"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1285105	NM_017777.4(MKS1):c.1435C>T (p.Arg479Cys)	MKS1 (R276C +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +2 more	GUncertain significance
Select item 286884	NM_017777.4(MKS1):c.1388G>A (p.Arg463Gln)	MKS1 (R463Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 260880	NM_017777.4(MKS1):c.1273+11G>A	MKS1	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 13 +5 more	GBenign
Select item 387302	NM_017777.4(MKS1):c.1128G>A (p.Thr376=)	MKS1	Single nucleotide variant (synonymous variant)	MKS1-related condition +4 more	GConflicting classifications of pathogenicity
Select item 126274	NM_017777.4(MKS1):c.858+9A>G	MKS1	Single nucleotide variant (intron variant)	Joubert syndrome 28 +6 more	GBenign
Select item 324165	NM_017777.4(MKS1):c.644+8G>T	MKS1	Single nucleotide variant (intron variant)	Meckel syndrome, type 1 +4 more	GConflicting classifications of pathogenicity
Select item 291146	NM_017777.4(MKS1):c.516-10T>C	MKS1	Single nucleotide variant (intron variant)	MKS1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 1392	NM_017777.4(MKS1):c.417G>A (p.Glu139=)	MKS1	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 28 +7 more	GPathogenic/Likely pathogenic
Select item 196477	NM_017777.4(MKS1):c.213C>G (p.Asp71Glu)	MKS1 (D71E)	Single nucleotide variant (5 prime UTR variant +1 more)	MKS1-related condition +6 more	GConflicting classifications of pathogenicity
Select item 324171	NM_017777.4(MKS1):c.27C>T (p.Asp9=)	LOC130061271, MKS1	Single nucleotide variant (5 prime UTR variant +1 more)	Meckel syndrome, type 1 +4 more	GConflicting classifications of pathogenicity
Select item 288709	NM_017777.4(MKS1):c.12C>T (p.Thr4=)	LOC130061271, MKS1	Single nucleotide variant (5 prime UTR variant +1 more)	Meckel-Gruber syndrome +3 more	GLikely benign