ClinVar for MedGen (Select 901885) - ClinVar

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Items: 52

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26640071.	NM_001081550.2(THOC2):c.4643A>C (p.Glu1548Ala) GRCh37: ChrX:122747284 GRCh38: ChrX:123613433	THOC2	E1548A	X-linked intellectual disability-short stature-overweight syndrome	Uncertain significance (Nov 24, 2023)	no assertion criteria provided
Select item 24370822.	NM_001081550.2(THOC2):c.4135G>T (p.Val1379Phe) GRCh37: ChrX:122755089 GRCh38: ChrX:123621238	THOC2	V1379F	X-linked intellectual disability-short stature-overweight syndrome	Uncertain significance (Sep 5, 2022)	criteria provided, single submitter
Select item 24370813.	NM_001081550.2(THOC2):c.317A>G (p.Tyr106Cys) GRCh37: ChrX:122831559 GRCh38: ChrX:123697709	THOC2	Y106C	X-linked intellectual disability-short stature-overweight syndrome	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 24370804.	NM_001081550.2(THOC2):c.3038C>T (p.Thr1013Ile) GRCh37: ChrX:122759782 GRCh38: ChrX:123625931	THOC2	T1013I	X-linked intellectual disability-short stature-overweight syndrome	Uncertain significance (May 17, 2021)	criteria provided, single submitter
Select item 24370795.	NM_001081550.2(THOC2):c.4226G>A (p.Arg1409His) GRCh37: ChrX:122754807 GRCh38: ChrX:123620956	THOC2	R1409H	X-linked intellectual disability-short stature-overweight syndrome	Uncertain significance (Nov 15, 2021)	criteria provided, single submitter
Select item 18053776.	NM_001081550.2(THOC2):c.4318A>G (p.Ile1440Val) GRCh37: ChrX:122748034 GRCh38: ChrX:123614183	THOC2	I1440V	X-linked intellectual disability-short stature-overweight syndrome	Uncertain significance (Mar 31, 2022)	criteria provided, single submitter
Select item 18025597.	NM_001081550.2(THOC2):c.623A>G (p.Asn208Ser) GRCh37: ChrX:122820543 GRCh38: ChrX:123686693	THOC2	N208S	THOC2-related condition, X-linked intellectual disability-short stature-overweight syndrome	Uncertain significance (Nov 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 17092808.	NM_001081550.2(THOC2):c.2983T>C (p.Tyr995His) GRCh37: ChrX:122759837 GRCh38: ChrX:123625986	THOC2	Y995H	X-linked intellectual disability-short stature-overweight syndrome	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 17002289.	NM_001081550.2(THOC2):c.2695T>C (p.Tyr899His) GRCh37: ChrX:122761606 GRCh38: ChrX:123627755	THOC2	Y899H	X-linked intellectual disability-short stature-overweight syndrome	Likely pathogenic	criteria provided, single submitter
Select item 170022510.	NM_001081550.2(THOC2):c.34T>C (p.Trp12Arg) GRCh37: ChrX:122866839 GRCh38: ChrX:123732989	LOC130068628, THOC2	W12R	X-linked intellectual disability-short stature-overweight syndrome	Likely pathogenic	criteria provided, single submitter
Select item 152793711.	NM_001081550.2(THOC2):c.1844G>A (p.Cys615Tyr) GRCh37: ChrX:122771971 GRCh38: ChrX:123638120	THOC2	C615Y	X-linked intellectual disability-short stature-overweight syndrome	Likely pathogenic (Jan 1, 2022)	criteria provided, single submitter
Select item 134229112.	NM_001081550.2(THOC2):c.2317-47A>G GRCh37: ChrX:122765750 GRCh38: ChrX:123631899	THOC2		X-linked intellectual disability-short stature-overweight syndrome	Benign (Sep 10, 2021)	criteria provided, single submitter
Select item 134229013.	NM_001081550.2(THOC2):c.2481+42A>G GRCh37: ChrX:122765497 GRCh38: ChrX:123631646	THOC2		X-linked intellectual disability-short stature-overweight syndrome	Benign (Sep 10, 2021)	criteria provided, single submitter
Select item 125714514.	NM_001081550.2(THOC2):c.3058-9C>T GRCh37: ChrX:122758529 GRCh38: ChrX:123624678	THOC2		X-linked intellectual disability-short stature-overweight syndrome, not provided	Benign (Sep 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 109885915.	NM_001081550.2(THOC2):c.3324G>A (p.Ser1108=) GRCh37: ChrX:122757817 GRCh38: ChrX:123623966	THOC2		X-linked intellectual disability-short stature-overweight syndrome, not provided	Likely benign (Jan 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 103327516.	NM_001081550.2(THOC2):c.2414A>G (p.Asn805Ser) GRCh37: ChrX:122765606 GRCh38: ChrX:123631755	THOC2	N805S	X-linked intellectual disability-short stature-overweight syndrome	Uncertain significance (Feb 21, 2018)	criteria provided, single submitter
Select item 102905217.	NM_001081550.2(THOC2):c.2993G>A (p.Arg998His) GRCh37: ChrX:122759827 GRCh38: ChrX:123625976	THOC2	R998H	X-linked intellectual disability-short stature-overweight syndrome	Uncertain significance (May 5, 2020)	criteria provided, single submitter
Select item 102905118.	NM_001081550.2(THOC2):c.2734G>C (p.Ala912Pro) GRCh37: ChrX:122761567 GRCh38: ChrX:123627716	THOC2	A912P	X-linked intellectual disability-short stature-overweight syndrome, not provided	Uncertain significance (Jul 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102905019.	NM_001081550.2(THOC2):c.195G>C (p.Gln65His) GRCh37: ChrX:122840735 GRCh38: ChrX:123706885	THOC2	Q65H	X-linked intellectual disability-short stature-overweight syndrome	Uncertain significance (Jan 6, 2020)	criteria provided, single submitter
Select item 99689020.	NM_001081550.2(THOC2):c.4519+3A>G GRCh37: ChrX:122747487 GRCh38: ChrX:123613636	THOC2		X-linked intellectual disability-short stature-overweight syndrome	Uncertain significance (Jan 4, 2022)	criteria provided, single submitter
Select item 98464721.	NM_001081550.2(THOC2):c.3305A>G (p.Tyr1102Cys) GRCh37: ChrX:122757924 GRCh38: ChrX:123624073	THOC2	Y1102C	X-linked intellectual disability-short stature-overweight syndrome	Likely pathogenic (Sep 2, 2020)	no assertion criteria provided
Select item 98236722.	NM_001081550.2(THOC2):c.1942G>T (p.Ala648Ser) GRCh37: ChrX:122770006 GRCh38: ChrX:123636155	THOC2	A648S	X-linked intellectual disability-short stature-overweight syndrome	Likely pathogenic	criteria provided, single submitter
Select item 97333523.	NM_001081550.2(THOC2):c.1967A>G (p.Asp656Gly) GRCh37: ChrX:122769981 GRCh38: ChrX:123636130	THOC2	D656G	X-linked intellectual disability-short stature-overweight syndrome, not provided	Uncertain significance (Sep 5, 2019)	criteria provided, multiple submitters, no conflicts
Select item 93098724.	NM_001081550.2(THOC2):c.3613G>C (p.Gly1205Arg) GRCh37: ChrX:122757025 GRCh38: ChrX:123623174	THOC2	G1205R	X-linked intellectual disability-short stature-overweight syndrome	Uncertain significance (Jan 22, 2019)	criteria provided, single submitter
Select item 80770925.	NM_001081550.2(THOC2):c.149A>C (p.Tyr50Ser) GRCh37: ChrX:122840781 GRCh38: ChrX:123706931	THOC2	Y50S	X-linked intellectual disability-short stature-overweight syndrome	Likely pathogenic (Aug 8, 2019)	criteria provided, single submitter
Select item 80436026.	NM_001081550.2(THOC2):c.4678-572_*18+1195del GRCh37: ChrX:122743574-122745939 GRCh38: ChrX:123609723-123612088	THOC2		X-linked intellectual disability-short stature-overweight syndrome	Uncertain significance (Jan 10, 2019)	no assertion criteria provided
Select item 80435927.	NM_001081550.2(THOC2):c.4646A>G (p.Lys1549Arg) GRCh37: ChrX:122747281 GRCh38: ChrX:123613430	THOC2	K1549R	X-linked intellectual disability-short stature-overweight syndrome	Uncertain significance (Jan 10, 2019)	no assertion criteria provided
Select item 80435828.	NM_001081550.2(THOC2):c.3300G>T (p.Trp1100Cys) GRCh37: ChrX:122757929 GRCh38: ChrX:123624078	THOC2	W1100C	X-linked intellectual disability-short stature-overweight syndrome	Uncertain significance (Jan 10, 2019)	no assertion criteria provided
Select item 80435729.	NM_001081550.2(THOC2):c.3223C>T (p.Arg1075Trp) GRCh37: ChrX:122758006 GRCh38: ChrX:123624155	THOC2	R1075W	X-linked intellectual disability-short stature-overweight syndrome	Uncertain significance (Jan 10, 2019)	no assertion criteria provided
Select item 80435630.	NM_001081550.2(THOC2):c.2642A>G (p.Tyr881Cys) GRCh37: ChrX:122761659 GRCh38: ChrX:123627808	THOC2	Y881C	X-linked intellectual disability-short stature-overweight syndrome	Uncertain significance (Jan 10, 2019)	no assertion criteria provided
Select item 80435531.	NM_001081550.2(THOC2):c.2170A>G (p.Lys724Glu) GRCh37: ChrX:122766858 GRCh38: ChrX:123633007	THOC2	K724E	X-linked intellectual disability-short stature-overweight syndrome	Uncertain significance (Jan 10, 2019)	no assertion criteria provided
Select item 80435432.	NM_001081550.2(THOC2):c.1996A>G (p.Asn666Asp) GRCh37: ChrX:122769952 GRCh38: ChrX:123636101	THOC2	N666D	X-linked intellectual disability-short stature-overweight syndrome	Uncertain significance (Jan 10, 2019)	no assertion criteria provided
Select item 78815933.	NM_001081550.2(THOC2):c.4338A>G (p.Pro1446=) GRCh37: ChrX:122748014 GRCh38: ChrX:123614163	THOC2		X-linked intellectual disability-short stature-overweight syndrome, not provided	Benign/Likely benign (Oct 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 71673734.	NM_001081550.2(THOC2):c.1261G>A (p.Ala421Thr) GRCh37: ChrX:122799618 GRCh38: ChrX:123665767	THOC2	A421T	not provided, X-linked intellectual disability-short stature-overweight syndrome	Benign/Likely benign (May 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 59209335.	NM_001081550.2(THOC2):c.133T>A (p.Phe45Ile) GRCh37: ChrX:122840797 GRCh38: ChrX:123706947	THOC2	F45I	X-linked intellectual disability-short stature-overweight syndrome	Uncertain significance (May 4, 2018)	no assertion criteria provided
Select item 52210836.	NM_001081550.2(THOC2):c.2942G>A (p.Cys981Tyr) GRCh37: ChrX:122759878 GRCh38: ChrX:123626027	THOC2	C981Y	Inborn genetic diseases	Uncertain significance (Oct 3, 2017)	criteria provided, single submitter
Select item 48843937.	NM_001081550.2(THOC2):c.3781A>C (p.Asn1261His) GRCh37: ChrX:122756613 GRCh38: ChrX:123622762	THOC2	N1261H	X-linked intellectual disability-short stature-overweight syndrome	Uncertain significance (Nov 10, 2023)	criteria provided, single submitter
Select item 48843838.	NM_001081550.2(THOC2):c.3361A>G (p.Arg1121Gly) GRCh37: ChrX:122757780 GRCh38: ChrX:123623929	THOC2	R1121G	X-linked intellectual disability-short stature-overweight syndrome	Uncertain significance (Feb 2, 2018)	no assertion criteria provided
Select item 48843739.	NM_001081550.2(THOC2):c.3323C>T (p.Ser1108Leu) GRCh37: ChrX:122757818 GRCh38: ChrX:123623967	THOC2	S1108L	X-linked intellectual disability-short stature-overweight syndrome	Uncertain significance (Feb 2, 2018)	no assertion criteria provided
Select item 48843640.	NM_001081550.2(THOC2):c.229C>T (p.Arg77Cys) GRCh37: ChrX:122837349 GRCh38: ChrX:123703499	THOC2	R77C	X-linked intellectual disability-short stature-overweight syndrome, not provided, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Jul 14, 2022)	criteria provided, conflicting interpretations
Select item 48843541.	NM_001081550.2(THOC2):c.1550A>G (p.Tyr517Cys) GRCh37: ChrX:122778639 GRCh38: ChrX:123644788	THOC2	Y517C	X-linked intellectual disability-short stature-overweight syndrome	Uncertain significance (Feb 2, 2018)	no assertion criteria provided
Select item 48843442.	NM_001081550.2(THOC2):c.4450-2A>G GRCh37: ChrX:122747561 GRCh38: ChrX:123613710	THOC2		X-linked intellectual disability-short stature-overweight syndrome	Likely pathogenic (Feb 2, 2018)	no assertion criteria provided
Select item 48843343.	NM_001081550.2(THOC2):c.3503+4A>C GRCh37: ChrX:122757634 GRCh38: ChrX:123623783	THOC2		X-linked intellectual disability-short stature-overweight syndrome	Likely pathogenic (Feb 2, 2018)	no assertion criteria provided
Select item 48843244.	NM_001081550.2(THOC2):c.3559C>T (p.His1187Tyr) GRCh37: ChrX:122757079 GRCh38: ChrX:123623228	THOC2	H1187Y	X-linked intellectual disability-short stature-overweight syndrome	Likely pathogenic (Feb 2, 2018)	no assertion criteria provided
Select item 48843145.	NM_001081550.2(THOC2):c.2138G>A (p.Gly713Asp) GRCh37: ChrX:122766890 GRCh38: ChrX:123633039	THOC2	G713D	X-linked intellectual disability-short stature-overweight syndrome	Pathogenic (Feb 2, 2018)	no assertion criteria provided
Select item 48843046.	NM_001081550.2(THOC2):c.2087C>T (p.Thr696Ile) GRCh37: ChrX:122767853 GRCh38: ChrX:123634002	THOC2	T696I	X-linked intellectual disability-short stature-overweight syndrome, not provided	Pathogenic/Likely pathogenic (Aug 1, 2020)	criteria provided, multiple submitters, no conflicts
Select item 44587747.	NM_001081550.2(THOC2):c.769-20dup GRCh37: ChrX:122805622-122805623 GRCh38: ChrX:123671771-123671772	THOC2		X-linked intellectual disability-short stature-overweight syndrome, not provided	Benign/Likely benign (Sep 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 35108648.	NM_022464.5(SIL1):c.274C>T (p.Arg92Trp) GRCh37: Chr5:138386706 GRCh38: Chr5:139051017	SIL1	R92W	X-linked intellectual disability-short stature-overweight syndrome, not specified, not provided, Marinesco-Sjögren syndrome	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 20852649.	NM_001081550.2(THOC2):c.2399T>C (p.Ile800Thr) GRCh37: ChrX:122765621 GRCh38: ChrX:123631770	THOC2	I800T	X-linked intellectual disability-short stature-overweight syndrome	Pathogenic (Aug 6, 2015)	no assertion criteria provided
Select item 20852550.	NM_001081550.2(THOC2):c.3034T>C (p.Ser1012Pro) GRCh37: ChrX:122759786 GRCh38: ChrX:123625935	THOC2	S1012P	X-linked intellectual disability-short stature-overweight syndrome	Pathogenic (Aug 6, 2015)	no assertion criteria provided
Select item 20852451.	NM_001081550.2(THOC2):c.937C>T (p.Leu313Phe) GRCh37: ChrX:122802090 GRCh38: ChrX:123668239	THOC2	L313F	X-linked intellectual disability-short stature-overweight syndrome	Pathogenic (Aug 6, 2015)	no assertion criteria provided
Select item 20852352.	NM_001081550.2(THOC2):c.1313T>C (p.Leu438Pro) GRCh37: ChrX:122799566 GRCh38: ChrX:123665715	THOC2	L438P	X-linked intellectual disability-short stature-overweight syndrome	Pathogenic (Aug 6, 2015)	no assertion criteria provided

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Items: 52