ClinVar for MedGen (Select 501171) - ClinVar - NCBI

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Items: 12

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24313411.	NM_001135649.3(FOXI3):c.713G>A (p.Arg238Gln) GRCh37: Chr2:88748276 GRCh38: Chr2:88448757	FOXI3	R238Q	Goldenhar syndrome	Likely pathogenic (Mar 6, 2022)	no assertion criteria provided
Select item 24313392.	NM_001135649.3(FOXI3):c.1243C>T (p.Arg415Ter) GRCh37: Chr2:88747746 GRCh38: Chr2:88448227	FOXI3	R415*	Goldenhar syndrome	Likely pathogenic (Mar 6, 2022)	no assertion criteria provided
Select item 24301583.	NM_001135649.3(FOXI3):c.703C>T (p.Arg235Cys) GRCh37: Chr2:88748286 GRCh38: Chr2:88448767	FOXI3	R235C	Goldenhar syndrome	Likely pathogenic (Mar 6, 2022)	no assertion criteria provided
Select item 19866464.	NM_001135649.3(FOXI3):c.1105AGCAATAGCACC[1] (p.369SNST[1]) GRCh37: Chr2:88747861-88747872 GRCh38: Chr2:88448342-88448353	FOXI3		not provided	Uncertain significance (Dec 22, 2021)	criteria provided, single submitter
Select item 17043115.	GRCh37/hg19 4q35.1-35.2(chr4:186473718-187912600)x3 GRCh37: Chr4:186473718-187912600	KLKB1, TLR3, F11, FAM149A, FAT1, MTNR1A, SORBS2, CYP4V2		Goldenhar syndrome	Uncertain significance	no assertion criteria provided
Select item 16913116.	NM_024646.3(ZYG11B):c.628C>T (p.Arg210Ter) GRCh37: Chr1:53237123 GRCh38: Chr1:52771451	ZYG11B	R210*	Goldenhar syndrome	Likely pathogenic (May 18, 2022)	criteria provided, single submitter
Select item 13533467.	NM_001135649.3(FOXI3):c.719G>A (p.Arg240His) GRCh37: Chr2:88748270 GRCh38: Chr2:88448751	FOXI3	R240H	not provided	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 13426648.	NM_006842.3(SF3B2):c.2480dup (p.Leu828fs) GRCh37: Chr11:65835667-65835668 GRCh38: Chr11:66068196-66068197	SF3B2	L828fs	Goldenhar syndrome	Pathogenic (Jul 13, 2023)	no assertion criteria provided
Select item 13426639.	NM_006842.3(SF3B2):c.1A>T (p.Met1Leu) GRCh37: Chr11:65819856 GRCh38: Chr11:66052385	SF3B2	M1L	Goldenhar syndrome	Pathogenic (Jul 13, 2023)	no assertion criteria provided
Select item 134266210.	NM_006842.3(SF3B2):c.1912C>T (p.Arg638Ter) GRCh37: Chr11:65829404 GRCh38: Chr11:66061933	SF3B2	R638*	Goldenhar syndrome	Pathogenic (Jul 13, 2023)	no assertion criteria provided
Select item 134266111.	NM_006842.3(SF3B2):c.1780-2del GRCh37: Chr11:65829155 GRCh38: Chr11:66061684	SF3B2		Goldenhar syndrome	Pathogenic (Jul 13, 2023)	no assertion criteria provided
Select item 116277612.	NM_002031.3(FRK):c.484G>A (p.Val162Ile) GRCh37: Chr6:116289885 GRCh38: Chr6:115968722	FRK	V162I	Goldenhar syndrome	Uncertain significance (May 10, 2021)	no assertion criteria provided