ClinVar for Gene (Select 80726) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 158

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3286398	NM_001145304.2(IQCN):c.147A>C (p.Lys49Asn)	IQCN (K3N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286397	NM_001145304.2(IQCN):c.1249C>G (p.Gln417Glu)	IQCN (Q371E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286396	NM_001145304.2(IQCN):c.1624A>C (p.Asn542His)	IQCN (N542H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286394	NM_001145304.2(IQCN):c.1067C>T (p.Ala356Val)	IQCN (A356V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286393	NM_001145304.2(IQCN):c.3301G>A (p.Glu1101Lys)	IQCN (E1101K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286392	NM_001145304.2(IQCN):c.3925T>C (p.Ser1309Pro)	IQCN (S1076P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286391	NM_001145304.2(IQCN):c.4099A>G (p.Ile1367Val)	IQCN (I1134V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3286390	NM_001145304.2(IQCN):c.3100G>C (p.Val1034Leu)	IQCN (V1034L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286389	NM_001145304.2(IQCN):c.115G>A (p.Ala39Thr)	IQCN (A39T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286388	NM_001145304.2(IQCN):c.1529C>T (p.Ser510Leu)	IQCN (S464L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286387	NM_001145304.2(IQCN):c.3595G>A (p.Gly1199Arg)	IQCN (G1012R +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3286386	NM_001145304.2(IQCN):c.95C>T (p.Ala32Val)	IQCN (A32V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286385	NM_001145304.2(IQCN):c.2087T>A (p.Leu696Gln)	IQCN (L650Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286384	NM_001145304.2(IQCN):c.224C>T (p.Ala75Val)	IQCN (A29V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3110584	NM_001145304.2(IQCN):c.920C>T (p.Thr307Met)	IQCN (T261M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3110583	NM_001145304.2(IQCN):c.796A>G (p.Ile266Val)	IQCN (I220V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3110582	NM_001145304.2(IQCN):c.779G>A (p.Cys260Tyr)	IQCN (C214Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110581	NM_001145304.2(IQCN):c.725C>T (p.Thr242Met)	IQCN (T196M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3110580	NM_001145304.2(IQCN):c.706G>A (p.Ala236Thr)	IQCN (A236T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3110579	NM_001145304.2(IQCN):c.697C>T (p.Arg233Trp)	IQCN (R187W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110578	NM_001145304.2(IQCN):c.569A>G (p.Lys190Arg)	IQCN (K144R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110577	NM_001145304.2(IQCN):c.499G>A (p.Ala167Thr)	IQCN (A121T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110576	NM_001145304.2(IQCN):c.415C>T (p.Arg139Cys)	IQCN (R139C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110575	NM_001145304.2(IQCN):c.4079G>A (p.Arg1360Gln)	IQCN (R1127Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3110574	NM_001145304.2(IQCN):c.4043C>T (p.Ala1348Val)	IQCN (A1161V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110573	NM_001145304.2(IQCN):c.4021A>C (p.Ser1341Arg)	IQCN (S1154R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110572	NM_001145304.2(IQCN):c.3977C>T (p.Ala1326Val)	IQCN (A1326V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110571	NM_001145304.2(IQCN):c.3896G>A (p.Arg1299His)	IQCN (R1112H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3110570	NM_001145304.2(IQCN):c.3893A>G (p.His1298Arg)	IQCN (H1065R +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3110569	NM_001145304.2(IQCN):c.3848G>T (p.Trp1283Leu)	IQCN (W1050L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110568	NM_001145304.2(IQCN):c.3682G>A (p.Ala1228Thr)	IQCN (A1041T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110567	NM_001145304.2(IQCN):c.3561C>A (p.His1187Gln)	IQCN (H1187Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110566	NM_001145304.2(IQCN):c.3511C>A (p.Arg1171Ser)	IQCN (R1171S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110565	NM_001145304.2(IQCN):c.349T>C (p.Tyr117His)	IQCN (Y71H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3110564	NM_001145304.2(IQCN):c.3491C>T (p.Thr1164Met)	IQCN (T977M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110563	NM_001145304.2(IQCN):c.3488C>A (p.Thr1163Asn)	IQCN (T1163N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110562	NM_001145304.2(IQCN):c.3460C>T (p.Arg1154Trp)	IQCN (R921W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110561	NM_001145304.2(IQCN):c.3452G>A (p.Arg1151His)	IQCN (R1151H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110560	NM_001145304.2(IQCN):c.3451C>T (p.Arg1151Cys)	IQCN (R964C +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3110559	NM_001145304.2(IQCN):c.3443G>A (p.Arg1148His)	IQCN (R961H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110558	NM_001145304.2(IQCN):c.3388C>T (p.Arg1130Cys)	IQCN (R897C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110557	NM_001145304.2(IQCN):c.3373C>T (p.Arg1125Cys)	IQCN (R892C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110556	NM_001145304.2(IQCN):c.3346G>A (p.Ala1116Thr)	IQCN (A1116T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110555	NM_001145304.2(IQCN):c.3337C>T (p.Arg1113Cys)	IQCN (R880C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110554	NM_001145304.2(IQCN):c.3293G>A (p.Arg1098Gln)	IQCN (R865Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3110553	NM_001145304.2(IQCN):c.3266G>T (p.Arg1089Leu)	IQCN (R902L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110552	NM_001145304.2(IQCN):c.3260C>T (p.Thr1087Ile)	IQCN (T1087I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110551	NM_001145304.2(IQCN):c.3223G>A (p.Ala1075Thr)	IQCN (A1075T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110550	NM_001145304.2(IQCN):c.3185C>T (p.Ala1062Val)	IQCN (A829V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3110549	NM_001145304.2(IQCN):c.310G>A (p.Ala104Thr)	IQCN (A104T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110548	NM_001145304.2(IQCN):c.3089C>T (p.Thr1030Met)	IQCN (T1030M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110547	NM_001145304.2(IQCN):c.3079G>T (p.Val1027Leu)	IQCN (V1027L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110546	NM_001145304.2(IQCN):c.3059C>T (p.Ser1020Leu)	IQCN (S1020L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110545	NM_001145304.2(IQCN):c.3055G>A (p.Ala1019Thr)	IQCN (A1019T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3110544	NM_001145304.2(IQCN):c.2998C>G (p.Leu1000Val)	IQCN (L1000V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110543	NM_001145304.2(IQCN):c.2900T>C (p.Met967Thr)	IQCN (M967T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110542	NM_001145304.2(IQCN):c.2866C>T (p.Arg956Trp)	IQCN (R956W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110541	NM_001145304.2(IQCN):c.2840G>A (p.Arg947His)	IQCN (R947H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110540	NM_001145304.2(IQCN):c.2839C>T (p.Arg947Cys)	IQCN (R947C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110539	NM_001145304.2(IQCN):c.2796G>A (p.Met932Ile)	IQCN (M932I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110538	NM_001145304.2(IQCN):c.2702C>A (p.Ala901Asp)	IQCN (A901D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110537	NM_001145304.2(IQCN):c.2587G>A (p.Gly863Ser)	IQCN (G817S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3110536	NM_001145304.2(IQCN):c.2566C>T (p.Arg856Cys)	IQCN (R810C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110535	NM_001145304.2(IQCN):c.2557G>C (p.Gly853Arg)	IQCN (G807R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110534	NM_001145304.2(IQCN):c.2557G>A (p.Gly853Arg)	IQCN (G807R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110533	NM_001145304.2(IQCN):c.2501C>T (p.Pro834Leu)	IQCN (P834L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110532	NM_001145304.2(IQCN):c.2459G>C (p.Gly820Ala)	IQCN (G774A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110531	NM_001145304.2(IQCN):c.2434G>T (p.Val812Leu)	IQCN (V812L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110530	NM_001145304.2(IQCN):c.2432A>G (p.His811Arg)	IQCN (H765R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110529	NM_001145304.2(IQCN):c.235G>A (p.Val79Ile)	IQCN (V79I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3110528	NM_001145304.2(IQCN):c.2345A>G (p.Asn782Ser)	IQCN (N736S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110527	NM_001145304.2(IQCN):c.2342C>G (p.Ser781Cys)	IQCN (S781C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110526	NM_001145304.2(IQCN):c.233G>A (p.Arg78His)	IQCN (R32H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3110525	NM_001145304.2(IQCN):c.2284G>C (p.Ala762Pro)	IQCN (A716P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110524	NM_001145304.2(IQCN):c.2276C>T (p.Ala759Val)	IQCN (A713V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110523	NM_001145304.2(IQCN):c.2233C>T (p.Arg745Trp)	IQCN (R699W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110522	NM_001145304.2(IQCN):c.211G>A (p.Glu71Lys)	IQCN (E25K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3110521	NM_001145304.2(IQCN):c.1975C>T (p.Arg659Trp)	IQCN (R613W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110520	NM_001145304.2(IQCN):c.1924G>A (p.Asp642Asn)	IQCN (D642N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110519	NM_001145304.2(IQCN):c.1880A>T (p.Glu627Val)	IQCN (E581V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110518	NM_001145304.2(IQCN):c.1806A>C (p.Glu602Asp)	IQCN (E602D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110517	NM_001145304.2(IQCN):c.179A>G (p.Lys60Arg)	IQCN (K14R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110516	NM_001145304.2(IQCN):c.1778C>G (p.Pro593Arg)	IQCN (P593R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110515	NM_001145304.2(IQCN):c.1763C>T (p.Pro588Leu)	IQCN (P588L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3110514	NM_001145304.2(IQCN):c.1743G>T (p.Arg581Ser)	IQCN (R535S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110513	NM_001145304.2(IQCN):c.1721A>G (p.Tyr574Cys)	IQCN (Y528C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3110512	NM_001145304.2(IQCN):c.1696G>C (p.Val566Leu)	IQCN (V520L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110511	NM_001145304.2(IQCN):c.1687G>T (p.Ala563Ser)	IQCN (A517S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110510	NM_001145304.2(IQCN):c.1594C>T (p.Pro532Ser)	IQCN (P532S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110509	NM_001145304.2(IQCN):c.1526G>A (p.Arg509His)	IQCN (R463H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110508	NM_001145304.2(IQCN):c.1522T>A (p.Leu508Ile)	IQCN (L462I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3110507	NM_001145304.2(IQCN):c.1502T>C (p.Ile501Thr)	IQCN (I455T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110506	NM_001145304.2(IQCN):c.1445A>C (p.Gln482Pro)	IQCN (Q436P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110505	NM_001145304.2(IQCN):c.1400C>T (p.Pro467Leu)	IQCN (P467L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3110504	NM_001145304.2(IQCN):c.1358C>A (p.Thr453Asn)	IQCN (T407N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110503	NM_001145304.2(IQCN):c.1340G>A (p.Gly447Glu)	IQCN (G447E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110502	NM_001145304.2(IQCN):c.1337C>T (p.Pro446Leu)	IQCN (P400L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110501	NM_001145304.2(IQCN):c.1295C>G (p.Ser432Cys)	IQCN (S386C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3110500	NM_001145304.2(IQCN):c.1247G>A (p.Arg416Gln)	IQCN (R370Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110499	NM_001145304.2(IQCN):c.1150G>A (p.Gly384Arg)	IQCN (G338R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 2