ClinVar for Gene (Select 84464) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3364665	NM_032444.4(SLX4):c.1360G>C (p.Glu454Gln)	SLX4 (E454Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3349812	NM_032444.4(SLX4):c.2427A>C (p.Glu809Asp)	SLX4 (E809D)	Single nucleotide variant (missense variant)	SLX4-related disorder	GUncertain significance
Select item 3340177	NM_032444.4(SLX4):c.2098G>A (p.Gly700Arg)	SLX4 (G700R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3320615	NM_032444.4(SLX4):c.1993G>A (p.Asp665Asn)	SLX4 (D665N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3320614	NM_032444.4(SLX4):c.5206G>A (p.Gly1736Ser)	SLX4 (G1736S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3320613	NM_032444.4(SLX4):c.4876T>C (p.Cys1626Arg)	SLX4 (C1626R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3320612	NM_032444.4(SLX4):c.3023G>T (p.Ser1008Ile)	SLX4 (S1008I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3320611	NM_032444.4(SLX4):c.334C>T (p.Pro112Ser)	SLX4 (P112S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3320609	NM_032444.4(SLX4):c.4207G>C (p.Glu1403Gln)	SLX4 (E1403Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3320608	NM_032444.4(SLX4):c.499G>C (p.Glu167Gln)	SLX4 (E167Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 3235726	NM_032444.4(SLX4):c.838G>T (p.Gly280Ter)	SLX4 (G280*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group P	GLikely pathogenic
Select item 3234381	NM_032444.4(SLX4):c.5223T>C (p.Ser1741=)	SLX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3166204	NM_032444.4(SLX4):c.976C>G (p.Leu326Val)	SLX4 (L326V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166203	NM_032444.4(SLX4):c.4921G>A (p.Val1641Ile)	SLX4 (V1641I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166201	NM_032444.4(SLX4):c.445G>A (p.Asp149Asn)	SLX4 (D149N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166200	NM_032444.4(SLX4):c.4270G>A (p.Asp1424Asn)	SLX4 (D1424N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166199	NM_032444.4(SLX4):c.4126C>T (p.His1376Tyr)	SLX4 (H1376Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166198	NM_032444.4(SLX4):c.3847G>A (p.Ala1283Thr)	SLX4 (A1283T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166197	NM_032444.4(SLX4):c.3721C>A (p.Arg1241Ser)	SLX4 (R1241S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166196	NM_032444.4(SLX4):c.3005G>T (p.Ser1002Ile)	SLX4 (S1002I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166193	NM_032444.4(SLX4):c.2264T>A (p.Leu755His)	SLX4 (L755H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166192	NM_032444.4(SLX4):c.1726C>T (p.His576Tyr)	SLX4 (H576Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166191	NM_032444.4(SLX4):c.1663G>C (p.Val555Leu)	SLX4 (V555L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166189	NM_032444.4(SLX4):c.1085T>C (p.Val362Ala)	SLX4 (V362A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166188	NM_032444.4(SLX4):c.1014T>G (p.Ile338Met)	SLX4 (I338M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3063472	GRCh37/hg19 16p13.3(chr16:3598059-3677837)x1	NLRC3, SLX4	Copy number loss	not specified	GUncertain significance
Select item 3047268	NM_032444.4(SLX4):c.3951G>T (p.Pro1317=)	SLX4	Single nucleotide variant (synonymous variant)	SLX4-related disorder	GLikely benign
Select item 3029124	NM_032444.4(SLX4):c.4636+7A>G	SLX4	Single nucleotide variant (intron variant)	SLX4-related disorder	GLikely benign
Select item 3024595	GRCh37/hg19 16p13.3(chr16:2990033-4837646)x1	CORO7, CORO7-PAM16 +52 more	Copy number loss	not provided	GPathogenic
Select item 3022902	NM_032444.4(SLX4):c.3722G>C (p.Arg1241Pro)	SLX4 (R1241P)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 3022901	NM_032444.4(SLX4):c.4728G>A (p.Lys1576=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3021314	NM_032444.4(SLX4):c.2328-20G>A	SLX4	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3020362	NM_032444.4(SLX4):c.1507C>T (p.Leu503Phe)	SLX4 (L503F)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 3020217	NM_032444.4(SLX4):c.4420G>A (p.Asp1474Asn)	SLX4 (D1474N)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 3019537	NM_032444.4(SLX4):c.5238C>T (p.Ala1746=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3017965	NM_032444.4(SLX4):c.1396G>A (p.Val466Ile)	SLX4 (V466I)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 3017232	NM_032444.4(SLX4):c.4160C>A (p.Thr1387Asn)	SLX4 (T1387N)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 3017061	NM_032444.4(SLX4):c.487G>A (p.Gly163Ser)	SLX4 (G163S)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 3014321	NM_032444.4(SLX4):c.4678A>G (p.Ile1560Val)	SLX4 (I1560V)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 3013614	NM_032444.4(SLX4):c.1748G>C (p.Arg583Thr)	SLX4 (R583T)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 3013575	NM_032444.4(SLX4):c.4979C>T (p.Ala1660Val)	SLX4 (A1660V)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 3012604	NM_032444.4(SLX4):c.1239G>A (p.Val413=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3008931	NM_032444.4(SLX4):c.456G>A (p.Val152=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3002268	NM_032444.4(SLX4):c.4740-18C>T	SLX4	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3001578	NM_032444.4(SLX4):c.4195G>T (p.Asp1399Tyr)	SLX4 (D1399Y)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2999935	NM_032444.4(SLX4):c.4056G>T (p.Pro1352=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2998965	NM_032444.4(SLX4):c.1498A>C (p.Thr500Pro)	SLX4 (T500P)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2996166	NM_032444.4(SLX4):c.2586A>G (p.Arg862=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2995627	NM_032444.4(SLX4):c.3939C>T (p.Pro1313=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2994184	NM_032444.4(SLX4):c.39C>G (p.Tyr13Ter)	SLX4 (Y13*)	Single nucleotide variant (nonsense)	Fanconi anemia	GPathogenic
Select item 2993600	NM_032444.4(SLX4):c.4968C>T (p.Pro1656=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2987518	NM_032444.4(SLX4):c.1029del (p.Thr345fs)	SLX4 (T345fs)	Deletion (frameshift variant)	Fanconi anemia	GPathogenic
Select item 2987320	NM_032444.4(SLX4):c.4122G>A (p.Leu1374=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2985985	NM_032444.4(SLX4):c.4804A>G (p.Thr1602Ala)	SLX4 (T1602A)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2984427	NM_032444.4(SLX4):c.3906del (p.Asn1302fs)	SLX4 (N1302fs)	Deletion (frameshift variant)	Fanconi anemia	GPathogenic
Select item 2982985	NM_032444.4(SLX4):c.3326G>A (p.Cys1109Tyr)	SLX4 (C1109Y)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2981311	NM_032444.4(SLX4):c.437C>G (p.Ser146Cys)	SLX4 (S146C)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2980313	NM_032444.4(SLX4):c.4620A>C (p.Glu1540Asp)	SLX4 (E1540D)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2979979	NM_032444.4(SLX4):c.950+3G>C	SLX4	Single nucleotide variant (intron variant)	Fanconi anemia	GUncertain significance
Select item 2978806	NM_032444.4(SLX4):c.1991C>A (p.Pro664Gln)	SLX4 (P664Q)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2976900	NM_032444.4(SLX4):c.2535C>A (p.Asn845Lys)	SLX4 (N845K)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2963216	NM_032444.4(SLX4):c.3079G>T (p.Ala1027Ser)	SLX4 (A1027S)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2962950	NM_032444.4(SLX4):c.2577T>C (p.Ala859=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2962794	NM_032444.4(SLX4):c.2148C>T (p.Leu716=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2962105	NM_032444.4(SLX4):c.5333T>G (p.Leu1778Arg)	SLX4 (L1778R)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2961588	NM_032444.4(SLX4):c.1641G>C (p.Thr547=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2961242	NM_032444.4(SLX4):c.1655C>T (p.Pro552Leu)	SLX4 (P552L)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2960024	NM_032444.4(SLX4):c.1766G>T (p.Gly589Val)	SLX4 (G589V)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2959866	NM_032444.4(SLX4):c.4950A>G (p.Gly1650=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2959464	NM_032444.4(SLX4):c.1284C>G (p.Ser428=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2959061	NM_032444.4(SLX4):c.3970T>G (p.Cys1324Gly)	SLX4 (C1324G)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2956082	NM_032444.4(SLX4):c.5412C>T (p.His1804=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2954929	NM_032444.4(SLX4):c.798T>C (p.Ala266=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2954772	NM_032444.4(SLX4):c.1868del (p.Leu623fs)	SLX4 (L623fs)	Deletion (frameshift variant)	Fanconi anemia	GPathogenic
Select item 2920133	NM_032444.4(SLX4):c.760+19T>A	SLX4	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2919947	NM_032444.4(SLX4):c.1917G>T (p.Gly639=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia	GUncertain significance
Select item 2919589	NM_032444.4(SLX4):c.5325C>T (p.Pro1775=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2919010	NM_032444.4(SLX4):c.3681C>T (p.Gly1227=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2918868	NM_032444.4(SLX4):c.1129C>T (p.Gln377Ter)	SLX4 (Q377*)	Single nucleotide variant (nonsense)	Fanconi anemia	GPathogenic
Select item 2917776	NM_032444.4(SLX4):c.4374G>C (p.Met1458Ile)	SLX4 (M1458I)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2916764	NM_032444.4(SLX4):c.416G>C (p.Gly139Ala)	SLX4 (G139A)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2916698	NM_032444.4(SLX4):c.2364G>A (p.Gln788=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2916324	NM_032444.4(SLX4):c.4411G>A (p.Gly1471Arg)	SLX4 (G1471R)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2916106	NM_032444.4(SLX4):c.4831G>A (p.Glu1611Lys)	SLX4 (E1611K)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2914358	NM_032444.4(SLX4):c.951-20T>C	SLX4	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2914163	NM_032444.4(SLX4):c.2793_2805del (p.Gln934fs)	SLX4 (Q934fs)	Deletion (frameshift variant)	Fanconi anemia	GPathogenic
Select item 2912586	NM_032444.4(SLX4):c.4740-8T>A	SLX4	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2912356	NM_032444.4(SLX4):c.553G>T (p.Asp185Tyr)	SLX4 (D185Y)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2912347	NM_032444.4(SLX4):c.4936G>A (p.Glu1646Lys)	SLX4 (E1646K)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2911971	NM_032444.4(SLX4):c.4629G>C (p.Glu1543Asp)	SLX4 (E1543D)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2911765	NM_032444.4(SLX4):c.1548G>A (p.Ala516=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2911612	NM_032444.4(SLX4):c.230A>G (p.Gln77Arg)	SLX4 (Q77R)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2909599	NM_032444.4(SLX4):c.1404C>A (p.Pro468=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2909031	NM_032444.4(SLX4):c.951-11T>C	SLX4	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2906850	NM_032444.4(SLX4):c.5039G>A (p.Arg1680Lys)	SLX4 (R1680K)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2906620	NM_032444.4(SLX4):c.4749C>A (p.Val1583=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign

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