ClinVar for MedGen (Select 481529) - ClinVar

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Items: 39

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 15036991.	NM_198525.3(KIF7):c.3431G>T (p.Arg1144Leu) GRCh37: Chr15:90172692 GRCh38: Chr15:89629461	KIF7, LOC126862216	R1144L	Multiple epiphyseal dysplasia, Al-Gazali type, Acrocallosal syndrome, Hydrolethalus syndrome 2, Acrocallosal syndrome	Uncertain significance (Aug 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 15014652.	NM_198525.3(KIF7):c.2642C>T (p.Thr881Met) GRCh37: Chr15:90176448 GRCh38: Chr15:89633217	KIF7	T881M	Inborn genetic diseases, Acrocallosal syndrome, Hydrolethalus syndrome 2, Multiple epiphyseal dysplasia, Al-Gazali type, Acrocallosal syndrome, not provided	Uncertain significance (Mar 6, 2023)	criteria provided, multiple submitters, no conflicts
Select item 14672603.	NM_198525.3(KIF7):c.1741C>A (p.Pro581Thr) GRCh37: Chr15:90190108 GRCh38: Chr15:89646877	KIF7	P581T	Acrocallosal syndrome, Acrocallosal syndrome, Multiple epiphyseal dysplasia, Al-Gazali type, Hydrolethalus syndrome 2, Inborn genetic diseases	Uncertain significance (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14246114.	NM_198525.3(KIF7):c.976G>A (p.Val326Ile) GRCh37: Chr15:90191953 GRCh38: Chr15:89648722	KIF7	V326I	Acrocallosal syndrome, Hydrolethalus syndrome 2, Multiple epiphyseal dysplasia, Al-Gazali type, Acrocallosal syndrome	Uncertain significance (Jan 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13345445.	NM_198525.3(KIF7):c.1561-1G>A GRCh37: Chr15:90190289 GRCh38: Chr15:89647058	KIF7		Hydrolethalus syndrome 2, Acrocallosal syndrome	Likely pathogenic (Mar 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12118016.	NM_198525.3(KIF7):c.1921A>G (p.Arg641Gly) GRCh37: Chr15:90189125 GRCh38: Chr15:89645894	KIF7	R641G	Acrocallosal syndrome, Multiple epiphyseal dysplasia, Al-Gazali type, Hydrolethalus syndrome 2, not provided, Acrocallosal syndrome	Uncertain significance (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11646397.	NM_198525.3(KIF7):c.710G>T (p.Arg237Leu) GRCh37: Chr15:90192418 GRCh38: Chr15:89649187	KIF7	R237L	not provided, Acrocallosal syndrome, Hydrolethalus syndrome 2, Multiple epiphyseal dysplasia, Al-Gazali type, Acrocallosal syndrome	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10279318.	NM_198525.3(KIF7):c.2896-18T>A GRCh37: Chr15:90174959 GRCh38: Chr15:89631728	KIF7		Hydrolethalus syndrome 2, Acrocallosal syndrome	Uncertain significance (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9885399.	NM_198525.3(KIF7):c.1019dup (p.Asn341fs) GRCh37: Chr15:90191909-90191910 GRCh38: Chr15:89648678-89648679	KIF7	N341fs	Hydrolethalus syndrome 2, Multiple epiphyseal dysplasia, Al-Gazali type, Acrocallosal syndrome, not provided	Pathogenic (Dec 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 93085010.	NM_198525.3(KIF7):c.2978G>A (p.Arg993Gln) GRCh37: Chr15:90174859 GRCh38: Chr15:89631628	KIF7	R993Q	Hydrolethalus syndrome 2	Uncertain significance (Feb 20, 2020)	criteria provided, single submitter
Select item 93084911.	NM_198525.3(KIF7):c.3326C>T (p.Thr1109Met) GRCh37: Chr15:90172797 GRCh38: Chr15:89629566	KIF7, LOC126862216	T1109M	Hydrolethalus syndrome 2	Uncertain significance (Feb 20, 2020)	criteria provided, single submitter
Select item 67396212.	NM_198525.3(KIF7):c.3319-30A>C GRCh37: Chr15:90172834 GRCh38: Chr15:89629603	KIF7, LOC126862216		not provided, Hydrolethalus syndrome 2, Multiple epiphyseal dysplasia, Al-Gazali type, Acrocallosal syndrome	Benign (Aug 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 65255813.	NM_198525.3(KIF7):c.3784C>T (p.Arg1262Trp) GRCh37: Chr15:90171898 GRCh38: Chr15:89628667	KIF7	R1262W	Inborn genetic diseases, Hydrolethalus syndrome 2, Acrocallosal syndrome, not provided	Conflicting interpretations of pathogenicity (Oct 31, 2022)	criteria provided, conflicting interpretations
Select item 53199814.	NM_198525.3(KIF7):c.2815C>T (p.Arg939Trp) GRCh37: Chr15:90176131 GRCh38: Chr15:89632900	KIF7	R939W	Hydrolethalus syndrome 2, Multiple epiphyseal dysplasia, Al-Gazali type, Acrocallosal syndrome, not provided, Inborn genetic diseases, Acrocallosal syndrome	Uncertain significance (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 52273415.	NM_198525.3(KIF7):c.2425C>T (p.Arg809Trp) GRCh37: Chr15:90177084 GRCh38: Chr15:89633853	KIF7	R809W	Inborn genetic diseases, Hydrolethalus syndrome 2, Multiple epiphyseal dysplasia, Al-Gazali type, Acrocallosal syndrome, Hydrolethalus syndrome 2, Acrocallosal syndrome	Uncertain significance (Apr 13, 2023)	criteria provided, multiple submitters, no conflicts
Select item 50020216.	NM_198525.3(KIF7):c.2191+7C>T GRCh37: Chr15:90188237 GRCh38: Chr15:89645006	KIF7		Acrocallosal syndrome, Multiple epiphyseal dysplasia, Al-Gazali type, Hydrolethalus syndrome 2, Acrocallosal syndrome, not provided	Conflicting interpretations of pathogenicity (Aug 27, 2022)	criteria provided, conflicting interpretations
Select item 45228817.	NM_198525.3(KIF7):c.2354A>T (p.Glu785Val) GRCh37: Chr15:90185474 GRCh38: Chr15:89642243	KIF7	E785V	Acrocallosal syndrome, Multiple epiphyseal dysplasia, Al-Gazali type, Hydrolethalus syndrome 2, not provided	Uncertain significance (Oct 31, 2018)	criteria provided, multiple submitters, no conflicts
Select item 43564518.	NM_198525.3(KIF7):c.2887T>A (p.Ser963Thr) GRCh37: Chr15:90176059 GRCh38: Chr15:89632828	KIF7	S963T	not specified, Acrocallosal syndrome, Hydrolethalus syndrome 2, Multiple epiphyseal dysplasia, Al-Gazali type, not provided, Acrocallosal syndrome	Uncertain significance (May 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 38433019.	NM_198525.3(KIF7):c.2482G>A (p.Val828Met) GRCh37: Chr15:90177027 GRCh38: Chr15:89633796	KIF7	V828M	Acrocallosal syndrome, Hydrolethalus syndrome 2, Multiple epiphyseal dysplasia, Al-Gazali type, not provided, Acrocallosal syndrome	Uncertain significance (May 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31738220.	NM_198525.3(KIF7):c.208G>A (p.Val70Met) GRCh37: Chr15:90195954 GRCh38: Chr15:89652723	KIF7	V70M	Acrocallosal syndrome, Hydrolethalus syndrome 2	Uncertain significance (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28833621.	NM_198525.3(KIF7):c.2917C>G (p.Arg973Gly) GRCh37: Chr15:90174920 GRCh38: Chr15:89631689	KIF7	R973G	Acrocallosal syndrome, Acrocallosal syndrome, Hydrolethalus syndrome 2, Multiple epiphyseal dysplasia, Al-Gazali type, not provided	Uncertain significance (Jul 12, 2023)	criteria provided, multiple submitters, no conflicts
Select item 28656122.	NM_198525.3(KIF7):c.2105G>A (p.Arg702Gln) GRCh37: Chr15:90188330 GRCh38: Chr15:89645099	KIF7	R702Q	Multiple epiphyseal dysplasia, Al-Gazali type, Hydrolethalus syndrome 2, Acrocallosal syndrome, not provided, Multiple epiphyseal dysplasia, Al-Gazali type, Acrocallosal syndrome	Uncertain significance (Jul 25, 2023)	criteria provided, multiple submitters, no conflicts
Select item 28392323.	NM_198525.3(KIF7):c.1177G>T (p.Gly393Cys) GRCh37: Chr15:90191752 GRCh38: Chr15:89648521	KIF7	G393C	Hydrolethalus syndrome 2, Acrocallosal syndrome, Multiple epiphyseal dysplasia, Al-Gazali type, Inborn genetic diseases, not provided, Acrocallosal syndrome	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 28307824.	NM_198525.3(KIF7):c.2420C>T (p.Thr807Met) GRCh37: Chr15:90177089 GRCh38: Chr15:89633858	KIF7	T807M	not provided, Acrocallosal syndrome, Hydrolethalus syndrome 2, Acrocallosal syndrome, Multiple epiphyseal dysplasia, Al-Gazali type	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 26314525.	NM_198525.3(KIF7):c.3112-11_3112-10insCT GRCh37: Chr15:90173734-90173735 GRCh38: Chr15:89630503-89630504	KIF7		not provided, Hydrolethalus syndrome 2, Multiple epiphyseal dysplasia, Al-Gazali type, Acrocallosal syndrome, not specified	Benign (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 26313926.	NM_198525.3(KIF7):c.1885G>A (p.Glu629Lys) GRCh37: Chr15:90189161 GRCh38: Chr15:89645930	KIF7	E629K	not provided, not specified, Acrocallosal syndrome, Hydrolethalus syndrome 2, Multiple epiphyseal dysplasia, Al-Gazali type, Acrocallosal syndrome	Benign/Likely benign (Aug 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 26313827.	NM_198525.3(KIF7):c.1788+13T>C GRCh37: Chr15:90190048 GRCh38: Chr15:89646817	KIF7		Hydrolethalus syndrome 2, not specified, not provided, Multiple epiphyseal dysplasia, Al-Gazali type, Acrocallosal syndrome	Benign (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19789928.	NM_198525.3(KIF7):c.1429G>A (p.Ala477Thr) GRCh37: Chr15:90191500 GRCh38: Chr15:89648269	KIF7	A477T	Acrocallosal syndrome, Hydrolethalus syndrome 2, Multiple epiphyseal dysplasia, Al-Gazali type, not specified, not provided, Acrocallosal syndrome	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12941629.	NM_198525.3(KIF7):c.3517+6C>T GRCh37: Chr15:90172600 GRCh38: Chr15:89629369	KIF7, LOC126862216		not specified, not provided, Hydrolethalus syndrome 2, Multiple epiphyseal dysplasia, Al-Gazali type, Acrocallosal syndrome	Benign (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12941530.	NM_198525.3(KIF7):c.3345C>G (p.His1115Gln) GRCh37: Chr15:90172778 GRCh38: Chr15:89629547	KIF7, LOC126862216	H1115Q	Acrocallosal syndrome, Multiple epiphyseal dysplasia, Al-Gazali type, Hydrolethalus syndrome 2, not specified, not provided, Hydrolethalus syndrome 2, Acrocallosal syndrome	Benign/Likely benign (May 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 12941331.	NM_198525.3(KIF7):c.2658A>C (p.Ala886=) GRCh37: Chr15:90176432 GRCh38: Chr15:89633201	KIF7		not specified, not provided, Hydrolethalus syndrome 2, Multiple epiphyseal dysplasia, Al-Gazali type, Acrocallosal syndrome	Benign (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12940832.	NM_198525.3(KIF7):c.195G>C (p.Ala65=) GRCh37: Chr15:90195967 GRCh38: Chr15:89652736	KIF7		not specified, not provided, Hydrolethalus syndrome 2, Multiple epiphyseal dysplasia, Al-Gazali type, Acrocallosal syndrome	Benign (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12940633.	NM_198525.3(KIF7):c.154G>A (p.Asp52Asn) GRCh37: Chr15:90196008 GRCh38: Chr15:89652777	KIF7	D52N	not specified, not provided, Hydrolethalus syndrome 2, Multiple epiphyseal dysplasia, Al-Gazali type, Acrocallosal syndrome	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9665534.	NM_198525.3(KIF7):c.3048G>A (p.Ser1016=) GRCh37: Chr15:90174789 GRCh38: Chr15:89631558	KIF7		not provided, not specified, Multiple epiphyseal dysplasia, Al-Gazali type, Hydrolethalus syndrome 2, Acrocallosal syndrome	Benign (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9665335.	NM_198525.3(KIF7):c.3013G>A (p.Gly1005Arg) GRCh37: Chr15:90174824 GRCh38: Chr15:89631593	KIF7	G1005R	not specified, not provided, Hydrolethalus syndrome 2, Multiple epiphyseal dysplasia, Al-Gazali type, Acrocallosal syndrome	Benign (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9665236.	NM_198525.3(KIF7):c.2896-14G>A GRCh37: Chr15:90174955 GRCh38: Chr15:89631724	KIF7		not specified, not provided, Hydrolethalus syndrome 2, Multiple epiphyseal dysplasia, Al-Gazali type, Acrocallosal syndrome	Benign (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9665137.	NM_198525.3(KIF7):c.2873G>T (p.Ser958Ile) GRCh37: Chr15:90176073 GRCh38: Chr15:89632842	KIF7	S958I	not provided, not specified, Hydrolethalus syndrome 2, Multiple epiphyseal dysplasia, Al-Gazali type, Acrocallosal syndrome	Benign (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9664938.	NM_198525.3(KIF7):c.1102A>G (p.Thr368Ala) GRCh37: Chr15:90191827 GRCh38: Chr15:89648596	KIF7	T368A	Acrocallosal syndrome, not provided, not specified, Hydrolethalus syndrome 2, Multiple epiphyseal dysplasia, Al-Gazali type	Benign (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3089539.	NM_198525.3(KIF7):c.2896_2897del (p.Ala966fs) GRCh37: Chr15:90174940-90174941 GRCh38: Chr15:89631709-89631710	KIF7	A966fs	not provided, Multiple epiphyseal dysplasia, Al-Gazali type, Acrocallosal syndrome	Pathogenic (Sep 9, 2023)	criteria provided, multiple submitters, no conflicts

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Items: 39