ClinVar for MedGen (Select 934690) - ClinVar

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Items: 41

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25051041.	NM_001206999.2(CIT):c.1296-2A>G GRCh37: Chr12:120222871 GRCh38: Chr12:119785067	CIT		Microcephaly 17, primary, autosomal recessive	not provided	no assertion provided
Select item 24419872.	NM_001206999.2(CIT):c.2357A>G (p.Asn786Ser) GRCh37: Chr12:120198807 GRCh38: Chr12:119761003	CIT	N744S, N786S	Microcephaly 17, primary, autosomal recessive	Uncertain significance (Mar 30, 2021)	criteria provided, single submitter
Select item 24400893.	NM_001206999.2(CIT):c.4087C>T (p.Arg1363Trp) GRCh37: Chr12:120156131 GRCh38: Chr12:119718326	CIT	R1321W, R1363W	Microcephaly 17, primary, autosomal recessive	Uncertain significance (Mar 19, 2020)	criteria provided, single submitter
Select item 24400884.	NM_001206999.2(CIT):c.938A>G (p.Asn313Ser) GRCh37: Chr12:120262988 GRCh38: Chr12:119825184	CIT	N313S	Microcephaly 17, primary, autosomal recessive	Uncertain significance (Jun 21, 2022)	criteria provided, single submitter
Select item 24400875.	NM_001206999.2(CIT):c.2227C>T (p.Arg743Trp) GRCh37: Chr12:120204968 GRCh38: Chr12:119767164	CIT	R701W, R743W	Microcephaly 17, primary, autosomal recessive	Uncertain significance (Jun 18, 2021)	criteria provided, single submitter
Select item 23474816.	NM_001206999.2(CIT):c.1121C>A (p.Pro374His) GRCh37: Chr12:120241184 GRCh38: Chr12:119803380	CIT	P374H	Inborn genetic diseases, Microcephaly 17, primary, autosomal recessive	Uncertain significance (Aug 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21713457.	NM_001206999.2(CIT):c.2086C>T (p.Arg696Cys) GRCh37: Chr12:120208711 GRCh38: Chr12:119770907	CIT	R696C	not provided, Inborn genetic diseases, Microcephaly 17, primary, autosomal recessive	Uncertain significance (Jan 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 18056468.	NM_001206999.2(CIT):c.731C>T (p.Ala244Val) GRCh37: Chr12:120270597 GRCh38: Chr12:119832793	CIT	A244V	Microcephaly 17, primary, autosomal recessive	Uncertain significance (May 21, 2020)	criteria provided, single submitter
Select item 18055779.	NM_001206999.2(CIT):c.4933C>A (p.Gln1645Lys) GRCh37: Chr12:120148347 GRCh38: Chr12:119710542	CIT	Q1603K, Q1645K	Microcephaly 17, primary, autosomal recessive	Uncertain significance (May 21, 2020)	criteria provided, single submitter
Select item 133341810.	NM_001206999.2(CIT):c.957+1G>T GRCh37: Chr12:120262968 GRCh38: Chr12:119825164	CIT		Microcephaly 17, primary, autosomal recessive	Pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 126618411.	NM_001206999.2(CIT):c.2532-6del GRCh37: Chr12:120195355 GRCh38: Chr12:119757551	CIT		Microcephaly 17, primary, autosomal recessive, not provided	Benign/Likely benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120974612.	NM_001206999.2(CIT):c.753+47A>G GRCh37: Chr12:120270528 GRCh38: Chr12:119832724	CIT		Microcephaly 17, primary, autosomal recessive, not provided	Benign (Jul 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 120974513.	NM_001206999.2(CIT):c.2871A>G (p.Thr957=) GRCh37: Chr12:120189888 GRCh38: Chr12:119752083	CIT		Microcephaly 17, primary, autosomal recessive, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120974414.	NM_001206999.2(CIT):c.2880T>C (p.Ala960=) GRCh37: Chr12:120189879 GRCh38: Chr12:119752074	CIT		Microcephaly 17, primary, autosomal recessive, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120974315.	NM_001206999.2(CIT):c.3157-11C>T GRCh37: Chr12:120172173 GRCh38: Chr12:119734368	CIT		Microcephaly 17, primary, autosomal recessive, not provided	Benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120974216.	NM_001206999.2(CIT):c.3324A>G (p.Arg1108=) GRCh37: Chr12:120171995 GRCh38: Chr12:119734190	CIT		Microcephaly 17, primary, autosomal recessive, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120974117.	NM_001206999.2(CIT):c.4077C>T (p.Ser1359=) GRCh37: Chr12:120156141 GRCh38: Chr12:119718336	CIT		Microcephaly 17, primary, autosomal recessive, not provided	Benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 118327518.	NM_001206999.2(CIT):c.3271G>A (p.Val1091Ile) GRCh37: Chr12:120172048 GRCh38: Chr12:119734243	CIT	V1049I, V1091I	Microcephaly 17, primary, autosomal recessive, not provided	Uncertain significance (Mar 19, 2020)	criteria provided, multiple submitters, no conflicts
Select item 103270419.	NM_001206999.2(CIT):c.644T>C (p.Met215Thr) GRCh37: Chr12:120271905 GRCh38: Chr12:119834101	CIT	M215T	Microcephaly 17, primary, autosomal recessive	Uncertain significance (Feb 6, 2018)	criteria provided, single submitter
Select item 103270220.	NM_001206999.2(CIT):c.1049A>G (p.Lys350Arg) GRCh37: Chr12:120260686 GRCh38: Chr12:119822882	CIT	K350R	Microcephaly 17, primary, autosomal recessive	Uncertain significance (May 31, 2018)	criteria provided, single submitter
Select item 103270121.	NM_001206999.2(CIT):c.1031G>T (p.Gly344Val) GRCh37: Chr12:120260704 GRCh38: Chr12:119822900	CIT	G344V	Microcephaly 17, primary, autosomal recessive	Uncertain significance (Feb 13, 2018)	criteria provided, single submitter
Select item 103030222.	NM_001206999.2(CIT):c.4898G>A (p.Arg1633His) GRCh37: Chr12:120148382 GRCh38: Chr12:119710577	CIT	R1633H, R1591H	Microcephaly 17, primary, autosomal recessive	Uncertain significance (Sep 6, 2019)	criteria provided, single submitter
Select item 103030123.	NM_001206999.2(CIT):c.4897C>T (p.Arg1633Cys) GRCh37: Chr12:120148383 GRCh38: Chr12:119710578	CIT	R1591C, R1633C	Microcephaly 17, primary, autosomal recessive	Uncertain significance (Nov 6, 2019)	criteria provided, single submitter
Select item 103030024.	NM_001206999.2(CIT):c.4691C>A (p.Pro1564Gln) GRCh37: Chr12:120150146 GRCh38: Chr12:119712341	CIT	P1522Q, P1564Q	Microcephaly 17, primary, autosomal recessive, not provided	Uncertain significance (Jan 23, 2020)	criteria provided, multiple submitters, no conflicts
Select item 103029925.	NM_001206999.2(CIT):c.3157-5T>G GRCh37: Chr12:120172167 GRCh38: Chr12:119734362	CIT		Microcephaly 17, primary, autosomal recessive	Uncertain significance (Sep 6, 2019)	criteria provided, single submitter
Select item 98322026.	NM_001206999.2(CIT):c.4617del (p.Asp1541fs) GRCh37: Chr12:120150463 GRCh38: Chr12:119712658	CIT	D1499fs, D1541fs	Microcephaly 17, primary, autosomal recessive	Pathogenic	criteria provided, single submitter
Select item 98321927.	NM_001206999.2(CIT):c.367T>G (p.Tyr123Asp) GRCh37: Chr12:120295374 GRCh38: Chr12:119857570	CIT	Y123D	Microcephaly 17, primary, autosomal recessive	Likely pathogenic	criteria provided, single submitter
Select item 81684828.	NM_001206999.2(CIT):c.2777A>C (p.Gln926Pro) GRCh37: Chr12:120189982 GRCh38: Chr12:119752177	CIT	Q926P, Q884P	Microcephaly 17, primary, autosomal recessive	Uncertain significance	no assertion criteria provided
Select item 80075829.	NM_001206999.2(CIT):c.4354A>C (p.Thr1452Pro) GRCh37: Chr12:120151406 GRCh38: Chr12:119713601	CIT	T1452P, T1410P	Microcephaly 17, primary, autosomal recessive	Uncertain significance (Jan 29, 2019)	no assertion criteria provided
Select item 63624030.	NM_001206999.2(CIT):c.3491A>G (p.Asn1164Ser) GRCh37: Chr12:120166407 GRCh38: Chr12:119728602	CIT	N1164S, N1122S	not provided, Microcephaly 17, primary, autosomal recessive	Conflicting interpretations of pathogenicity (Dec 1, 2022)	criteria provided, conflicting interpretations
Select item 63623931.	NM_001206999.2(CIT):c.652G>A (p.Val218Met) GRCh37: Chr12:120271897 GRCh38: Chr12:119834093	CIT	V218M	Microcephaly 17, primary, autosomal recessive	Uncertain significance (Jan 11, 2019)	criteria provided, single submitter
Select item 59209932.	NM_001206999.2(CIT):c.5405C>T (p.Thr1802Met) GRCh37: Chr12:120139663 GRCh38: Chr12:119701858	CIT	T1802M, T1760M	not provided	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 59209833.	NM_001206999.2(CIT):c.3350+5G>A GRCh37: Chr12:120171964 GRCh38: Chr12:119734159	CIT		not provided	Uncertain significance (Oct 16, 2019)	criteria provided, single submitter
Select item 56026134.	NM_001206999.2(CIT):c.4130C>T (p.Pro1377Leu) GRCh37: Chr12:120156088 GRCh38: Chr12:119718283	CIT	P1377L, P1335L	Microcephaly 17, primary, autosomal recessive	Uncertain significance (Mar 9, 2018)	criteria provided, single submitter
Select item 42317735.	NM_001206999.2(CIT):c.67C>T (p.Arg23Trp) GRCh37: Chr12:120313906 GRCh38: Chr12:119876102	CIT	R23W	Microcephaly 17, primary, autosomal recessive, not provided	Uncertain significance (Jan 24, 2017)	criteria provided, multiple submitters, no conflicts
Select item 25413936.	NM_001206999.2(CIT):c.753+3A>T GRCh37: Chr12:120270572 GRCh38: Chr12:119832768	CIT		Microcephaly 17, primary, autosomal recessive	Pathogenic (Sep 25, 2022)	no assertion criteria provided
Select item 25413637.	NM_001206999.2(CIT):c.689A>T (p.Asp230Val) GRCh37: Chr12:120270639 GRCh38: Chr12:119832835	CIT	D230V	Microcephaly 17, primary, autosomal recessive	Pathogenic (Sep 2, 2016)	no assertion criteria provided
Select item 25413538.	NM_001206999.2(CIT):c.376A>C (p.Lys126Gln) GRCh37: Chr12:120295365 GRCh38: Chr12:119857561	CIT	K126Q	Microcephaly 17, primary, autosomal recessive	Pathogenic (Sep 2, 2016)	no assertion criteria provided
Select item 25413439.	NM_001206999.2(CIT):c.317G>T (p.Gly106Val) GRCh37: Chr12:120295424 GRCh38: Chr12:119857620	CIT	G106V	Microcephaly 17, primary, autosomal recessive	Pathogenic (Sep 2, 2016)	no assertion criteria provided
Select item 25299240.	NM_001206999.2(CIT):c.1111+1G>A GRCh37: Chr12:120260623 GRCh38: Chr12:119822819	CIT		Autosomal recessive primary microcephaly, Microcephaly 17, primary, autosomal recessive	Pathogenic (Sep 2, 2016)	no assertion criteria provided
Select item 22128341.	NM_001206999.2(CIT):c.29_38del (p.Asn10fs) GRCh37: Chr12:120313935-120313944 GRCh38: Chr12:119876131-119876140	CIT	N10fs	Microcephaly 17, primary, autosomal recessive, Autosomal recessive primary microcephaly	Pathogenic (Sep 2, 2016)	no assertion criteria provided

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Items: 41