"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LOC112486223"[gen - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1027038	NM_000135.4(FANCA):c.68C>T (p.Ala23Val)	FANCA, LOC112486223 (A23V)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 550541	NM_000135.4(FANCA):c.65G>A (p.Trp22Ter)	FANCA, LOC112486223 (W22*)	Single nucleotide variant (nonsense)	Fanconi anemia +2 more	GPathogenic/Likely pathogenic
Select item 1114657	NM_000135.4(FANCA):c.57G>C (p.Arg19=)	FANCA, LOC112486223	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group A +1 more	GLikely benign
Select item 1003089	NM_000135.4(FANCA):c.55C>T (p.Arg19Trp)	FANCA, LOC112486223 (R19W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 408172	NM_000135.4(FANCA):c.46G>C (p.Gly16Arg)	FANCA, LOC112486223 (G16R)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 237054	NM_000135.4(FANCA):c.41A>G (p.Asp14Gly)	FANCA, LOC112486223 (D14G)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1023296	NM_000135.4(FANCA):c.38A>G (p.Gln13Arg)	FANCA, LOC112486223 (Q13R)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 649118	NM_000135.4(FANCA):c.28G>A (p.Ala10Thr)	FANCA, LOC112486223 (A10T)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +1 more	GUncertain significance
Select item 1049198	NM_000135.4(FANCA):c.20C>A (p.Pro7Gln)	FANCA, LOC112486223 (P7Q)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +1 more	GUncertain significance
Select item 1007548	NM_000135.4(FANCA):c.19C>T (p.Pro7Ser)	FANCA, LOC112486223 (P7S)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 697768	NM_000135.4(FANCA):c.12G>C (p.Ser4=)	FANCA, LOC112486223	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group A +1 more	GLikely benign
Select item 551731	NM_000135.4(FANCA):c.11C>A (p.Ser4Ter)	FANCA, LOC112486223 (S4*)	Single nucleotide variant (nonsense)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 794391	NM_000135.4(FANCA):c.6C>G (p.Ser2=)	FANCA, LOC112486223	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 553965	NM_000135.4(FANCA):c.1A>T (p.Met1Leu)	FANCA, LOC112486223 (M1L)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 435134	NM_000135.4(FANCA):c.1A>G (p.Met1Val)	FANCA, LOC112486223 (M1V)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group A +2 more	GPathogenic