ClinVar for MedGen (Select 9645) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 634522	NM_032608.7(MYO18B):c.5038dup (p.Glu1680fs)	MYO18B (E1681fs +1 more)	Duplication (frameshift variant)	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome +1 more	GLikely pathogenic
Select item 587504	NM_032608.7(MYO18B):c.736G>T (p.Gly246Trp)	MYO18B (G246W)	Single nucleotide variant (missense variant)	Klippel-Feil syndrome	GLikely benign
Select item 369618	NC_000008.11:g.96142320C>G	GDF6	Single nucleotide variant	Klippel-Feil syndrome	GLikely benign
Select item 364034	NM_001001557.4(GDF6):c.271_272insCTC	GDF6	Insertion (3 prime UTR variant)	Klippel-Feil syndrome +1 more	GConflicting classifications of pathogenicity
Select item 364033	NM_001001557.4(GDF6):c.271_272insC	GDF6	Insertion (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 364032	NM_001001557.4(GDF6):c.268_275delinsCTTT	GDF6	Indel (3 prime UTR variant)	Klippel-Feil syndrome	GUncertain significance
Select item 364030	NM_001001557.4(GDF6):c.272_278del	GDF6	Deletion (3 prime UTR variant)	Klippel-Feil syndrome	GUncertain significance
Select item 364027	NM_001001557.4(GDF6):c.*273CT[20]	GDF6	Microsatellite (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 364026	NM_001001557.4(GDF6):c.320_321insCTTT	GDF6	Insertion (3 prime UTR variant)	Klippel-Feil syndrome	GUncertain significance
Select item 364025	NM_001001557.4(GDF6):c.321_322del	GDF6	Deletion (3 prime UTR variant)	Klippel-Feil syndrome	GUncertain significance
Select item 364024	NM_001001557.4(GDF6):c.322_323insTT	GDF6	Insertion (3 prime UTR variant)	Klippel-Feil syndrome	GUncertain significance
Select item 364012	NM_001001557.4(GDF6):c.1429_1430del	GDF6	Deletion (3 prime UTR variant)	Klippel-Feil syndrome	GLikely benign
Select item 8373	NM_001001557.4(GDF6):c.1271A>G (p.Lys424Arg)	GDF6 (K424R)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 17 +4 more	GConflicting classifications of pathogenicity
Select item 8371	NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu)	GDF6 (A249E)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity