22941[geneid] - ClinVar - NCBI

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

Result Filters

Search results

Items: 1 to 100 of 263

<< First< Prev

Page of 3

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1539411.	GRCh38/hg38 11q13.2-13.4(chr11:68031693-71593495)x1 GRCh37: Chr11:67799160-71304541 GRCh38: Chr11:68031693-71593495	LOC126861244, LOC126861245, LOC126861246, LOC126861247, LOC126861248, LOC126861249, LOC126861250, LOC126861251, LOC126861252, LOC126861253, LOC126861254, LOC126861255, LOC126861256, LOC128772347, LOC128772348, LOC128772349, LOC128772350, LOC128772351, LOC128772352, LOC128772353, LOC338694, LRP5, LTO1, MIR3164, MIR3664, MIR4691, MIR548K, MIR6753, MIR6754, MIR7113, MRGPRD, MRGPRF, MRGPRF-AS1, MRPL21, MYEOV, NADSYN1, NDUFS8, PPFIA1, PPP6R3, SHANK2, SHANK2-AS1, SHANK2-AS3, SMIM38, TCIRG1, TESMIN, TPCN2, ACTE1P, ANO1, C11orf24, CCND1, CHKA, CHKA-DT, CPT1A, CTTN, CTTN-DT, DHCR7, FADD, FGF19, FGF3, FGF4, GAL, IGHMBP2, KMT5B, KRTAP5-10, KRTAP5-11, KRTAP5-7, KRTAP5-8, KRTAP5-9, LINC01488, LINC02584, LINC02747, LINC02753, LINC02953, LOC107984355, LOC109115964, LOC109117330, LOC109117331, LOC109245078, LOC109245079, LOC110121462, LOC110121479, LOC111413018, LOC111501772, LOC112081415, LOC112081416, LOC112136078, LOC113939929, LOC116216149, LOC116216150, LOC121392925, LOC121392926, LOC121832796, LOC121832797, LOC121832798, LOC124500679, LOC124500680, LOC124500681, LOC124500682, LOC124500683, LOC126861243		See cases	Likely pathogenic (Jul 18, 2014)	no assertion criteria provided
Select item 3058812.	NM_012309.5(SHANK2):c.*4377A>T GRCh37: Chr11:70314597 GRCh38: Chr11:70468492	SHANK2		Autism spectrum disorder	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 3058823.	NM_012309.5(SHANK2):c.*4102C>G GRCh37: Chr11:70314872 GRCh38: Chr11:70468767	SHANK2		Autism spectrum disorder	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 3058834.	NM_012309.5(SHANK2):c.*4029A>C GRCh37: Chr11:70314945 GRCh38: Chr11:70468840	SHANK2		Autism spectrum disorder	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3058845.	NM_012309.5(SHANK2):c.*3947C>G GRCh37: Chr11:70315027 GRCh38: Chr11:70468922	SHANK2		Autism spectrum disorder	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3058856.	NM_012309.5(SHANK2):c.*3475C>G GRCh37: Chr11:70315499 GRCh38: Chr11:70469394	SHANK2		Autism spectrum disorder	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3058867.	NM_012309.5(SHANK2):c.*3246G>A GRCh37: Chr11:70315728 GRCh38: Chr11:70469623	SHANK2		Autism spectrum disorder	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3058878.	NM_012309.5(SHANK2):c.*3245T>C GRCh37: Chr11:70315729 GRCh38: Chr11:70469624	SHANK2		Autism spectrum disorder	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3058889.	NM_012309.5(SHANK2):c.*3067A>G GRCh37: Chr11:70315907 GRCh38: Chr11:70469802	SHANK2		Autism spectrum disorder	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30588910.	NM_012309.5(SHANK2):c.*2583T>C GRCh37: Chr11:70316391 GRCh38: Chr11:70470286	SHANK2		Autism spectrum disorder	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 30589011.	NM_012309.5(SHANK2):c.*1597T>G GRCh37: Chr11:70317377 GRCh38: Chr11:70471272	SHANK2		Autism spectrum disorder	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 30589112.	NM_012309.5(SHANK2):c.*1545T>G GRCh37: Chr11:70317429 GRCh38: Chr11:70471324	SHANK2		Autism spectrum disorder	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30589213.	NM_012309.5(SHANK2):c.*1533dup GRCh37: Chr11:70317440-70317441 GRCh38: Chr11:70471335-70471336	SHANK2		Autism spectrum disorder	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30589314.	NM_012309.5(SHANK2):c.*1022T>C GRCh37: Chr11:70317952 GRCh38: Chr11:70471847	SHANK2		Autism spectrum disorder	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30589415.	NM_012309.5(SHANK2):c.*591C>A GRCh37: Chr11:70318383 GRCh38: Chr11:70472278	SHANK2		Autism spectrum disorder	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30589516.	NM_012309.5(SHANK2):c.*585C>T GRCh37: Chr11:70318389 GRCh38: Chr11:70472284	SHANK2		Autism spectrum disorder	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 13030517.	NM_012309.5(SHANK2):c.5494C>T (p.Arg1832Ter) GRCh37: Chr11:70319030 GRCh38: Chr11:70472925	SHANK2	R1244, R1832, R1453*	not provided	Uncertain significance (Mar 17, 2014)	criteria provided, single submitter
Select item 21217218.	NM_012309.5(SHANK2):c.5475C>T (p.Leu1825=) GRCh37: Chr11:70319049 GRCh38: Chr11:70472944	SHANK2		not specified	Uncertain significance (Jun 1, 2015)	criteria provided, single submitter
Select item 227178219.	NM_012309.5(SHANK2):c.5471dup (p.Asp1824fs) GRCh37: Chr11:70319052-70319053 GRCh38: Chr11:70472947-70472948	SHANK2	D1445fs, D1824fs, D1236fs	Inborn genetic diseases	Uncertain significance (Jan 25, 2022)	criteria provided, single submitter
Select item 133827720.	NM_012309.5(SHANK2):c.5449_5452del (p.Leu1817fs) GRCh37: Chr11:70319072-70319075 GRCh38: Chr11:70472967-70472970	SHANK2	L1229fs, L1438fs, L1817fs	not specified	Uncertain significance (Sep 13, 2017)	criteria provided, single submitter
Select item 133615521.	NM_012309.5(SHANK2):c.5376C>T (p.Ala1792=) GRCh37: Chr11:70319148 GRCh38: Chr11:70473043	SHANK2		not specified	Likely benign (Aug 3, 2017)	criteria provided, single submitter
Select item 133648222.	NM_012309.5(SHANK2):c.5317A>G (p.Ile1773Val) GRCh37: Chr11:70319207 GRCh38: Chr11:70473102	SHANK2	I1185V, I1394V, I1773V	not specified	Uncertain significance (Jan 31, 2018)	criteria provided, single submitter
Select item 180307023.	NM_012309.5(SHANK2):c.5176_5177del (p.Leu1726fs) GRCh37: Chr11:70319347-70319348 GRCh38: Chr11:70473242-70473243	SHANK2	L1138fs, L1347fs, L1726fs	Autism, susceptibility to, 17	Likely pathogenic (Feb 3, 2022)	criteria provided, single submitter
Select item 21217024.	NM_012309.5(SHANK2):c.5151G>A (p.Met1717Ile) GRCh37: Chr11:70319373 GRCh38: Chr11:70473268	SHANK2	M1129I, M1717I, M1338I	not specified, not provided	Benign (Apr 28, 2020)	criteria provided, multiple submitters, no conflicts
Select item 72352625.	NM_012309.5(SHANK2):c.5025G>A (p.Thr1675=) GRCh37: Chr11:70319499 GRCh38: Chr11:70473394	SHANK2		Autism, susceptibility to, 17, not provided	Benign/Likely benign (Apr 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21216926.	NM_012309.5(SHANK2):c.5021C>T (p.Thr1674Met) GRCh37: Chr11:70319503 GRCh38: Chr11:70473398	SHANK2	T1086M, T1674M, T1295M	not specified, not provided	Benign/Likely benign (Apr 13, 2018)	criteria provided, multiple submitters, no conflicts
Select item 170117327.	NM_012309.5(SHANK2):c.5008_5010delinsTGGA (p.Gly1670fs) GRCh37: Chr11:70319514-70319516 GRCh38: Chr11:70473409-70473411	SHANK2	G1082fs, G1291fs, G1670fs	not provided	Uncertain significance (Apr 1, 2019)	criteria provided, single submitter
Select item 242190528.	NM_012309.5(SHANK2):c.4994T>C (p.Met1665Thr) GRCh37: Chr11:70319530 GRCh38: Chr11:70473425	SHANK2	M1077T, M1286T, M1665T	not provided	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 21216829.	NM_012309.5(SHANK2):c.4991T>C (p.Ile1664Thr) GRCh37: Chr11:70319533 GRCh38: Chr11:70473428	SHANK2	I1076T, I1664T, I1285T	not specified, not provided, Autism, susceptibility to, 17	Benign/Likely benign (Dec 31, 2019)	criteria provided, multiple submitters, no conflicts
Select item 169089030.	NM_012309.5(SHANK2):c.4985_4986del (p.Pro1662fs) GRCh37: Chr11:70319538-70319539 GRCh38: Chr11:70473433-70473434	SHANK2	P1074fs, P1283fs, P1662fs	See cases	Likely pathogenic (Jun 1, 2020)	criteria provided, single submitter
Select item 38592331.	NM_012309.5(SHANK2):c.4986G>A (p.Pro1662=) GRCh37: Chr11:70319538 GRCh38: Chr11:70473433	SHANK2		not specified	Likely benign (May 2, 2016)	criteria provided, single submitter
Select item 91614932.	NM_012309.5(SHANK2):c.4979+5G>C GRCh37: Chr11:70331414 GRCh38: Chr11:70485309	SHANK2		not provided	Uncertain significance (Feb 1, 2020)	criteria provided, single submitter
Select item 169893633.	NM_012309.5(SHANK2):c.4930G>T (p.Glu1644Ter) GRCh37: Chr11:70331468 GRCh38: Chr11:70485363	SHANK2	E1056, E1265, E1644*	Global developmental delay	Pathogenic (Jul 5, 2022)	criteria provided, single submitter
Select item 21216734.	NM_012309.5(SHANK2):c.4926G>A (p.Pro1642=) GRCh37: Chr11:70331472 GRCh38: Chr11:70485367	SHANK2		not specified, not provided	Conflicting interpretations of pathogenicity (Jul 9, 2018)	criteria provided, conflicting interpretations
Select item 133022835.	NM_012309.5(SHANK2):c.4925C>T (p.Pro1642Leu) GRCh37: Chr11:70331473 GRCh38: Chr11:70485368	SHANK2	P1054L, P1263L, P1642L	Autism, susceptibility to, 17	Uncertain significance (Aug 18, 2021)	criteria provided, single submitter
Select item 62050336.	NM_012309.5(SHANK2):c.4906C>T (p.Arg1636Ter) GRCh37: Chr11:70331492 GRCh38: Chr11:70485387	SHANK2	R1636, R1048, R1257*	Autism spectrum disorder, not provided	Uncertain significance (Sep 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43671237.	NM_012309.5(SHANK2):c.4822G>A (p.Val1608Ile) GRCh37: Chr11:70331576 GRCh38: Chr11:70485471	SHANK2	V1020I, V1608I, V1229I	not specified, Autism, susceptibility to, 17	Likely benign (Sep 27, 2017)	criteria provided, multiple submitters, no conflicts
Select item 75445838.	NM_012309.5(SHANK2):c.4793A>G (p.Gln1598Arg) GRCh37: Chr11:70331605 GRCh38: Chr11:70485500	SHANK2	Q1010R, Q1598R, Q1219R	not provided	Likely benign (Jul 23, 2018)	criteria provided, single submitter
Select item 235058939.	NM_012309.5(SHANK2):c.4780G>A (p.Ala1594Thr) GRCh37: Chr11:70331618 GRCh38: Chr11:70485513	SHANK2	A1006T, A1215T, A1594T	Inborn genetic diseases	Likely benign (Dec 16, 2021)	criteria provided, single submitter
Select item 95727240.	NM_012309.5(SHANK2):c.4740_4757del (p.Ala1581_Pro1586del) GRCh37: Chr11:70331641-70331658 GRCh38: Chr11:70485536-70485553	SHANK2		not provided	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 54668241.	NM_012309.5(SHANK2):c.4746CCCGCC[1] (p.Pro1585_Pro1586del) GRCh37: Chr11:70331641-70331646 GRCh38: Chr11:70485536-70485541	SHANK2		not provided	Uncertain significance (Mar 1, 2018)	criteria provided, single submitter
Select item 43671342.	NM_012309.5(SHANK2):c.4757C>T (p.Pro1586Leu) GRCh37: Chr11:70331641 GRCh38: Chr11:70485536	SHANK2	P1586L, P998L, P1207L	not specified	Likely benign (Nov 18, 2015)	criteria provided, single submitter
Select item 170821643.	NM_012309.5(SHANK2):c.4749_4753del (p.Pro1584fs) GRCh37: Chr11:70331645-70331649 GRCh38: Chr11:70485540-70485544	SHANK2	P1205fs, P1584fs, P996fs	Rare disease with autism	Pathogenic (Oct 4, 2022)	criteria provided, single submitter
Select item 223035244.	NM_012309.5(SHANK2):c.4696G>A (p.Ala1566Thr) GRCh37: Chr11:70331702 GRCh38: Chr11:70485597	SHANK2	A1187T, A1566T, A978T	Inborn genetic diseases	Uncertain significance (Apr 7, 2021)	criteria provided, single submitter
Select item 30589845.	NM_012309.5(SHANK2):c.4676G>A (p.Ser1559Asn) GRCh37: Chr11:70331722 GRCh38: Chr11:70485617	SHANK2	S1559N, S971N, S1180N	Autism spectrum disorder	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 180593346.	NM_012309.5(SHANK2):c.4635_4636delinsTAT (p.Val1546fs) GRCh37: Chr11:70331762-70331763 GRCh38: Chr11:70485657-70485658	SHANK2	V1167fs, V1546fs, V958fs	Autism, susceptibility to, 17	Pathogenic (Sep 2, 2022)	criteria provided, single submitter
Select item 58511547.	NM_012309.5(SHANK2):c.4592_4593del (p.Thr1531fs) GRCh37: Chr11:70331805-70331806 GRCh38: Chr11:70485700-70485701	SHANK2	T1531fs, T943fs, T1152fs	Schizophrenia, Intellectual disability, Autism spectrum disorder	not provided	no assertion provided
Select item 133666848.	NM_012309.5(SHANK2):c.4518G>A (p.Thr1506=) GRCh37: Chr11:70331880 GRCh38: Chr11:70485775	SHANK2		not specified	Likely benign (Apr 23, 2018)	criteria provided, single submitter
Select item 73894749.	NM_012309.5(SHANK2):c.4482G>A (p.Val1494=) GRCh37: Chr11:70331916 GRCh38: Chr11:70485811	SHANK2		not provided	Likely benign (Apr 5, 2018)	criteria provided, single submitter
Select item 13030450.	NM_012309.5(SHANK2):c.4461C>T (p.Ala1487=) GRCh37: Chr11:70331937 GRCh38: Chr11:70485832	SHANK2		not specified	Likely benign	no assertion criteria provided
Select item 133405551.	NM_012309.5(SHANK2):c.4456G>A (p.Val1486Ile) GRCh37: Chr11:70331942 GRCh38: Chr11:70485837	SHANK2	V1107I, V1486I, V898I	Autism, susceptibility to, 17	Uncertain significance (Nov 27, 2018)	criteria provided, single submitter
Select item 133507852.	NM_012309.5(SHANK2):c.4446_4447dup (p.Phe1483fs) GRCh37: Chr11:70331950-70331951 GRCh38: Chr11:70485845-70485846	SHANK2	F1104fs, F1483fs, F895fs	not provided	Uncertain significance (Nov 1, 2021)	criteria provided, single submitter
Select item 149854753.	NM_012309.5(SHANK2):c.4430T>G (p.Leu1477Arg) GRCh37: Chr11:70331968 GRCh38: Chr11:70485863	SHANK2	L1098R, L1477R, L889R	not provided	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 80671254.	NM_012309.5(SHANK2):c.4383C>A (p.Asp1461Glu) GRCh37: Chr11:70332015 GRCh38: Chr11:70485910	SHANK2	D1461E, D873E, D1082E	not provided	Uncertain significance (Nov 1, 2018)	criteria provided, single submitter
Select item 223044355.	NM_012309.5(SHANK2):c.4337C>T (p.Pro1446Leu) GRCh37: Chr11:70332061 GRCh38: Chr11:70485956	SHANK2	P858L, P1067L, P1446L	Inborn genetic diseases	Uncertain significance (Apr 21, 2021)	criteria provided, single submitter
Select item 73947456.	NM_012309.5(SHANK2):c.4313T>C (p.Val1438Ala) GRCh37: Chr11:70332085 GRCh38: Chr11:70485980	SHANK2	V850A, V1438A, V1059A	not provided, Autism, susceptibility to, 17	Conflicting interpretations of pathogenicity (Jun 5, 2018)	criteria provided, conflicting interpretations
Select item 56215057.	NM_012309.5(SHANK2):c.4304_4305del (p.Leu1434_Ser1435insTer) GRCh37: Chr11:70332093-70332094 GRCh38: Chr11:70485988-70485989	SHANK2		Autism spectrum disorder	Pathogenic (Aug 1, 2018)	criteria provided, single submitter
Select item 43671458.	NM_012309.5(SHANK2):c.4296G>A (p.Pro1432=) GRCh37: Chr11:70332102 GRCh38: Chr11:70485997	SHANK2		not specified	Uncertain significance (Oct 29, 2015)	criteria provided, single submitter
Select item 43670459.	NM_012309.5(SHANK2):c.4287T>C (p.Ala1429=) GRCh37: Chr11:70332111 GRCh38: Chr11:70486006	SHANK2		not provided, not specified	Likely benign (Jul 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 129985860.	NM_012309.5(SHANK2):c.4280G>A (p.Arg1427Gln) GRCh37: Chr11:70332118 GRCh38: Chr11:70486013	SHANK2	R1048Q, R1427Q, R839Q	not provided	Uncertain significance	no assertion criteria provided
Select item 43670561.	NM_012309.5(SHANK2):c.4272C>T (p.Pro1424=) GRCh37: Chr11:70332126 GRCh38: Chr11:70486021	SHANK2		not specified, not provided	Benign/Likely benign (Dec 31, 2019)	criteria provided, multiple submitters, no conflicts
Select item 72108162.	NM_012309.5(SHANK2):c.4231T>C (p.Leu1411=) GRCh37: Chr11:70332167 GRCh38: Chr11:70486062	SHANK2		not provided	Likely benign (May 8, 2018)	criteria provided, single submitter
Select item 30589963.	NM_012309.5(SHANK2):c.4228C>T (p.Pro1410Ser) GRCh37: Chr11:70332170 GRCh38: Chr11:70486065	SHANK2	P1410S, P822S, P1031S	Autism spectrum disorder	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 21216664.	NM_012309.5(SHANK2):c.4195G>A (p.Val1399Met) GRCh37: Chr11:70332203 GRCh38: Chr11:70486098	SHANK2	V1399M, V811M, V1020M	Inborn genetic diseases, not specified	Conflicting interpretations of pathogenicity (Dec 16, 2021)	criteria provided, conflicting interpretations
Select item 21216565.	NM_012309.5(SHANK2):c.4183C>T (p.Pro1395Ser) GRCh37: Chr11:70332215 GRCh38: Chr11:70486110	SHANK2	P1395S, P807S, P1016S	not specified	Likely benign (May 22, 2015)	criteria provided, single submitter
Select item 93253166.	NM_012309.5(SHANK2):c.4178C>T (p.Pro1393Leu) GRCh37: Chr11:70332220 GRCh38: Chr11:70486115	SHANK2	P1014L, P1393L, P805L	not provided	Uncertain significance (May 1, 2020)	criteria provided, single submitter
Select item 230933167.	NM_012309.5(SHANK2):c.4172T>G (p.Ile1391Ser) GRCh37: Chr11:70332226 GRCh38: Chr11:70486121	SHANK2	I803S, I1012S, I1391S	Inborn genetic diseases	Uncertain significance (Aug 30, 2022)	criteria provided, single submitter
Select item 169050168.	NM_012309.5(SHANK2):c.4168C>G (p.Arg1390Gly) GRCh37: Chr11:70332230 GRCh38: Chr11:70486125	SHANK2	R1011G, R1390G, R802G	See cases	Uncertain significance (Nov 29, 2021)	criteria provided, single submitter
Select item 43671569.	NM_012309.5(SHANK2):c.4161_4166dup (p.Leu1387_Pro1388dup) GRCh37: Chr11:70332231-70332232 GRCh38: Chr11:70486126-70486127	SHANK2		not specified	Benign (Jun 2, 2016)	criteria provided, single submitter
Select item 79291070.	NM_012309.5(SHANK2):c.4152G>A (p.Ala1384=) GRCh37: Chr11:70332246 GRCh38: Chr11:70486141	SHANK2		not provided	Benign (Oct 23, 2018)	criteria provided, single submitter
Select item 87079071.	NM_012309.5(SHANK2):c.4151del (p.Ala1384fs) GRCh37: Chr11:70332247 GRCh38: Chr11:70486142	SHANK2	A796fs, A1384fs, A1005fs	not provided	Likely pathogenic (Sep 1, 2019)	criteria provided, single submitter
Select item 21216472.	NM_012309.5(SHANK2):c.4130C>T (p.Ala1377Val) GRCh37: Chr11:70332268 GRCh38: Chr11:70486163	SHANK2	A1377V, A789V, A998V	not specified	Likely benign (May 22, 2015)	criteria provided, single submitter
Select item 67769173.	NM_012309.5(SHANK2):c.4125C>T (p.Ile1375=) GRCh37: Chr11:70332273 GRCh38: Chr11:70486168	SHANK2		not provided	Likely benign (Jan 28, 2016)	criteria provided, single submitter
Select item 101280774.	NM_012309.5(SHANK2):c.4104C>T (p.Thr1368=) GRCh37: Chr11:70332294 GRCh38: Chr11:70486189	SHANK2		not provided	Likely benign (Dec 1, 2020)	criteria provided, single submitter
Select item 223819775.	NM_012309.5(SHANK2):c.4087G>A (p.Ala1363Thr) GRCh37: Chr11:70332311 GRCh38: Chr11:70486206	SHANK2	A1363T, A775T, A984T	Inborn genetic diseases	Uncertain significance (Aug 10, 2021)	criteria provided, single submitter
Select item 169047976.	NM_012309.5(SHANK2):c.4066G>A (p.Glu1356Lys) GRCh37: Chr11:70332332 GRCh38: Chr11:70486227	SHANK2	E1356K, E768K, E977K	See cases	Uncertain significance (Oct 19, 2021)	criteria provided, single submitter
Select item 21216377.	NM_012309.5(SHANK2):c.3960C>T (p.Asp1320=) GRCh37: Chr11:70332438 GRCh38: Chr11:70486333	SHANK2		not specified	Uncertain significance (Oct 1, 2014)	criteria provided, single submitter
Select item 21216278.	NM_012309.5(SHANK2):c.3888G>A (p.Lys1296=) GRCh37: Chr11:70332510 GRCh38: Chr11:70486405	SHANK2		not specified	Uncertain significance (Jan 29, 2015)	criteria provided, single submitter
Select item 80671379.	NM_012309.5(SHANK2):c.3871A>C (p.Lys1291Gln) GRCh37: Chr11:70332527 GRCh38: Chr11:70486422	SHANK2	K1291Q, K703Q, K912Q	not provided	Uncertain significance (Nov 1, 2018)	criteria provided, single submitter
Select item 227178180.	NM_012309.5(SHANK2):c.3851C>G (p.Thr1284Ser) GRCh37: Chr11:70332547 GRCh38: Chr11:70486442	SHANK2	T696S, T905S, T1284S	Inborn genetic diseases	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 242923481.	NM_012309.5(SHANK2):c.3707G>T (p.Gly1236Val) GRCh37: Chr11:70332691 GRCh38: Chr11:70486586	SHANK2	G1236V, G648V, G857V	not specified	Uncertain significance (Jan 31, 2023)	criteria provided, single submitter
Select item 56022982.	NM_012309.5(SHANK2):c.3704A>G (p.Lys1235Arg) GRCh37: Chr11:70332694 GRCh38: Chr11:70486589	SHANK2	K1235R, K647R, K856R	Autism, susceptibility to, 17	Uncertain significance (Jul 25, 2017)	criteria provided, single submitter
Select item 223621683.	NM_012309.5(SHANK2):c.3547G>A (p.Glu1183Lys) GRCh37: Chr11:70332851 GRCh38: Chr11:70486746	SHANK2	E1183K, E804K, E595K	Inborn genetic diseases	Uncertain significance (Jul 23, 2021)	criteria provided, single submitter
Select item 226304584.	NM_012309.5(SHANK2):c.3542G>A (p.Gly1181Glu) GRCh37: Chr11:70332856 GRCh38: Chr11:70486751	SHANK2	G802E, G1181E, G593E	Inborn genetic diseases	Uncertain significance (Dec 28, 2021)	criteria provided, single submitter
Select item 93253285.	NM_012309.5(SHANK2):c.3541G>A (p.Gly1181Arg) GRCh37: Chr11:70332857 GRCh38: Chr11:70486752	SHANK2	G1181R, G593R, G802R	not provided	Uncertain significance (Mar 1, 2021)	criteria provided, single submitter
Select item 134579086.	NM_012309.5(SHANK2):c.3508G>A (p.Gly1170Arg) GRCh37: Chr11:70332890 GRCh38: Chr11:70486785	SHANK2	G582R, G791R, G1170R	not provided	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 62003487.	NM_012309.5(SHANK2):c.3454dup (p.Glu1152fs) GRCh37: Chr11:70332943-70332944 GRCh38: Chr11:70486838-70486839	SHANK2	E1152fs, E564fs, E773fs	Autism, susceptibility to, 17	Uncertain significance	criteria provided, single submitter
Select item 73929988.	NM_012309.5(SHANK2):c.3447G>A (p.Thr1149=) GRCh37: Chr11:70332951 GRCh38: Chr11:70486846	SHANK2		not provided	Benign (May 18, 2018)	criteria provided, single submitter
Select item 243003489.	NM_012309.5(SHANK2):c.3382G>C (p.Glu1128Gln) GRCh37: Chr11:70333016 GRCh38: Chr11:70486911	SHANK2	E1128Q, E540Q, E749Q	Autism spectrum disorder	Likely benign (Jun 22, 2021)	criteria provided, single submitter
Select item 72755090.	NM_012309.5(SHANK2):c.3351C>G (p.Pro1117=) GRCh37: Chr11:70333047 GRCh38: Chr11:70486942	SHANK2		not provided	Benign (Dec 31, 2019)	criteria provided, single submitter
Select item 21216191.	NM_012309.5(SHANK2):c.3299C>T (p.Pro1100Leu) GRCh37: Chr11:70333099 GRCh38: Chr11:70486994	SHANK2	P1100L, P512L, P721L	not specified	Likely benign (Oct 17, 2014)	criteria provided, single submitter
Select item 133637292.	NM_012309.5(SHANK2):c.3266G>A (p.Arg1089His) GRCh37: Chr11:70333132 GRCh38: Chr11:70487027	SHANK2	R1089H, R501H, R710H	Autism, susceptibility to, 17, not specified	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87079193.	NM_012309.5(SHANK2):c.3246C>G (p.Ile1082Met) GRCh37: Chr11:70333152 GRCh38: Chr11:70487047	SHANK2	I1082M, I494M, I703M	not provided	Uncertain significance (Oct 1, 2019)	criteria provided, single submitter
Select item 129851894.	NM_012309.5(SHANK2):c.3243C>G (p.Ala1081=) GRCh37: Chr11:70333155 GRCh38: Chr11:70487050	SHANK2		not provided	Uncertain significance (Jul 1, 2021)	criteria provided, single submitter
Select item 38830195.	NM_012309.5(SHANK2):c.3231C>A (p.Pro1077=) GRCh37: Chr11:70333167 GRCh38: Chr11:70487062	SHANK2		not specified	Likely benign (Jul 29, 2016)	criteria provided, single submitter
Select item 30590196.	NM_012309.5(SHANK2):c.3172C>T (p.Gln1058Ter) GRCh37: Chr11:70333226 GRCh38: Chr11:70487121	SHANK2	Q1058, Q470, Q679*	Autism spectrum disorder	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 43670697.	NM_012309.5(SHANK2):c.3120C>T (p.Ser1040=) GRCh37: Chr11:70333278 GRCh38: Chr11:70487173	SHANK2		not specified	Likely benign (Sep 15, 2016)	criteria provided, single submitter
Select item 70945298.	NM_012309.5(SHANK2):c.3105C>T (p.Ile1035=) GRCh37: Chr11:70333293 GRCh38: Chr11:70487188	SHANK2		not specified, not provided	Benign (Jul 3, 2019)	criteria provided, multiple submitters, no conflicts
Select item 72381099.	NM_012309.5(SHANK2):c.3060G>A (p.Glu1020=) GRCh37: Chr11:70333338 GRCh38: Chr11:70487233	SHANK2		not provided	Likely benign (Feb 12, 2018)	criteria provided, single submitter
Select item 681363100.	NM_012309.5(SHANK2):c.3042G>A (p.Val1014=) GRCh37: Chr11:70333356 GRCh38: Chr11:70487251	SHANK2		not provided	Likely benign (Feb 2, 2017)	criteria provided, single submitter

<< First< Prev

Page of 3