ClinVar for MedGen (Select 9645) - ClinVar - NCBI

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Items: 14

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 6345221.	NM_032608.7(MYO18B):c.5038dup (p.Glu1680fs) GRCh37: Chr22:26299683-26299684 GRCh38: Chr22:25903716-25903717	MYO18B	E1681fs, E1680fs	Cervical C2/C3 vertebral fusion, Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome	Likely pathogenic (Jan 1, 2019)	criteria provided, single submitter
Select item 5875042.	NM_032608.7(MYO18B):c.736G>T (p.Gly246Trp) GRCh37: Chr22:26164619 GRCh38: Chr22:25768652	MYO18B	G246W	Cervical C2/C3 vertebral fusion	Likely benign (Aug 7, 2018)	criteria provided, single submitter
Select item 3696183.	NM_001001557.3(GDF6):c.*2243G>C GRCh37: Chr8:97154548 GRCh38: Chr8:96142320	GDF6		Cervical C2/C3 vertebral fusion	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 3640344.	NM_001001557.4(GDF6):c.271_272insCTC GRCh37: Chr8:97156519-97156520 GRCh38: Chr8:96144291-96144292	GDF6		not provided, Cervical C2/C3 vertebral fusion	Conflicting interpretations of pathogenicity (Apr 9, 2019)	criteria provided, conflicting interpretations
Select item 3640335.	NM_001001557.4(GDF6):c.271_272insC GRCh37: Chr8:97156519-97156520 GRCh38: Chr8:96144291-96144292	GDF6		not provided, Cervical C2/C3 vertebral fusion	Conflicting interpretations of pathogenicity (Jul 9, 2020)	criteria provided, conflicting interpretations
Select item 3640326.	NM_001001557.4(GDF6):c.268_275delinsCTTT GRCh37: Chr8:97156516-97156523 GRCh38: Chr8:96144288-96144295	GDF6		Cervical C2/C3 vertebral fusion	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3640307.	NM_001001557.4(GDF6):c.272_278del GRCh37: Chr8:97156513-97156519 GRCh38: Chr8:96144285-96144291	GDF6		Cervical C2/C3 vertebral fusion	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3640278.	NM_001001557.4(GDF6):c.*273CT[20] GRCh37: Chr8:97156473-97156478 GRCh38: Chr8:96144245-96144250	GDF6		Cervical C2/C3 vertebral fusion	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3640269.	NM_001001557.4(GDF6):c.320_321insCTTT GRCh37: Chr8:97156470-97156471 GRCh38: Chr8:96144242-96144243	GDF6		Cervical C2/C3 vertebral fusion	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36402510.	NM_001001557.4(GDF6):c.321_322del GRCh37: Chr8:97156469-97156470 GRCh38: Chr8:96144241-96144242	GDF6		Cervical C2/C3 vertebral fusion	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36402411.	NM_001001557.4(GDF6):c.322_323insTT GRCh37: Chr8:97156468-97156469 GRCh38: Chr8:96144240-96144241	GDF6		Cervical C2/C3 vertebral fusion	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36401212.	NM_001001557.4(GDF6):c.1429_1430del GRCh37: Chr8:97155361-97155362 GRCh38: Chr8:96143133-96143134	GDF6		Cervical C2/C3 vertebral fusion	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 837313.	NM_001001557.4(GDF6):c.1271A>G (p.Lys424Arg) GRCh37: Chr8:97156888 GRCh38: Chr8:96144660	GDF6	K424R	Microphthalmia, isolated, with coloboma 6, Klippel-Feil syndrome 1, autosomal dominant, Leber congenital amaurosis 17, Isolated microphthalmia 4, Leber congenital amaurosis 17, Cervical C2/C3 vertebral fusion	Conflicting interpretations of pathogenicity (Jul 11, 2022)	criteria provided, conflicting interpretations
Select item 837114.	NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu) GRCh37: Chr8:97157413 GRCh38: Chr8:96145185	GDF6	A249E	Leber congenital amaurosis 17, Microphthalmia, isolated, with coloboma 6, Isolated microphthalmia 4, Klippel-Feil syndrome 1, autosomal dominant, Congenital anomaly of kidney and urinary tract, not provided, not specified, Cervical C2/C3 vertebral fusion, Klippel-Feil syndrome 1, autosomal dominant, Congenital anomaly of kidney and urinary tract, Klippel-Feil syndrome 1, autosomal dominant ...see more	Conflicting interpretations of pathogenicity (Oct 1, 2023)	criteria provided, conflicting interpretations