ClinVar for MedGen (Select 808205) - ClinVar - NCBI

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Items: 7

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 6359571.	Single allele GRCh37: Chr3:158567751-160802139	IL12A, IQCJ, ARL14, B3GALNT1, C3orf80, IFT80, IQCJ-SCHIP1, KPNA4, PPM1L, SCHIP1, SMC4, TRIM59		Growth abnormality	Uncertain significance (Apr 9, 2019)	criteria provided, single submitter
Select item 6359242.	Single allele GRCh37: Chr1:145461209-146467333	ANKRD34A, ANKRD35, CD160, GPR89A, ITGA10, LIX1L, NBPF11, NBPF12, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115		Growth abnormality	Uncertain significance (Apr 9, 2019)	criteria provided, single submitter
Select item 6359083.	Single allele GRCh37: Chr1:173401888-174124738	GAS5, RC3H1, SERPINC1, SLC9C2, ZBTB37, KLHL20, PRDX6, ANKRD45, CENPL, DARS2		Growth abnormality	Uncertain significance (Apr 9, 2019)	criteria provided, single submitter
Select item 6359044.	Single allele GRCh37: Chr1:144124843-144680183	NBPF8, PPIAL4A		Growth abnormality	Uncertain significance (Apr 9, 2019)	criteria provided, single submitter
Select item 6358835.	Single allele GRCh37: Chr17:163753-687906	GEMIN4, GLOD4, LIAT1, MRM3, RFLNB, RPH3AL, TLCD3A, VPS53		Growth abnormality	Uncertain significance (Apr 9, 2019)	criteria provided, single submitter
Select item 6358826.	Single allele GRCh37: Chr17:37617331-37737185	CDK12		Growth abnormality	Uncertain significance (Apr 9, 2019)	criteria provided, single submitter
Select item 3755027.	NM_001375380.1(EBF3):c.280_283del (p.Glu94fs) GRCh37: Chr10:131761639-131761642 GRCh38: Chr10:129963375-129963378	EBF3	E94fs	Recurrent urinary tract infections, Vesicoureteral reflux, Generalized hypotonia, Growth abnormality, Abnormal facial shape, Constipation, Global developmental delay, Hypotonia, ataxia, and delayed development syndrome	Pathogenic (Feb 7, 2017)	no assertion criteria provided