IGDCC4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 58573	GRCh38/hg38 15q22.31(chr15:64448836-65975439)x3	ANKDD1A, CILP +97 more	Copy number gain	See cases	GPathogenic
Select item 2301248	NM_020962.3(IGDCC4):c.3743C>A (p.Ser1248Tyr)	IGDCC4 (S1248Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645460	NM_020962.3(IGDCC4):c.3715C>T (p.Pro1239Ser)	IGDCC4 (P1239S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3108511	NM_020962.3(IGDCC4):c.3577G>A (p.Gly1193Arg)	IGDCC4 (G1193R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304586	NM_020962.3(IGDCC4):c.3566T>C (p.Leu1189Pro)	IGDCC4 (L1189P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221239	NM_020962.3(IGDCC4):c.3559T>G (p.Cys1187Gly)	IGDCC4 (C1187G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350726	NM_020962.3(IGDCC4):c.3430G>A (p.Gly1144Arg)	IGDCC4 (G1144R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285483	NM_020962.3(IGDCC4):c.3392C>T (p.Ala1131Val)	IGDCC4 (A1131V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485658	NM_020962.3(IGDCC4):c.3337A>G (p.Ile1113Val)	IGDCC4 (I1113V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108509	NM_020962.3(IGDCC4):c.3305C>T (p.Thr1102Met)	IGDCC4 (T1102M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285478	NM_020962.3(IGDCC4):c.3286C>G (p.Pro1096Ala)	IGDCC4 (P1096A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598346	NM_020962.3(IGDCC4):c.3286C>A (p.Pro1096Thr)	IGDCC4 (P1096T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108508	NM_020962.3(IGDCC4):c.3284C>T (p.Pro1095Leu)	IGDCC4 (P1095L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712622	NM_020962.3(IGDCC4):c.3181-6G>C	IGDCC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2606428	NM_020962.3(IGDCC4):c.3161G>A (p.Arg1054Gln)	IGDCC4 (R1054Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283065	NM_020962.3(IGDCC4):c.3089C>T (p.Ser1030Phe)	IGDCC4 (S1030F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108507	NM_020962.3(IGDCC4):c.3068A>C (p.His1023Pro)	IGDCC4 (H1023P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543268	NM_020962.3(IGDCC4):c.3059C>T (p.Ser1020Phe)	IGDCC4 (S1020F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495438	NM_020962.3(IGDCC4):c.3029C>A (p.Pro1010His)	IGDCC4 (P1010H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108506	NM_020962.3(IGDCC4):c.3025C>A (p.Pro1009Thr)	IGDCC4 (P1009T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519533	NM_020962.3(IGDCC4):c.2935C>T (p.Arg979Cys)	IGDCC4 (R979C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469644	NM_020962.3(IGDCC4):c.2881G>A (p.Val961Met)	IGDCC4 (V961M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108504	NM_020962.3(IGDCC4):c.2863T>C (p.Ser955Pro)	IGDCC4 (S955P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681327	NM_020962.3(IGDCC4):c.2780C>T (p.Thr927Ile)	IGDCC4 (T927I)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2354971	NM_020962.3(IGDCC4):c.2753G>A (p.Arg918Gln)	IGDCC4 (R918Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399826	NM_020962.3(IGDCC4):c.2746G>A (p.Asp916Asn)	IGDCC4 (D916N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285486	NM_020962.3(IGDCC4):c.2714T>A (p.Ile905Asn)	IGDCC4 (I905N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108502	NM_020962.3(IGDCC4):c.2669C>T (p.Thr890Met)	IGDCC4 (T890M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305895	NM_020962.3(IGDCC4):c.2635G>A (p.Val879Met)	IGDCC4 (V879M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108501	NM_020962.3(IGDCC4):c.2626G>A (p.Gly876Arg)	IGDCC4 (G876R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620020	NM_020962.3(IGDCC4):c.2609C>T (p.Pro870Leu)	IGDCC4 (P870L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108500	NM_020962.3(IGDCC4):c.2593C>G (p.Arg865Gly)	IGDCC4 (R865G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492641	NM_020962.3(IGDCC4):c.2518C>T (p.Arg840Cys)	IGDCC4 (R840C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285481	NM_020962.3(IGDCC4):c.2487C>G (p.Asp829Glu)	IGDCC4 (D829E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616818	NM_020962.3(IGDCC4):c.2323T>C (p.Phe775Leu)	IGDCC4 (F775L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1342435	NM_020962.3(IGDCC4):c.2306G>A (p.Arg769Gln)	IGDCC4 (R769Q)	Single nucleotide variant (missense variant)	IGDCC4-related developmental disorder	GUncertain significance
Select item 2231610	NM_020962.3(IGDCC4):c.2266G>A (p.Val756Ile)	IGDCC4 (V756I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334069	NM_020962.3(IGDCC4):c.2216C>T (p.Pro739Leu)	IGDCC4 (P739L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342305	NM_020962.3(IGDCC4):c.2213C>T (p.Ala738Val)	IGDCC4 (A738V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274026	NM_020962.3(IGDCC4):c.2170G>A (p.Glu724Lys)	IGDCC4 (E724K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285487	NM_020962.3(IGDCC4):c.2110C>G (p.Leu704Val)	IGDCC4 (L704V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253890	NM_020962.3(IGDCC4):c.2032C>T (p.Arg678Cys)	IGDCC4 (R678C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108499	NM_020962.3(IGDCC4):c.2006G>A (p.Gly669Glu)	IGDCC4 (G669E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108498	NM_020962.3(IGDCC4):c.1939G>A (p.Val647Met)	IGDCC4 (V647M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487124	NM_020962.3(IGDCC4):c.1869G>A (p.Met623Ile)	IGDCC4 (M623I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364658	NM_020962.3(IGDCC4):c.1853A>T (p.His618Leu)	IGDCC4 (H618L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374442	NM_020962.3(IGDCC4):c.1766A>T (p.Asn589Ile)	IGDCC4 (N589I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345987	NM_020962.3(IGDCC4):c.1739G>A (p.Arg580Gln)	IGDCC4 (R580Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250039	NM_020962.3(IGDCC4):c.1700G>T (p.Gly567Val)	IGDCC4 (G567V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285488	NM_020962.3(IGDCC4):c.1697A>G (p.Tyr566Cys)	IGDCC4 (Y566C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318109	NM_020962.3(IGDCC4):c.1696T>C (p.Tyr566His)	IGDCC4 (Y566H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335593	NM_020962.3(IGDCC4):c.1617C>G (p.Asn539Lys)	IGDCC4 (N539K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608664	NM_020962.3(IGDCC4):c.1547C>A (p.Thr516Asn)	IGDCC4 (T516N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108497	NM_020962.3(IGDCC4):c.1537C>T (p.Arg513Cys)	IGDCC4 (R513C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588898	NM_020962.3(IGDCC4):c.1507G>T (p.Val503Leu)	IGDCC4 (V503L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645461	NM_020962.3(IGDCC4):c.1455C>T (p.Thr485=)	IGDCC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645462	NM_020962.3(IGDCC4):c.1404G>A (p.Lys468=)	IGDCC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3108496	NM_020962.3(IGDCC4):c.1372C>A (p.Gln458Lys)	IGDCC4 (Q458K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258059	NM_020962.3(IGDCC4):c.1330G>T (p.Ala444Ser)	IGDCC4 (A444S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285480	NM_020962.3(IGDCC4):c.1324A>G (p.Ser442Gly)	IGDCC4 (S442G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280059	NM_020962.3(IGDCC4):c.1290C>A (p.Ser430Arg)	IGDCC4 (S430R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108495	NM_020962.3(IGDCC4):c.1252G>A (p.Ala418Thr)	IGDCC4 (A418T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270812	NM_020962.3(IGDCC4):c.1238T>C (p.Met413Thr)	IGDCC4 (M413T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2301497	NM_020962.3(IGDCC4):c.1130C>T (p.Pro377Leu)	IGDCC4 (P377L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310026	NM_020962.3(IGDCC4):c.1085C>G (p.Pro362Arg)	IGDCC4 (P362R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285484	NM_020962.3(IGDCC4):c.1073C>A (p.Ala358Glu)	IGDCC4 (A358E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108493	NM_020962.3(IGDCC4):c.1043G>C (p.Arg348Pro)	IGDCC4 (R348P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285479	NM_020962.3(IGDCC4):c.970A>G (p.Thr324Ala)	IGDCC4 (T324A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108518	NM_020962.3(IGDCC4):c.944A>G (p.Asn315Ser)	IGDCC4 (N315S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487651	NM_020962.3(IGDCC4):c.815C>T (p.Thr272Ile)	IGDCC4 (T272I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480868	NM_020962.3(IGDCC4):c.730G>C (p.Val244Leu)	IGDCC4 (V244L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517926	NM_020962.3(IGDCC4):c.685A>G (p.Ser229Gly)	IGDCC4 (S229G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285477	NM_020962.3(IGDCC4):c.680T>C (p.Leu227Pro)	IGDCC4 (L227P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278605	NM_020962.3(IGDCC4):c.637G>A (p.Val213Met)	IGDCC4 (V213M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108517	NM_020962.3(IGDCC4):c.568A>G (p.Ile190Val)	IGDCC4 (I190V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535338	NM_020962.3(IGDCC4):c.558G>T (p.Glu186Asp)	IGDCC4 (E186D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393857	NM_020962.3(IGDCC4):c.541G>T (p.Val181Leu)	IGDCC4 (V181L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108515	NM_020962.3(IGDCC4):c.535G>A (p.Asp179Asn)	IGDCC4 (D179N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392549	NM_020962.3(IGDCC4):c.520A>G (p.Ile174Val)	IGDCC4 (I174V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240287	NM_020962.3(IGDCC4):c.511G>A (p.Ala171Thr)	IGDCC4 (A171T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326694	NM_020962.3(IGDCC4):c.484T>A (p.Phe162Ile)	IGDCC4 (F162I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108514	NM_020962.3(IGDCC4):c.482G>A (p.Arg161His)	IGDCC4 (R161H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539329	NM_020962.3(IGDCC4):c.472G>A (p.Gly158Arg)	IGDCC4 (G158R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108513	NM_020962.3(IGDCC4):c.427G>A (p.Ala143Thr)	IGDCC4 (A143T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396403	NM_020962.3(IGDCC4):c.377C>G (p.Pro126Arg)	IGDCC4 (P126R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108512	NM_020962.3(IGDCC4):c.373G>T (p.Gly125Cys)	IGDCC4 (G125C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321612	NM_020962.3(IGDCC4):c.362G>T (p.Cys121Phe)	IGDCC4 (C121F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108510	NM_020962.3(IGDCC4):c.332C>G (p.Ala111Gly)	IGDCC4 (A111G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334814	NM_020962.3(IGDCC4):c.316G>C (p.Glu106Gln)	IGDCC4 (E106Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218289	NM_020962.3(IGDCC4):c.316G>A (p.Glu106Lys)	IGDCC4 (E106K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315592	NM_020962.3(IGDCC4):c.305A>G (p.Asn102Ser)	IGDCC4 (N102S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360621	NM_020962.3(IGDCC4):c.265C>T (p.Pro89Ser)	IGDCC4 (P89S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285485	NM_020962.3(IGDCC4):c.233C>T (p.Thr78Ile)	IGDCC4 (T78I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235255	NM_020962.3(IGDCC4):c.175C>G (p.Leu59Val)	IGDCC4 (L59V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645463	NM_020962.3(IGDCC4):c.133G>A (p.Val45Met)	IGDCC4 (V45M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2400481	NM_020962.3(IGDCC4):c.109A>T (p.Ser37Cys)	IGDCC4 (S37C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243556	NM_020962.3(IGDCC4):c.68G>T (p.Arg23Leu)	IGDCC4 (R23L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285482	NM_020962.3(IGDCC4):c.53G>T (p.Cys18Phe)	IGDCC4 (C18F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645464	NM_020962.3(IGDCC4):c.48C>G (p.Thr16=)	IGDCC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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