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

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 456349	NM_001018115.3(FANCD2):c.182C>T (p.Thr61Met)	FANCD2, LOC107303338 (T61M)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1684725	NM_001018115.3(FANCD2):c.1098+4A>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not specified +1 more	GUncertain significance
Select item 801926	NM_001018115.3(FANCD2):c.1118C>T (p.Ser373Leu)	FANCD2, LOC107303338 (S373L)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
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 801927	NM_001018115.3(FANCD2):c.1135-25G>A	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A	GBenign
Select item 342260	NM_001018115.3(FANCD2):c.1137G>T (p.Val379=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Fanconi anemia +3 more	GBenign
Select item 695992	NM_001018115.3(FANCD2):c.1143C>T (p.Asp381=)	LOC107303338, FANCD2	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely 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 1685810	NM_001018115.3(FANCD2):c.1279-1G>A	FANCD2, LOC107303338	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group D2	GPathogenic
Select item 134312	NM_001018115.3(FANCD2):c.1634A>G (p.Asn545Ser)	FANCD2, LOC107303338 (N545S)	Single nucleotide variant (missense variant +1 more)	not specified +4 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 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 801928	NM_001018115.3(FANCD2):c.2494+95C>A	LOC107303338, FANCD2	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A	GBenign
Select item 801929	NM_001018115.3(FANCD2):c.2494+97T>A	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A	GBenign
Select item 801930	NM_001018115.3(FANCD2):c.2494+98C>A	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A	GBenign
Select item 577043	NM_001018115.3(FANCD2):c.2872G>A (p.Val958Met)	FANCD2, LOC107303338 (V958M +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance