p.Gly901Val)	FANCD2, LOC107303338 (G901V +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 134320	NM_001018115.3(FANCD2):c.2965C>G (p.Pro989Ala)	FANCD2, LOC107303338 (P989A +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +4 more	GUncertain significance