KNTC1[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	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +786 more	Copy number gain	See cases	GPathogenic
Select item 58232	GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3	LOC130008976, LOC130008977 +264 more	Copy number gain	See cases	GUncertain significance
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 154387	GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1	AACS, ABCB9 +416 more	Copy number loss	See cases	GPathogenic
Select item 155183	GRCh38/hg38 12q24.31-24.32(chr12:121917758-127802717)x1	AACS, ABCB9 +330 more	Copy number loss	See cases	GPathogenic
Select item 3116164	NM_014708.6(KNTC1):c.8A>G (p.Asn3Ser)	KNTC1 (N3S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289226	NM_014708.6(KNTC1):c.33T>A (p.Asp11Glu)	KNTC1 (D11E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373492	NM_014708.6(KNTC1):c.40G>A (p.Gly14Arg)	KNTC1 (G14R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352022	NM_014708.6(KNTC1):c.95A>G (p.Gln32Arg)	KNTC1 (Q32R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289124	NM_014708.6(KNTC1):c.237G>C (p.Leu79Phe)	KNTC1 (L79F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516702	NM_014708.6(KNTC1):c.296T>C (p.Leu99Pro)	KNTC1 (L99P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116148	NM_014708.6(KNTC1):c.302T>C (p.Val101Ala)	KNTC1 (V101A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242831	NM_014708.6(KNTC1):c.307G>A (p.Glu103Lys)	KNTC1 (E103K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231650	NM_014708.6(KNTC1):c.343T>A (p.Ser115Thr)	KNTC1 (S115T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116150	NM_014708.6(KNTC1):c.397C>T (p.Arg133Trp)	KNTC1 (R133W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315411	NM_014708.6(KNTC1):c.431A>G (p.Asp144Gly)	KNTC1 (D144G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289227	NM_014708.6(KNTC1):c.455A>G (p.Tyr152Cys)	KNTC1 (Y152C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477582	NM_014708.6(KNTC1):c.455A>C (p.Tyr152Ser)	KNTC1 (Y152S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116156	NM_014708.6(KNTC1):c.470C>T (p.Thr157Ile)	KNTC1 (T157I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359757	NM_014708.6(KNTC1):c.548C>G (p.Thr183Arg)	KNTC1 (T183R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289225	NM_014708.6(KNTC1):c.706G>A (p.Asp236Asn)	KNTC1 (D236N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116163	NM_014708.6(KNTC1):c.872C>T (p.Ser291Phe)	KNTC1 (S291F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116165	NM_014708.6(KNTC1):c.938G>A (p.Gly313Glu)	KNTC1 (G313E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533449	NM_014708.6(KNTC1):c.1175C>T (p.Thr392Met)	KNTC1 (T392M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299217	NM_014708.6(KNTC1):c.1175C>A (p.Thr392Lys)	KNTC1 (T392K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516901	NM_014708.6(KNTC1):c.1274T>C (p.Leu425Pro)	KNTC1 (L425P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253315	NM_014708.6(KNTC1):c.1307A>G (p.Glu436Gly)	KNTC1 (E436G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643501	NM_014708.6(KNTC1):c.1347C>T (p.Thr449=)	KNTC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2313037	NM_014708.6(KNTC1):c.1397A>G (p.Gln466Arg)	KNTC1 (Q466R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272060	NM_014708.6(KNTC1):c.1430A>G (p.Lys477Arg)	KNTC1 (K477R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289232	NM_014708.6(KNTC1):c.1487G>A (p.Arg496Lys)	KNTC1 (R496K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116144	NM_014708.6(KNTC1):c.1510A>G (p.Thr504Ala)	KNTC1 (T504A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275895	NM_014708.6(KNTC1):c.1543G>A (p.Val515Met)	KNTC1 (V515M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116145	NM_014708.6(KNTC1):c.1558G>A (p.Ala520Thr)	KNTC1 (A520T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354507	NM_014708.6(KNTC1):c.1816A>G (p.Asn606Asp)	KNTC1 (N606D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611226	NM_014708.6(KNTC1):c.2030A>C (p.Gln677Pro)	KNTC1 (Q677P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331720	NM_014708.6(KNTC1):c.2176A>G (p.Lys726Glu)	KNTC1 (K726E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409757	NM_014708.6(KNTC1):c.2237G>T (p.Arg746Ile)	KNTC1 (R746I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467736	NM_014708.6(KNTC1):c.2378C>T (p.Thr793Met)	KNTC1 (T793M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605012	NM_014708.6(KNTC1):c.2476G>T (p.Asp826Tyr)	KNTC1 (D826Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251063	NM_014708.6(KNTC1):c.2519T>C (p.Met840Thr)	KNTC1 (M840T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372960	NM_014708.6(KNTC1):c.2524A>T (p.Met842Leu)	KNTC1 (M842L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289224	NM_014708.6(KNTC1):c.2546A>G (p.Tyr849Cys)	KNTC1 (Y849C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391754	NM_014708.6(KNTC1):c.2553A>G (p.Ile851Met)	KNTC1 (I851M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351307	NM_014708.6(KNTC1):c.2597G>A (p.Arg866Lys)	KNTC1 (R866K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456606	NM_014708.6(KNTC1):c.2624C>A (p.Ser875Tyr)	KNTC1 (S875Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517752	NM_014708.6(KNTC1):c.2635G>A (p.Asp879Asn)	KNTC1 (D879N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116147	NM_014708.6(KNTC1):c.2668T>C (p.Ser890Pro)	KNTC1 (S890P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2516456	NM_014708.6(KNTC1):c.2669C>A (p.Ser890Tyr)	KNTC1 (S890Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486735	NM_014708.6(KNTC1):c.2756C>T (p.Pro919Leu)	KNTC1 (P919L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289230	NM_014708.6(KNTC1):c.2962A>G (p.Lys988Glu)	KNTC1 (K988E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316415	NM_014708.6(KNTC1):c.3034G>T (p.Val1012Leu)	KNTC1 (V1012L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522826	NM_014708.6(KNTC1):c.3139A>G (p.Ser1047Gly)	KNTC1 (S1047G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529798	NM_014708.6(KNTC1):c.3173C>T (p.Ala1058Val)	KNTC1 (A1058V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390707	NM_014708.6(KNTC1):c.3305T>G (p.Leu1102Trp)	KNTC1 (L1102W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116149	NM_014708.6(KNTC1):c.3484G>A (p.Val1162Ile)	KNTC1 (V1162I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267813	NM_014708.6(KNTC1):c.3625G>A (p.Val1209Met)	KNTC1 (V1209M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549563	NM_014708.6(KNTC1):c.3676A>G (p.Ser1226Gly)	KNTC1 (S1226G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262067	NM_014708.6(KNTC1):c.3760T>C (p.Ser1254Pro)	KNTC1 (S1254P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317975	NM_014708.6(KNTC1):c.3982A>G (p.Thr1328Ala)	KNTC1 (T1328A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116151	NM_014708.6(KNTC1):c.4220G>T (p.Trp1407Leu)	KNTC1 (W1407L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323822	NM_014708.6(KNTC1):c.4235G>A (p.Gly1412Asp)	KNTC1 (G1412D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116153	NM_014708.6(KNTC1):c.4309G>C (p.Val1437Leu)	KNTC1 (V1437L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378240	NM_014708.6(KNTC1):c.4325T>G (p.Met1442Arg)	KNTC1 (M1442R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289228	NM_014708.6(KNTC1):c.4327G>A (p.Asp1443Asn)	KNTC1 (D1443N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459489	NM_014708.6(KNTC1):c.4370A>C (p.Asp1457Ala)	KNTC1 (D1457A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116154	NM_014708.6(KNTC1):c.4403C>T (p.Thr1468Met)	KNTC1 (T1468M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299536	NM_014708.6(KNTC1):c.4465C>T (p.Arg1489Trp)	KNTC1 (R1489W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217473	NM_014708.6(KNTC1):c.4587G>T (p.Met1529Ile)	KNTC1 (M1529I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541648	NM_014708.6(KNTC1):c.4702C>A (p.Pro1568Thr)	KNTC1 (P1568T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300907	NM_014708.6(KNTC1):c.4705G>A (p.Val1569Met)	KNTC1 (V1569M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282233	NM_014708.6(KNTC1):c.4727T>A (p.Met1576Lys)	KNTC1 (M1576K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292075	NM_014708.6(KNTC1):c.4864T>A (p.Leu1622Ile)	KNTC1 (L1622I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488522	NM_014708.6(KNTC1):c.4885T>A (p.Phe1629Ile)	KNTC1 (F1629I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643502	NM_014708.6(KNTC1):c.4923C>T (p.His1641=)	KNTC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2378654	NM_014708.6(KNTC1):c.4948A>G (p.Lys1650Glu)	KNTC1 (K1650E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289231	NM_014708.6(KNTC1):c.4973A>C (p.Lys1658Thr)	KNTC1 (K1658T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296379	NM_014708.6(KNTC1):c.5022C>G (p.Ile1674Met)	KNTC1 (I1674M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588498	NM_014708.6(KNTC1):c.5116T>C (p.Ser1706Pro)	KNTC1 (S1706P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595853	NM_014708.6(KNTC1):c.5162A>C (p.Asn1721Thr)	KNTC1 (N1721T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544764	NM_014708.6(KNTC1):c.5350C>G (p.Gln1784Glu)	KNTC1 (Q1784E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239614	NM_014708.6(KNTC1):c.5567G>A (p.Arg1856His)	KNTC1 (R1856H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541943	NM_014708.6(KNTC1):c.5654A>G (p.His1885Arg)	KNTC1 (H1885R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512788	NM_014708.6(KNTC1):c.5663G>A (p.Arg1888Gln)	KNTC1 (R1888Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289229	NM_014708.6(KNTC1):c.5683T>C (p.Tyr1895His)	KNTC1 (Y1895H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477189	NM_014708.6(KNTC1):c.5706A>G (p.Ile1902Met)	KNTC1 (I1902M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116159	NM_014708.6(KNTC1):c.5927T>C (p.Leu1976Pro)	KNTC1 (L1976P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214275	NM_014708.6(KNTC1):c.6148G>A (p.Glu2050Lys)	KNTC1 (E2050K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407898	NM_014708.6(KNTC1):c.6178A>T (p.Ile2060Phe)	KNTC1 (I2060F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399666	NM_014708.6(KNTC1):c.6259A>G (p.Lys2087Glu)	KNTC1 (K2087E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246607	NM_014708.6(KNTC1):c.6338A>G (p.Asn2113Ser)	KNTC1 (N2113S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643503	NM_014708.6(KNTC1):c.6378T>C (p.Ser2126=)	KNTC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3116160	NM_014708.6(KNTC1):c.6380T>G (p.Leu2127Arg)	KNTC1 (L2127R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617688	NM_014708.6(KNTC1):c.6461C>T (p.Ala2154Val)	KNTC1 (A2154V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2396994	NM_014708.6(KNTC1):c.6518T>C (p.Leu2173Ser)	KNTC1 (L2173S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324408	NM_014708.6(KNTC1):c.6520G>A (p.Asp2174Asn)	KNTC1 (D2174N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116162	NM_014708.6(KNTC1):c.6559T>C (p.Cys2187Arg)	KNTC1 (C2187R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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