C3469542[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 848629	NM_032444.4(SLX4):c.5212G>T (p.Gly1738Trp)	SLX4 (G1738W)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 2436113	NM_032444.4(SLX4):c.5195G>C (p.Gly1732Ala)	SLX4 (G1732A)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P	GUncertain significance
Select item 573413	NM_032444.4(SLX4):c.5072A>G (p.Asn1691Ser)	SLX4 (N1691S)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1323619	NM_032444.4(SLX4):c.4625T>A (p.Leu1542Ter)	SLX4 (L1542*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group P	GPathogenic
Select item 645501	NM_032444.4(SLX4):c.4403G>A (p.Arg1468His)	SLX4 (R1468H)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +1 more	GUncertain significance
Select item 570189	NM_032444.4(SLX4):c.3746G>A (p.Ser1249Asn)	SLX4 (S1249N)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 561112	NM_032444.4(SLX4):c.3136C>T (p.Arg1046Cys)	SLX4 (R1046C)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +1 more	GUncertain significance
Select item 407910	NM_032444.4(SLX4):c.3101G>A (p.Arg1034His)	SLX4 (R1034H)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 407928	NM_032444.4(SLX4):c.2654C>T (p.Pro885Leu)	SLX4 (P885L)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 241672	NM_032444.4(SLX4):c.2609C>T (p.Ala870Val)	SLX4 (A870V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +1 more	GConflicting classifications of pathogenicity
Select item 319165	NM_032444.4(SLX4):c.2585G>A (p.Arg862Gln)	SLX4 (R862Q)	Single nucleotide variant (missense variant)	SLX4-related disorder +3 more	GUncertain significance
Select item 407899	NM_032444.4(SLX4):c.2305G>C (p.Glu769Gln)	SLX4 (E769Q)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +3 more	GUncertain significance
Select item 2436114	NM_032444.4(SLX4):c.1045A>G (p.Arg349Gly)	SLX4 (R349G)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P	GUncertain significance
Select item 1325101	NM_032444.4(SLX4):c.951-1G>T	SLX4	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 456338	NM_032444.4(SLX4):c.832C>T (p.Arg278Trp)	SLX4 (R278W)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GConflicting classifications of pathogenicity
Select item 645019	NM_032444.4(SLX4):c.678C>A (p.His226Gln)	SLX4 (H226Q)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +1 more	GUncertain significance
Select item 526398	NM_032444.4(SLX4):c.145G>A (p.Glu49Lys)	SLX4 (E49K)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance