ClinVar for Gene (Select 283455) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358834	NM_173598.6(KSR2):c.1802+8A>G	KSR2	Single nucleotide variant (intron variant)	KSR2-related disorder	GLikely benign
Select item 3358812	NM_173598.6(KSR2):c.1396C>G (p.Pro466Ala)	KSR2 (P466A)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 3358774	NM_173598.6(KSR2):c.2346C>T (p.Ile782=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder	GLikely benign
Select item 3358744	NM_173598.6(KSR2):c.2467C>T (p.Arg823Cys)	KSR2 (R823C)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 3358679	NM_173598.6(KSR2):c.783G>A (p.Pro261=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder	GLikely benign
Select item 3358672	NM_173598.6(KSR2):c.698C>T (p.Pro233Leu)	KSR2 (P233L)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 3358574	NM_173598.6(KSR2):c.*41G>A	KSR2	Single nucleotide variant (3 prime UTR variant)	KSR2-related disorder	GLikely benign
Select item 3358409	NM_173598.6(KSR2):c.1827A>G (p.Gln609=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder	GLikely benign
Select item 3358210	NM_173598.6(KSR2):c.768C>T (p.His256=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder	GLikely benign
Select item 3358108	NM_173598.6(KSR2):c.918C>T (p.Thr306=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder	GLikely benign
Select item 3358067	NM_173598.6(KSR2):c.2154G>C (p.Arg718=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder	GLikely benign
Select item 3357859	NM_173598.6(KSR2):c.2807G>T (p.Arg936Leu)	KSR2 (R936L)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 3357850	NM_173598.6(KSR2):c.279G>A (p.Arg93=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder	GLikely benign
Select item 3357842	NM_173598.6(KSR2):c.1375C>A (p.Leu459Met)	KSR2 (L459M)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 3357687	NM_173598.6(KSR2):c.427C>T (p.Arg143Cys)	KSR2 (R143C)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 3357600	NM_173598.6(KSR2):c.2268C>T (p.Ile756=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder	GLikely benign
Select item 3357586	NM_173598.6(KSR2):c.1383C>T (p.Ile461=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder	GLikely benign
Select item 3357499	NM_173598.6(KSR2):c.473-9C>G	KSR2	Single nucleotide variant (intron variant)	KSR2-related disorder	GLikely benign
Select item 3357333	NM_173598.6(KSR2):c.1948A>C (p.Ser650Arg)	KSR2 (S650R)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 3357330	NM_173598.6(KSR2):c.2317-4G>T	KSR2	Single nucleotide variant (intron variant)	KSR2-related disorder	GLikely benign
Select item 3357329	NM_173598.6(KSR2):c.986+6T>C	KSR2	Single nucleotide variant (intron variant)	KSR2-related disorder	GLikely benign
Select item 3357053	NM_173598.6(KSR2):c.1281C>A (p.Val427=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder	GLikely benign
Select item 3356926	NM_173598.6(KSR2):c.2444C>T (p.Ala815Val)	KSR2 (A815V)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 3356862	NM_173598.6(KSR2):c.426C>T (p.Ala142=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder	GLikely benign
Select item 3356803	NM_173598.6(KSR2):c.1501dup (p.Thr501fs)	KSR2 (T501fs)	Duplication (frameshift variant)	KSR2-related disorder	GUncertain significance
Select item 3356435	NM_173598.6(KSR2):c.1730-4T>G	KSR2	Single nucleotide variant (intron variant)	KSR2-related disorder	GLikely benign
Select item 3356306	NM_173598.6(KSR2):c.2406G>A (p.Thr802=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder	GLikely benign
Select item 3356216	NM_173598.6(KSR2):c.986+7G>A	KSR2	Single nucleotide variant (intron variant)	KSR2-related disorder	GLikely benign
Select item 3356061	NM_173598.6(KSR2):c.2547C>T (p.Leu849=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder	GLikely benign
Select item 3356031	NM_173598.6(KSR2):c.1525A>T (p.Ile509Phe)	KSR2 (I509F)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 3355822	NM_173598.6(KSR2):c.210G>A (p.Gln70=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder	GLikely benign
Select item 3355813	NM_173598.6(KSR2):c.1204A>T (p.Ile402Phe)	KSR2 (I402F)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 3355582	NM_173598.6(KSR2):c.1377G>T (p.Leu459=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder	GLikely benign
Select item 3355505	NM_173598.6(KSR2):c.1966C>T (p.Leu656Phe)	KSR2 (L656F)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 3355468	NM_173598.6(KSR2):c.1491G>A (p.Thr497=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder	GLikely benign
Select item 3355354	NM_173598.6(KSR2):c.2807G>A (p.Arg936His)	KSR2 (R936H)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 3355304	NM_173598.6(KSR2):c.1866T>G (p.His622Gln)	KSR2 (H622Q)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 3355277	NM_173598.6(KSR2):c.2713-3T>C	KSR2	Single nucleotide variant (intron variant)	KSR2-related disorder	GLikely benign
Select item 3355208	NM_173598.6(KSR2):c.2175C>T (p.Phe725=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder	GLikely benign
Select item 3354985	NM_173598.6(KSR2):c.696C>T (p.Tyr232=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder	GLikely benign
Select item 3354920	NM_173598.6(KSR2):c.1851+8T>C	KSR2	Single nucleotide variant (intron variant)	KSR2-related disorder	GLikely benign
Select item 3354868	NM_173598.6(KSR2):c.325A>C (p.Ile109Leu)	KSR2 (I109L)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 3354763	NM_173598.6(KSR2):c.1326-10T>A	KSR2	Single nucleotide variant (intron variant)	KSR2-related disorder	GLikely benign
Select item 3354589	NM_173598.6(KSR2):c.2405C>T (p.Thr802Met)	KSR2 (T802M)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 3354553	NM_173598.6(KSR2):c.1394-2G>A	KSR2	Single nucleotide variant (splice acceptor variant)	KSR2-related disorder	GUncertain significance
Select item 3354511	NM_173598.6(KSR2):c.1222G>A (p.Gly408Ser)	KSR2 (G408S)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 3354429	NM_173598.6(KSR2):c.1731T>C (p.Asp577=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder	GLikely benign
Select item 3354390	NM_173598.6(KSR2):c.714C>A (p.Pro238=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder	GLikely benign
Select item 3354355	NM_173598.6(KSR2):c.1528C>G (p.Pro510Ala)	KSR2 (P510A)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 3354354	NM_173598.6(KSR2):c.1533C>T (p.Val511=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder	GLikely benign
Select item 3354346	NM_173598.6(KSR2):c.1607T>C (p.Leu536Pro)	KSR2 (L536P)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 3354334	NM_173598.6(KSR2):c.2439G>T (p.Leu813=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder	GLikely benign
Select item 3354283	NM_173598.6(KSR2):c.1725C>T (p.Phe575=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder	GLikely benign
Select item 3354103	NM_173598.6(KSR2):c.1760G>A (p.Arg587Gln)	KSR2 (R587Q)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 3354079	NM_173598.6(KSR2):c.2801G>A (p.Arg934Gln)	KSR2 (R934Q)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 3353864	NM_173598.6(KSR2):c.2151A>G (p.Thr717=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder	GLikely benign
Select item 3353545	NM_173598.6(KSR2):c.1876G>A (p.Glu626Lys)	KSR2 (E626K)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 3353535	NM_173598.6(KSR2):c.841A>C (p.Lys281Gln)	KSR2 (K281Q)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 3353404	NM_173598.6(KSR2):c.1284T>C (p.Cys428=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder	GLikely benign
Select item 3353251	NM_173598.6(KSR2):c.615C>T (p.Cys205=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder	GLikely benign
Select item 3353193	NM_173598.6(KSR2):c.581A>G (p.His194Arg)	KSR2 (H194R)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 3353086	NM_173598.6(KSR2):c.1179G>C (p.Leu393=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder	GLikely benign
Select item 3353035	NM_173598.6(KSR2):c.485C>T (p.Ser162Phe)	KSR2 (S162F)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 3352995	NM_173598.6(KSR2):c.957G>T (p.Gly319=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder	GLikely benign
Select item 3352980	NM_173598.6(KSR2):c.321+10G>A	KSR2	Single nucleotide variant (intron variant)	KSR2-related disorder	GLikely benign
Select item 3352966	NM_173598.6(KSR2):c.1620C>A (p.Ala540=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder	GLikely benign
Select item 3352884	NM_173598.6(KSR2):c.1867G>C (p.Asp623His)	KSR2 (D623H)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 3352738	NM_173598.6(KSR2):c.2527G>C (p.Asp843His)	KSR2 (D843H)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 3352669	NM_173598.6(KSR2):c.2847-7A>G	KSR2	Single nucleotide variant (intron variant)	KSR2-related disorder	GLikely benign
Select item 3352630	NM_173598.6(KSR2):c.2513G>A (p.Arg838His)	KSR2 (R838H)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 3352597	NM_173598.6(KSR2):c.600G>A (p.Arg200=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder	GLikely benign
Select item 3352596	NM_173598.6(KSR2):c.2468G>A (p.Arg823His)	KSR2 (R823H)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 3352474	NM_173598.6(KSR2):c.321+6C>T	KSR2	Single nucleotide variant (intron variant)	KSR2-related disorder	GLikely benign
Select item 3352267	NM_173598.6(KSR2):c.1325+10T>G	KSR2	Single nucleotide variant (intron variant)	KSR2-related disorder	GLikely benign
Select item 3352218	NM_173598.6(KSR2):c.370G>T (p.Asp124Tyr)	KSR2 (D124Y)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 3352204	NM_173598.6(KSR2):c.2100C>T (p.Asn700=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder	GLikely benign
Select item 3352189	NM_173598.6(KSR2):c.2125C>T (p.Arg709Trp)	KSR2 (R709W)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 3352113	NM_173598.6(KSR2):c.788G>A (p.Arg263His)	KSR2 (R263H)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 3352084	NM_173598.6(KSR2):c.2389G>A (p.Gly797Ser)	KSR2 (G797S)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 3352023	NM_173598.6(KSR2):c.1387C>T (p.Arg463Ter)	KSR2 (R463*)	Single nucleotide variant (nonsense)	KSR2-related disorder	GLikely pathogenic
Select item 3352018	NM_173598.6(KSR2):c.130A>C (p.Lys44Gln)	KSR2 (K44Q)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 3352008	NM_173598.6(KSR2):c.753G>A (p.Ser251=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder	GLikely benign
Select item 3351998	NM_173598.6(KSR2):c.874C>T (p.Pro292Ser)	KSR2 (P292S)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 3351991	NM_173598.6(KSR2):c.344G>A (p.Ser115Asn)	KSR2 (S115N)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 3351965	NM_173598.6(KSR2):c.1816C>T (p.Pro606Ser)	KSR2 (P606S)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 3351866	NM_173598.6(KSR2):c.1073C>T (p.Pro358Leu)	KSR2 (P358L)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 3351855	NM_173598.6(KSR2):c.1739C>T (p.Pro580Leu)	KSR2 (P580L)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 3351761	NM_173598.6(KSR2):c.1443C>T (p.Asn481=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder	GLikely benign
Select item 3351688	NM_173598.6(KSR2):c.267C>T (p.Phe89=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder	GLikely benign
Select item 3351553	NM_173598.6(KSR2):c.1681C>T (p.Leu561=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder	GLikely benign
Select item 3351540	NM_173598.6(KSR2):c.769G>A (p.Ala257Thr)	KSR2 (A257T)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 3351535	NM_173598.6(KSR2):c.244C>T (p.Arg82Cys)	KSR2 (R82C)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 3351496	NM_173598.6(KSR2):c.1104C>T (p.Phe368=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder	GLikely benign
Select item 3351475	NM_173598.6(KSR2):c.742C>T (p.Leu248=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder	GLikely benign
Select item 3351448	NM_173598.6(KSR2):c.511_516delinsTCCAGAGAGACC (p.Pro171delinsSerArgGlu)	KSR2	Indel (inframe_indel)	KSR2-related disorder	GUncertain significance
Select item 3351444	NM_173598.6(KSR2):c.2450+7G>A	KSR2	Single nucleotide variant (intron variant)	KSR2-related disorder	GLikely benign
Select item 3351390	NM_173598.6(KSR2):c.312G>C (p.Glu104Asp)	KSR2 (E104D)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 3351316	NM_173598.6(KSR2):c.295G>A (p.Val99Ile)	KSR2 (V99I)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 3351277	NM_173598.6(KSR2):c.2004C>G (p.Ile668Met)	KSR2 (I668M)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 3351191	NM_173598.6(KSR2):c.525G>A (p.Thr175=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder	GLikely benign

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