C2673873[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 126272	NM_017777.4(MKS1):c.1671G>C (p.Leu557=)	MKS1 (G530R)	Single nucleotide variant (synonymous variant +2 more)	Bardet-Biedl syndrome 13 +5 more	GBenign
Select item 594938	NM_017777.4(MKS1):c.1465C>T (p.Arg489Cys)	MKS1 (R489C +1 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 13 +3 more	GUncertain significance
Select item 281123	NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr)	MKS1 (I450T +1 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 13 +6 more	GConflicting classifications of pathogenicity
Select item 683187	NM_017777.4(MKS1):c.1024+128C>T	MKS1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 126274	NM_017777.4(MKS1):c.858+9A>G	MKS1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +6 more	GBenign
Select item 546082	NM_017777.4(MKS1):c.763G>C (p.Gly255Arg)	MKS1 (G255R +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +6 more	GUncertain significance
Select item 674917	NM_017777.4(MKS1):c.750-105T>C	MKS1	Single nucleotide variant (intron variant)	Joubert syndrome 28 +2 more	GBenign
Select item 594241	NM_017777.4(MKS1):c.728C>T (p.Thr243Met)	MKS1 (T243M +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 674992	NM_017777.4(MKS1):c.261+67A>G	MKS1	Single nucleotide variant (intron variant)	Joubert syndrome 28 +2 more	GBenign
Select item 126273	NM_017777.4(MKS1):c.191-44G>A	MKS1	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 13 +3 more	GBenign
Select item 550954	NM_017777.4(MKS1):c.190+2T>C	MKS1	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 13 +5 more	GLikely pathogenic