"Eurofins Ntd Llc (ga)"[submitter] AND "LOC130061271"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 286568	NM_017777.4(MKS1):c.52C>A (p.Arg18=)	LOC130061271, MKS1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial aplasia of the vermis +2 more	GConflicting classifications of pathogenicity
Select item 595787	NM_017777.4(MKS1):c.36G>T (p.Glu12Asp)	LOC130061271, MKS1 (E12D)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 596728	NM_017777.4(MKS1):c.32G>C (p.Gly11Ala)	LOC130061271, MKS1 (G11A)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial aplasia of the vermis +3 more	GUncertain significance
Select item 287924	NM_017777.4(MKS1):c.30C>G (p.Thr10=)	LOC130061271, MKS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 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)	not provided +3 more	GLikely benign

ClinVar