KSR2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	TRD-GTC2-10, TRD-GTC2-9 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	AACS, ABCB9 +892 more	Copy number gain	See cases	GPathogenic
Select item 3030694	NM_173598.6(KSR2):c.2847-8C>T	KSR2	Single nucleotide variant (intron variant)	KSR2-related disorder	GLikely benign
Select item 1599375	NM_173598.6(KSR2):c.2846+18A>G	KSR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2889798	NM_173598.6(KSR2):c.2846+10C>T	KSR2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1548791	NM_173598.6(KSR2):c.2829T>C (p.His943=)	KSR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2634120	NM_173598.6(KSR2):c.2810G>A (p.Arg937His)	KSR2 (R937H)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 768590	NM_173598.6(KSR2):c.2757T>C (p.Pro919=)	KSR2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1988610	NM_173598.6(KSR2):c.2713-11G>A	KSR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1587466	NM_173598.6(KSR2):c.2711C>T (p.Ser904Leu)	KSR2 (S904L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3050227	NM_173598.6(KSR2):c.2676C>T (p.Pro892=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder	GLikely benign
Select item 3040890	NM_173598.6(KSR2):c.2632C>T (p.Pro878Ser)	KSR2 (P878S)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 3057800	NM_173598.6(KSR2):c.2595T>C (p.Tyr865=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder	GLikely benign
Select item 3029894	NM_173598.6(KSR2):c.2577C>T (p.Ala859=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder	GLikely benign
Select item 2888877	NM_173598.6(KSR2):c.2532A>G (p.Thr844=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder +1 more	GLikely benign
Select item 3052667	NM_173598.6(KSR2):c.2527G>A (p.Asp843Asn)	KSR2 (D843N)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 2746781	NM_173598.6(KSR2):c.2526C>T (p.Pro842=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder +1 more	GLikely benign
Select item 1338787	NM_173598.6(KSR2):c.2512C>T (p.Arg838Cys)	KSR2 (R838C)	Single nucleotide variant (missense variant)	Class III obesity +5 more	GUncertain significance
Select item 3035141	NM_173598.6(KSR2):c.2487A>C (p.Leu829=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder	GLikely benign
Select item 3053951	NM_173598.6(KSR2):c.2472C>T (p.Ile824=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder	GLikely benign
Select item 2634248	NM_173598.6(KSR2):c.2453G>A (p.Arg818Gln)	KSR2 (R818Q)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 2753865	NM_173598.6(KSR2):c.2452C>T (p.Arg818Trp)	KSR2 (R818W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 770234	NM_173598.6(KSR2):c.2451-3C>T	KSR2	Single nucleotide variant	not provided +1 more	GBenign
Select item 2082781	NM_173598.6(KSR2):c.2388C>T (p.Asn796=)	KSR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2883011	NM_173598.6(KSR2):c.2337C>G (p.Ala779=)	KSR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1988747	NM_173598.6(KSR2):c.2317-14C>G	KSR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1563603	NM_173598.6(KSR2):c.2317-18G>A	KSR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970248	NM_173598.6(KSR2):c.2316+19C>T	KSR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2739481	NM_173598.6(KSR2):c.2316+8C>T	KSR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2633087	NM_173598.6(KSR2):c.2269G>A (p.Val757Ile)	KSR2 (V757I)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 3037928	NM_173598.6(KSR2):c.2253G>A (p.Val751=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder	GLikely benign
Select item 2636729	NM_173598.6(KSR2):c.2248G>C (p.Val750Leu)	KSR2 (V750L)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 1953966	NM_173598.6(KSR2):c.2248G>A (p.Val750Ile)	KSR2 (V750I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 742541	NM_173598.6(KSR2):c.2247C>T (p.Ser749=)	KSR2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2630530	NM_173598.6(KSR2):c.2234G>A (p.Arg745Gln)	KSR2 (R745Q)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 1899700	NM_173598.6(KSR2):c.2220-14del	KSR2	Deletion (intron variant)	not provided	GLikely benign
Select item 3045659	NM_173598.6(KSR2):c.2219+3C>A	KSR2	Single nucleotide variant (intron variant)	KSR2-related disorder	GLikely benign
Select item 2634728	NM_173598.6(KSR2):c.2209A>G (p.Ile737Val)	KSR2 (I737V)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 3054863	NM_173598.6(KSR2):c.2196G>A (p.Pro732=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder	GLikely benign
Select item 2160563	NM_173598.6(KSR2):c.2177T>C (p.Met726Thr)	KSR2 (M726T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2635949	NM_173598.6(KSR2):c.2137G>A (p.Ala713Thr)	KSR2 (A713T)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 1650410	NM_173598.6(KSR2):c.2115G>A (p.Lys705=)	KSR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2719940	NM_173598.6(KSR2):c.2046C>T (p.His682=)	KSR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2628897	NM_173598.6(KSR2):c.2005G>A (p.Gly669Ser)	KSR2 (G669S)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 778666	NM_173598.6(KSR2):c.2004C>T (p.Ile668=)	KSR2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3042444	NM_173598.6(KSR2):c.2000A>T (p.Glu667Val)	KSR2 (E667V)	Single nucleotide variant (missense variant)	KSR2-related disorder	GLikely benign
Select item 2634383	NM_173598.6(KSR2):c.1995G>C (p.Gln665His)	KSR2 (Q665H)	Single nucleotide variant (missense variant)	KSR2-related disorder +1 more	GUncertain significance
Select item 2580898	NM_173598.6(KSR2):c.1940G>A (p.Arg647His)	KSR2 (R647H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2634063	NM_173598.6(KSR2):c.1928G>A (p.Arg643Gln)	KSR2 (R643Q)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 2634064	NM_173598.6(KSR2):c.1886_1887del (p.Glu629fs)	KSR2 (E629fs)	Microsatellite (frameshift variant)	KSR2-related disorder	GLikely pathogenic
Select item 3030303	NM_173598.6(KSR2):c.1875C>T (p.Ala625=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder	GLikely benign
Select item 2634220	NM_173598.6(KSR2):c.1852-8G>A	KSR2	Single nucleotide variant (intron variant)	KSR2-related disorder +1 more	GUncertain significance
Select item 730600	NM_173598.6(KSR2):c.1852-9C>T	KSR2	Single nucleotide variant	KSR2-related disorder +1 more	GBenign
Select item 2471560	NM_173598.6(KSR2):c.1829T>C (p.Ile610Thr)	KSR2 (I610T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2636966	NM_173598.6(KSR2):c.1802+2T>A	KSR2	Single nucleotide variant (splice donor variant)	KSR2-related disorder	GLikely pathogenic
Select item 1914536	NM_173598.6(KSR2):c.1794G>A (p.Ser598=)	KSR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2303107	NM_173598.6(KSR2):c.1784C>T (p.Pro595Leu)	KSR2 (P595L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2712312	NM_173598.6(KSR2):c.1764G>A (p.Ala588=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder +1 more	GLikely benign
Select item 2634238	NM_173598.6(KSR2):c.1759C>T (p.Arg587Trp)	KSR2 (R587W)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 2739919	NM_173598.6(KSR2):c.1755G>A (p.Pro585=)	KSR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3040593	NM_173598.6(KSR2):c.1746G>A (p.Pro582=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder	GLikely benign
Select item 2637187	NM_173598.6(KSR2):c.1745C>T (p.Pro582Leu)	KSR2 (P582L)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 3031198	NM_173598.6(KSR2):c.1740G>A (p.Pro580=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder	GLikely benign
Select item 2029115	NM_173598.6(KSR2):c.1729+10A>T	KSR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1990427	NM_173598.6(KSR2):c.1720A>G (p.Ile574Val)	KSR2 (I574V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1532957	NM_173598.6(KSR2):c.1719C>T (p.Phe573=)	KSR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1658553	NM_173598.6(KSR2):c.1693C>T (p.His565Tyr)	KSR2 (H565Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2955741	NM_173598.6(KSR2):c.1687+20G>C	KSR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2804632	NM_173598.6(KSR2):c.1687+19A>C	KSR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3050514	NM_173598.6(KSR2):c.1687+9del	KSR2	Deletion (intron variant)	KSR2-related disorder	GLikely benign
Select item 3008524	NM_173598.6(KSR2):c.1665G>C (p.Gln555His)	KSR2 (Q555H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 783040	NM_173598.6(KSR2):c.1661G>A (p.Arg554Gln)	KSR2 (R554Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3117184	NM_173598.6(KSR2):c.1654T>C (p.Cys552Arg)	KSR2 (C552R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2629209	NM_173598.6(KSR2):c.1637T>C (p.Leu546Pro)	KSR2 (L546P)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 2825148	NM_173598.6(KSR2):c.1635C>T (p.Pro545=)	KSR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888306	NM_173598.6(KSR2):c.1626G>A (p.Pro542=)	KSR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 773835	NM_173598.6(KSR2):c.1623G>A (p.Thr541=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder +1 more	GBenign
Select item 1646486	NM_173598.6(KSR2):c.1605C>A (p.Pro535=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder +1 more	GLikely benign
Select item 779610	NM_173598.6(KSR2):c.1605C>G (p.Pro535=)	KSR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3043674	NM_173598.6(KSR2):c.1593G>A (p.Ser531=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder	GLikely benign
Select item 2991254	NM_173598.6(KSR2):c.1590C>G (p.Ser530=)	KSR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1624252	NM_173598.6(KSR2):c.1590C>T (p.Ser530=)	KSR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3041651	NM_173598.6(KSR2):c.1584G>A (p.Thr528=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder	GLikely benign
Select item 3049204	NM_173598.6(KSR2):c.1575G>A (p.Thr525=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder	GLikely benign
Select item 2122147	NM_173598.6(KSR2):c.1572G>A (p.Thr524=)	KSR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2251580	NM_173598.6(KSR2):c.1568C>T (p.Ser523Phe)	KSR2 (S523F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035955	NM_173598.6(KSR2):c.1566C>T (p.Ser522=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder	GLikely benign
Select item 1615204	NM_173598.6(KSR2):c.1519-11T>C	KSR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2634734	NM_173598.6(KSR2):c.1501A>G (p.Thr501Ala)	KSR2 (T501A)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 3040822	NM_173598.6(KSR2):c.1462C>T (p.Arg488Cys)	KSR2 (R488C)	Single nucleotide variant (missense variant)	KSR2-related disorder	GUncertain significance
Select item 1431316	NM_173598.6(KSR2):c.1439A>G (p.Asn480Ser)	KSR2 (N480S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3048921	NM_173598.6(KSR2):c.1428G>T (p.Pro476=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder	GLikely benign
Select item 1612361	NM_173598.6(KSR2):c.1428G>A (p.Pro476=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder +1 more	GBenign
Select item 3057861	NM_173598.6(KSR2):c.1422C>T (p.Ser474=)	KSR2	Single nucleotide variant (synonymous variant)	KSR2-related disorder	GLikely benign
Select item 3045437	NM_173598.6(KSR2):c.1394-3C>T	KSR2	Single nucleotide variant (intron variant)	KSR2-related disorder	GLikely benign
Select item 3035161	NM_173598.6(KSR2):c.1394-5T>C	KSR2	Single nucleotide variant (intron variant)	KSR2-related disorder	GLikely benign
Select item 2164194	NM_173598.6(KSR2):c.1388G>A (p.Arg463Gln)	KSR2 (R463Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3117183	NM_173598.6(KSR2):c.1381A>G (p.Ile461Val)	KSR2 (I461V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1642557	NM_173598.6(KSR2):c.1326-15_1326-12del	KSR2	Deletion (intron variant)	not provided	GLikely benign

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