ClinVar for MedGen (Select 901479) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24283271.	NM_001329943.3(KIAA0586):c.3304G>A (p.Gly1102Arg) GRCh37: Chr14:58953884 GRCh38: Chr14:58487166	KIAA0586	G1017R, G1026R, G1058R, G1087R, G1102R, G1155R, G962R	Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Uncertain significance (Jun 26, 2022)	criteria provided, single submitter
Select item 24277692.	NM_001329943.3(KIAA0586):c.4564G>C (p.Val1522Leu) GRCh37: Chr14:59014567 GRCh38: Chr14:58547849	KIAA0586	S1550T, S1603T, V1415L, V1437L, V1446L, V1478L, V1500L, V1507L, V1522L	Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 24260193.	NM_001329943.3(KIAA0586):c.1885-12_1885-11del GRCh37: Chr14:58927691-58927692 GRCh38: Chr14:58460973-58460974	KIAA0586		Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Likely benign (Jun 17, 2022)	criteria provided, single submitter
Select item 24240204.	NC_000014.8:g.(?_58894347)_(59014694_?)dup GRCh37: Chr14:58894347-59014694	KIAA0586		Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 24240195.	NC_000014.8:g.(?_58951496)_(58953792_?)del GRCh37: Chr14:58951496-58953792	KIAA0586		Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Likely pathogenic (Dec 13, 2021)	criteria provided, single submitter
Select item 24240186.	NC_000014.8:g.(?_58910652)_(58917484_?)dup GRCh37: Chr14:58910652-58917484	KIAA0586		Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Likely pathogenic (Jun 14, 2022)	criteria provided, single submitter
Select item 24240177.	NC_000014.8:g.(?_59010581)_(59014694_?)dup GRCh37: Chr14:59010581-59014694	KIAA0586		Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 24240168.	NC_000014.8:g.(?_58896061)_(58899195_?)dup GRCh37: Chr14:58896061-58899195	KIAA0586		Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Likely pathogenic (May 27, 2022)	criteria provided, single submitter
Select item 24240159.	NC_000014.8:g.(?_58894347)_(58899195_?)dup GRCh37: Chr14:58894347-58899195	KIAA0586		Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Uncertain significance (May 24, 2022)	criteria provided, single submitter
Select item 242401410.	NC_000014.8:g.(?_58949211)_(58949450_?)dup GRCh37: Chr14:58949211-58949450	KIAA0586		Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Likely pathogenic (Dec 1, 2021)	criteria provided, single submitter
Select item 242401311.	NC_000014.8:g.(?_58938897)_(58941535_?)del GRCh37: Chr14:58938897-58941535	KIAA0586		Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 242401212.	NC_000014.8:g.(?_58926541)_(58927898_?)del GRCh37: Chr14:58926541-58927898	KIAA0586		Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Pathogenic (Feb 11, 2022)	criteria provided, single submitter
Select item 242401113.	NC_000014.8:g.(?_58910652)_(58910913_?)del GRCh37: Chr14:58910652-58910913	KIAA0586		Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Uncertain significance (Jun 9, 2022)	criteria provided, single submitter
Select item 242401014.	NC_000014.8:g.(?_58975253)_(58975447_?)del GRCh37: Chr14:58975253-58975447	KIAA0586		Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Pathogenic (Jul 14, 2022)	criteria provided, single submitter
Select item 242122915.	NM_001329943.3(KIAA0586):c.831C>G (p.Leu277=) GRCh37: Chr14:58915081 GRCh38: Chr14:58448363	KIAA0586		Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Likely benign (Mar 21, 2022)	criteria provided, single submitter
Select item 242053316.	NM_001329943.3(KIAA0586):c.524C>T (p.Ser175Leu) GRCh37: Chr14:58909537 GRCh38: Chr14:58442819	KIAA0586	S131L, S160L, S175L, S228L, S35L, S90L	Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 242051117.	NM_001329943.3(KIAA0586):c.4517C>T (p.Ser1506Phe) GRCh37: Chr14:59014520 GRCh38: Chr14:58547802	KIAA0586	S1399F, S1421F, S1430F, S1462F, S1484F, S1491F, S1506F	Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 242043518.	NM_001329943.3(KIAA0586):c.4429+11T>A GRCh37: Chr14:58979356 GRCh38: Chr14:58512638	KIAA0586		Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 241993719.	NM_001329943.3(KIAA0586):c.3144+20C>G GRCh37: Chr14:58949450 GRCh38: Chr14:58482732	KIAA0586		Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Likely benign (Jun 2, 2022)	criteria provided, single submitter
Select item 241981620.	NM_001329943.3(KIAA0586):c.492G>A (p.Gln164=) GRCh37: Chr14:58909505 GRCh38: Chr14:58442787	KIAA0586		Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Likely benign (Aug 1, 2022)	criteria provided, single submitter
Select item 241834621.	NM_001329943.3(KIAA0586):c.3304+5A>C GRCh37: Chr14:58953889 GRCh38: Chr14:58487171	KIAA0586		Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 241730422.	NM_001329943.3(KIAA0586):c.3152T>C (p.Val1051Ala) GRCh37: Chr14:58953732 GRCh38: Chr14:58487014	KIAA0586	V1007A, V1036A, V1051A, V1104A, V911A, V966A, V975A	Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 241684623.	NM_001329943.3(KIAA0586):c.138A>G (p.Ala46=) GRCh37: Chr14:58895120 GRCh38: Chr14:58428402	KIAA0586		Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23	Likely benign (May 16, 2022)	criteria provided, single submitter
Select item 241629324.	NM_001329943.3(KIAA0586):c.1254-12A>G GRCh37: Chr14:58923408 GRCh38: Chr14:58456690	KIAA0586		Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 241547725.	NM_001329943.3(KIAA0586):c.807+1G>T GRCh37: Chr14:58910894 GRCh38: Chr14:58444176	KIAA0586		Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Likely pathogenic (Apr 6, 2022)	criteria provided, single submitter
Select item 241535426.	NM_001329943.3(KIAA0586):c.3129T>C (p.Asn1043=) GRCh37: Chr14:58949415 GRCh38: Chr14:58482697	KIAA0586		Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 241459727.	NM_001329943.3(KIAA0586):c.2557C>T (p.Pro853Ser) GRCh37: Chr14:58938920 GRCh38: Chr14:58472202	KIAA0586	P713S, P768S, P777S, P809S, P838S, P853S, P906S	Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 220319228.	NM_001329943.3(KIAA0586):c.3886G>A (p.Val1296Met) GRCh37: Chr14:58958889 GRCh38: Chr14:58492171	KIAA0586	V1281M, V1349M, V1211M, V1252M, V1296M, V1156M, V1220M	Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 220116729.	NM_001329943.3(KIAA0586):c.1583+17A>G GRCh37: Chr14:58924714 GRCh38: Chr14:58457996	KIAA0586		Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Likely benign (Jun 26, 2022)	criteria provided, single submitter
Select item 220084530.	NM_001329943.3(KIAA0586):c.3808A>G (p.Thr1270Ala) GRCh37: Chr14:58956908 GRCh38: Chr14:58490190	KIAA0586	T1323A, T1185A, T1255A, T1270A, T1130A, T1194A, T1226A	Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 220051831.	NM_001329943.3(KIAA0586):c.213_270+11dup GRCh37: Chr14:58896093-58896094 GRCh38: Chr14:58429375-58429376	KIAA0586		Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23	Uncertain significance (Sep 19, 2022)	criteria provided, single submitter
Select item 220039232.	NM_001329943.3(KIAA0586):c.3326T>C (p.Met1109Thr) GRCh37: Chr14:58954626 GRCh38: Chr14:58487908	KIAA0586	M1033T, M1065T, M969T, M1094T, M1162T, M1024T, M1109T	Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Uncertain significance (May 9, 2022)	criteria provided, single submitter
Select item 220016033.	NM_001329943.3(KIAA0586):c.1512C>A (p.Asn504Lys) GRCh37: Chr14:58924626 GRCh38: Chr14:58457908	KIAA0586	N557K, N460K, N364K, N419K, N489K, N504K	Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 220013434.	NM_001329943.3(KIAA0586):c.3305-17T>A GRCh37: Chr14:58954588 GRCh38: Chr14:58487870	KIAA0586		Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 220013335.	NM_001329943.3(KIAA0586):c.3305-18_3305-17insA GRCh37: Chr14:58954587-58954588 GRCh38: Chr14:58487869-58487870	KIAA0586		Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 220003036.	NM_001329943.3(KIAA0586):c.341-17G>C GRCh37: Chr14:58899089 GRCh38: Chr14:58432371	KIAA0586		Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Likely benign (Aug 1, 2022)	criteria provided, single submitter
Select item 219929837.	NM_001329943.3(KIAA0586):c.1362+17C>T GRCh37: Chr14:58923545 GRCh38: Chr14:58456827	KIAA0586		Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 219884338.	NM_001329943.3(KIAA0586):c.1638T>C (p.Thr546=) GRCh37: Chr14:58925245 GRCh38: Chr14:58458527	KIAA0586		Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 219853039.	NM_001329943.3(KIAA0586):c.4495+3737T>G GRCh37: Chr14:59010591 GRCh38: Chr14:58543873	KIAA0586		Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 219752640.	NM_001329943.3(KIAA0586):c.768G>T (p.Arg256Ser) GRCh37: Chr14:58910854 GRCh38: Chr14:58444136	KIAA0586	R116S, R309S, R171S, R212S, R241S, R256S	Inborn genetic diseases, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219645741.	NM_001329943.3(KIAA0586):c.658C>T (p.His220Tyr) GRCh37: Chr14:58910744 GRCh38: Chr14:58444026	KIAA0586	H205Y, H80Y, H176Y, H220Y, H135Y, H273Y	Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 219575642.	NM_001329943.3(KIAA0586):c.1852C>G (p.Pro618Ala) GRCh37: Chr14:58926756 GRCh38: Chr14:58460038	KIAA0586	P603A, P478A, P574A, P533A, P618A, P671A	Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 219540343.	NM_001329943.3(KIAA0586):c.2476A>G (p.Asn826Asp) GRCh37: Chr14:58937364 GRCh38: Chr14:58470646	KIAA0586	N741D, N782D, N826D, N686D, N750D, N811D, N879D	Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 219434044.	NM_001329943.3(KIAA0586):c.456A>G (p.Leu152=) GRCh37: Chr14:58909469 GRCh38: Chr14:58442751	KIAA0586		Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23	Likely benign (Jan 19, 2022)	criteria provided, single submitter
Select item 219355045.	NM_001329943.3(KIAA0586):c.1099A>C (p.Lys367Gln) GRCh37: Chr14:58917434 GRCh38: Chr14:58450716	KIAA0586	K227Q, K352Q, K420Q, K282Q, K323Q, K367Q	Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Uncertain significance (Apr 9, 2022)	criteria provided, single submitter
Select item 219150246.	NM_001329943.3(KIAA0586):c.3821A>G (p.Asp1274Gly) GRCh37: Chr14:58956921 GRCh38: Chr14:58490203	KIAA0586	D1274G, D1327G, D1230G, D1198G, D1134G, D1189G, D1259G	Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 219020347.	NM_001329943.3(KIAA0586):c.4495+3797T>C GRCh37: Chr14:59010651 GRCh38: Chr14:58543933	KIAA0586	W1516R, W1569R	Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 218850448.	NM_001329943.3(KIAA0586):c.1578C>T (p.Thr526=) GRCh37: Chr14:58924692 GRCh38: Chr14:58457974	KIAA0586		Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23	Likely benign (Feb 19, 2022)	criteria provided, single submitter
Select item 218809649.	NM_001329943.3(KIAA0586):c.447A>G (p.Val149=) GRCh37: Chr14:58909460 GRCh38: Chr14:58442742	KIAA0586		Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 218760550.	NM_001329943.3(KIAA0586):c.1253+19A>C GRCh37: Chr14:58920210 GRCh38: Chr14:58453492	KIAA0586		Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 218564051.	NM_001329943.3(KIAA0586):c.3574C>T (p.Pro1192Ser) GRCh37: Chr14:58955385 GRCh38: Chr14:58488667	KIAA0586	P1107S, P1177S, P1116S, P1148S, P1052S, P1192S, P1245S	Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 218559852.	NM_001329943.3(KIAA0586):c.2461A>G (p.Ile821Val) GRCh37: Chr14:58937349 GRCh38: Chr14:58470631	KIAA0586	I681V, I821V, I874V, I736V, I745V, I777V, I806V	Inborn genetic diseases, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Uncertain significance (Feb 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 218550653.	NM_001329943.3(KIAA0586):c.2380C>T (p.Pro794Ser) GRCh37: Chr14:58934578 GRCh38: Chr14:58467860	KIAA0586	P794S, P709S, P779S, P654S, P718S, P750S, P847S	Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23	Uncertain significance (Jun 30, 2022)	criteria provided, single submitter
Select item 218319654.	NM_001329943.3(KIAA0586):c.411-1427A>G GRCh37: Chr14:58907997 GRCh38: Chr14:58441279	KIAA0586	S169G, S72G	Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23	Uncertain significance (Mar 25, 2022)	criteria provided, single submitter
Select item 218259355.	NM_001329943.3(KIAA0586):c.3562A>T (p.Ser1188Cys) GRCh37: Chr14:58955373 GRCh38: Chr14:58488655	KIAA0586	S1048C, S1103C, S1112C, S1173C, S1188C, S1144C, S1241C	Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 218119756.	NM_001329943.3(KIAA0586):c.2164G>A (p.Asp722Asn) GRCh37: Chr14:58932657 GRCh38: Chr14:58465939	KIAA0586	D582N, D678N, D646N, D775N, D707N, D637N, D722N	Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 218103757.	NM_001329943.3(KIAA0586):c.1593A>G (p.Ser531=) GRCh37: Chr14:58925200 GRCh38: Chr14:58458482	KIAA0586		Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 218095558.	NM_001329943.3(KIAA0586):c.1362+10G>T GRCh37: Chr14:58923538 GRCh38: Chr14:58456820	KIAA0586		Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Likely benign (Aug 2, 2022)	criteria provided, single submitter
Select item 218019859.	NM_001329943.3(KIAA0586):c.666A>G (p.Gln222=) GRCh37: Chr14:58910752 GRCh38: Chr14:58444034	KIAA0586		Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Uncertain significance (Jan 2, 2022)	criteria provided, single submitter
Select item 217867460.	NM_001329943.3(KIAA0586):c.2758C>G (p.Pro920Ala) GRCh37: Chr14:58941448 GRCh38: Chr14:58474730	KIAA0586	P844A, P876A, P973A, P835A, P905A, P920A, P780A	Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Uncertain significance (Apr 22, 2022)	criteria provided, single submitter
Select item 217858961.	NM_001329943.3(KIAA0586):c.1884+1G>T GRCh37: Chr14:58926789 GRCh38: Chr14:58460071	KIAA0586		Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23	Likely pathogenic (Sep 7, 2022)	criteria provided, single submitter
Select item 217694462.	NM_001329943.3(KIAA0586):c.2061C>G (p.Gly687=) GRCh37: Chr14:58932554 GRCh38: Chr14:58465836	KIAA0586		Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Likely benign (May 3, 2022)	criteria provided, single submitter
Select item 217686963.	NM_001329943.3(KIAA0586):c.1130-18A>G GRCh37: Chr14:58920050 GRCh38: Chr14:58453332	KIAA0586		Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 217599064.	NM_001329943.3(KIAA0586):c.3990G>A (p.Glu1330=) GRCh37: Chr14:58958993 GRCh38: Chr14:58492275	KIAA0586		Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Uncertain significance (Apr 13, 2022)	criteria provided, single submitter
Select item 217516265.	NM_001329943.3(KIAA0586):c.4562C>T (p.Ser1521Leu) GRCh37: Chr14:59014565 GRCh38: Chr14:58547847	KIAA0586	S1477L, S1414L, S1436L, S1499L, S1506L, S1445L, S1521L	Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Likely benign (May 13, 2022)	criteria provided, single submitter
Select item 217447266.	NM_001329943.3(KIAA0586):c.586-17T>C GRCh37: Chr14:58910655 GRCh38: Chr14:58443937	KIAA0586		Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 217411967.	NM_001329943.3(KIAA0586):c.411-12T>G GRCh37: Chr14:58909412 GRCh38: Chr14:58442694	KIAA0586		Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 217262668.	NM_001329943.3(KIAA0586):c.1885-15A>T GRCh37: Chr14:58927689 GRCh38: Chr14:58460971	KIAA0586		Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 217155769.	NM_001329943.3(KIAA0586):c.3716C>T (p.Thr1239Ile) GRCh37: Chr14:58955527 GRCh38: Chr14:58488809	KIAA0586	T1154I, T1099I, T1224I, T1239I, T1163I, T1292I, T1195I	Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Uncertain significance (Feb 13, 2022)	criteria provided, single submitter
Select item 217129570.	NM_001329943.3(KIAA0586):c.1130G>A (p.Gly377Glu) GRCh37: Chr14:58920068 GRCh38: Chr14:58453350	KIAA0586	G237E, G333E, G430E, G377E, G292E, G362E	Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 217115371.	NM_001329943.3(KIAA0586):c.4518C>T (p.Ser1506=) GRCh37: Chr14:59014521 GRCh38: Chr14:58547803	KIAA0586	R1535C, R1588C	Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 216884272.	NM_001329943.3(KIAA0586):c.3341dup (p.Thr1115fs) GRCh37: Chr14:58954639-58954640 GRCh38: Chr14:58487921-58487922	KIAA0586	T1071fs, T1168fs, T1039fs, T1115fs, T1030fs, T1100fs, T975fs	Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Pathogenic (Apr 29, 2022)	criteria provided, single submitter
Select item 216883573.	NM_001329943.3(KIAA0586):c.3018A>G (p.Lys1006=) GRCh37: Chr14:58949304 GRCh38: Chr14:58482586	KIAA0586		Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Likely benign (Jul 2, 2022)	criteria provided, single submitter
Select item 216827774.	NM_001329943.3(KIAA0586):c.2239A>G (p.Met747Val) GRCh37: Chr14:58932732 GRCh38: Chr14:58466014	KIAA0586	M607V, M800V, M747V, M662V, M732V, M671V, M703V	Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 216612675.	NM_001329943.3(KIAA0586):c.3589C>T (p.Pro1197Ser) GRCh37: Chr14:58955400 GRCh38: Chr14:58488682	KIAA0586	P1112S, P1153S, P1121S, P1182S, P1197S, P1250S, P1057S	Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 216517776.	NM_001329943.3(KIAA0586):c.4495+4A>G GRCh37: Chr14:59006858 GRCh38: Chr14:58540140	KIAA0586		Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 216468477.	NM_001329943.3(KIAA0586):c.2413A>G (p.Lys805Glu) GRCh37: Chr14:58934611 GRCh38: Chr14:58467893	KIAA0586	K790E, K805E, K761E, K858E, K665E, K720E, K729E	Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 216250778.	NM_001329943.3(KIAA0586):c.2556T>G (p.Thr852=) GRCh37: Chr14:58938919 GRCh38: Chr14:58472201	KIAA0586		Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23	Likely benign (Apr 21, 2022)	criteria provided, single submitter
Select item 216214979.	NM_001329943.3(KIAA0586):c.1332A>G (p.Gln444=) GRCh37: Chr14:58923498 GRCh38: Chr14:58456780	KIAA0586		Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23	Likely benign (Jun 23, 2022)	criteria provided, single submitter
Select item 216154480.	NM_001329943.3(KIAA0586):c.3564T>C (p.Ser1188=) GRCh37: Chr14:58955375 GRCh38: Chr14:58488657	KIAA0586		Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 216133381.	NM_001329943.3(KIAA0586):c.4208_4209del (p.Met1403fs) GRCh37: Chr14:58975312-58975313 GRCh38: Chr14:58508594-58508595	KIAA0586	M1456fs, M1359fs, M1388fs, M1403fs, M1327fs, M1263fs, M1318fs	Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Pathogenic (Sep 27, 2022)	criteria provided, single submitter
Select item 216133282.	NM_001329943.3(KIAA0586):c.4205C>A (p.Pro1402Gln) GRCh37: Chr14:58975309 GRCh38: Chr14:58508591	KIAA0586	P1387Q, P1402Q, P1455Q, P1262Q, P1317Q, P1326Q, P1358Q	Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 216114683.	NM_001329943.3(KIAA0586):c.2945-4T>C GRCh37: Chr14:58949227 GRCh38: Chr14:58482509	KIAA0586		Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 216100684.	NM_001329943.3(KIAA0586):c.2443-14G>A GRCh37: Chr14:58937317 GRCh38: Chr14:58470599	KIAA0586		Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Likely benign (Sep 4, 2022)	criteria provided, single submitter
Select item 216065785.	NM_001329943.3(KIAA0586):c.1989A>G (p.Pro663=) GRCh37: Chr14:58927808 GRCh38: Chr14:58461090	KIAA0586		Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 215950086.	NM_001329943.3(KIAA0586):c.468C>G (p.Gly156=) GRCh37: Chr14:58909481 GRCh38: Chr14:58442763	KIAA0586		Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23	Likely benign (Jul 10, 2022)	criteria provided, single submitter
Select item 215902287.	NM_001329943.3(KIAA0586):c.3322A>G (p.Ile1108Val) GRCh37: Chr14:58954622 GRCh38: Chr14:58487904	KIAA0586	I1093V, I968V, I1023V, I1032V, I1064V, I1108V, I1161V	Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 215836088.	NM_001329943.3(KIAA0586):c.3378G>A (p.Ala1126=) GRCh37: Chr14:58954678 GRCh38: Chr14:58487960	KIAA0586		Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 215835089.	NM_001329943.3(KIAA0586):c.2749A>G (p.Thr917Ala) GRCh37: Chr14:58941439 GRCh38: Chr14:58474721	KIAA0586	T970A, T841A, T873A, T777A, T832A, T902A, T917A	Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 215814590.	NM_001329943.3(KIAA0586):c.586G>T (p.Val196Leu) GRCh37: Chr14:58910672 GRCh38: Chr14:58443954	KIAA0586	V111L, V181L, V196L, V249L, V56L, V152L	Inborn genetic diseases, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Uncertain significance (Jul 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 215776491.	NM_001329943.3(KIAA0586):c.199+15G>A GRCh37: Chr14:58895196 GRCh38: Chr14:58428478	KIAA0586		Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 215776092.	NM_001329943.3(KIAA0586):c.2885T>C (p.Ile962Thr) GRCh37: Chr14:58943900 GRCh38: Chr14:58477182	KIAA0586	I822T, I886T, I918T, I947T, I962T, I1015T, I877T	Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 215687193.	NM_001329943.3(KIAA0586):c.1487A>G (p.Asn496Ser) GRCh37: Chr14:58924601 GRCh38: Chr14:58457883	KIAA0586	N411S, N452S, N356S, N481S, N496S, N549S	Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 215650694.	NM_001329943.3(KIAA0586):c.4644C>G (p.Phe1548Leu) GRCh37: Chr14:59014647 GRCh38: Chr14:58547929	KIAA0586	F1472L, F1504L, L1630V, F1533L, F1441L, F1463L, F1548L, L1577V, F1526L	Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Uncertain significance (Apr 18, 2022)	criteria provided, single submitter
Select item 215555395.	NM_001329943.3(KIAA0586):c.1501C>T (p.Leu501Phe) GRCh37: Chr14:58924615 GRCh38: Chr14:58457897	KIAA0586	L486F, L361F, L501F, L457F, L416F, L554F	Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 215544196.	NM_001329943.3(KIAA0586):c.2977T>C (p.Phe993Leu) GRCh37: Chr14:58949263 GRCh38: Chr14:58482545	KIAA0586	F917L, F978L, F1046L, F853L, F949L, F993L, F908L	Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Uncertain significance (Mar 9, 2022)	criteria provided, single submitter
Select item 215541897.	NM_001329943.3(KIAA0586):c.2362G>A (p.Glu788Lys) GRCh37: Chr14:58934560 GRCh38: Chr14:58467842	KIAA0586	E648K, E744K, E712K, E773K, E788K, E841K, E703K	Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 215393898.	NM_001329943.3(KIAA0586):c.3598C>G (p.Pro1200Ala) GRCh37: Chr14:58955409 GRCh38: Chr14:58488691	KIAA0586	P1124A, P1156A, P1060A, P1253A, P1115A, P1185A, P1200A	Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Uncertain significance (Apr 6, 2022)	criteria provided, single submitter
Select item 215300599.	NM_001329943.3(KIAA0586):c.3528-16G>A GRCh37: Chr14:58955323 GRCh38: Chr14:58488605	KIAA0586		Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 2153004100.	NM_001329943.3(KIAA0586):c.3145-8T>C GRCh37: Chr14:58953717 GRCh38: Chr14:58486999	KIAA0586		Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly	Likely benign (Sep 7, 2022)	criteria provided, single submitter

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