Related gene-specific medical variations for Gene (Select 84464) - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064843	NM_032444.4(SLX4):c.951-3C>G	SLX4	Single nucleotide variant (intron variant)	Fanconi anemia complementation group P	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 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 1323619	NM_032444.4(SLX4):c.4625T>A (p.Leu1542Ter)	SLX4 (L1542*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group P	GPathogenic
Select item 1319590	NM_032444.4(SLX4):c.-11G>A	SLX4	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1319584	NM_032444.4(SLX4):c.1262T>C (p.Leu421Pro)	SLX4 (L421P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319577	NM_032444.4(SLX4):c.1717C>T (p.Pro573Ser)	SLX4 (P573S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319576	NM_032444.4(SLX4):c.1798C>T (p.Pro600Ser)	SLX4 (P600S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319571	NM_032444.4(SLX4):c.2315C>A (p.Ser772Tyr)	SLX4 (S772Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319555	NM_032444.4(SLX4):c.2722C>T (p.Pro908Ser)	SLX4 (P908S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319549	NM_032444.4(SLX4):c.2797G>A (p.Gly933Ser)	SLX4 (G933S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319516	NM_032444.4(SLX4):c.3046C>G (p.Leu1016Val)	SLX4 (L1016V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319511	NM_032444.4(SLX4):c.3119C>T (p.Pro1040Leu)	SLX4 (P1040L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319490	NM_032444.4(SLX4):c.4200_4202del (p.Asp1400del)	SLX4 (D1400del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1319481	NM_032444.4(SLX4):c.464A>T (p.Glu155Val)	SLX4 (E155V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319475	NM_032444.4(SLX4):c.4663C>A (p.Pro1555Thr)	SLX4 (P1555T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319472	NM_032444.4(SLX4):c.4910C>G (p.Ser1637Ter)	SLX4 (S1637*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1319455	NM_032444.4(SLX4):c.703G>C (p.Ala235Pro)	SLX4 (A235P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 887605	NM_032444.4(SLX4):c.-614G>C	LOC130058347, SLX4	Single nucleotide variant (5 prime UTR variant)	Fanconi anemia complementation group P	GUncertain significance
Select item 884456	NM_032444.4(SLX4):c.-631G>A	LOC130058347, SLX4	Single nucleotide variant (5 prime UTR variant)	Fanconi anemia complementation group P	GUncertain significance
Select item 807971	NM_032444.4(SLX4):c.2321C>G (p.Ala774Gly)	SLX4 (A774G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591942	NM_032444.4(SLX4):c.2977G>T (p.Glu993Ter)	SLX4 (E993*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 591682	NM_032444.4(SLX4):c.5153+1G>A	SLX4	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 591095	NM_032444.4(SLX4):c.3331_3332insTA (p.Asn1111fs)	SLX4 (N1111fs)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 319207	NM_032444.4(SLX4):c.-616C>T	LOC130058347, SLX4	Single nucleotide variant (5 prime UTR variant)	Fanconi anemia complementation group P	GUncertain significance
Select item 319206	NM_032444.4(SLX4):c.-603+8G>C	LOC130058347, SLX4	Single nucleotide variant (intron variant)	Fanconi anemia complementation group P	GUncertain significance

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Links from Gene

Items: 26