C3714506[trait identifier] AND "Myriad Genetics, Inc."[submitter] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1725690	NM_017777.4(MKS1):c.1480C>T (p.Gln494Ter)	MKS1 (Q291* +1 more)	Single nucleotide variant (nonsense +1 more)	Meckel syndrome, type 1 +4 more	GPathogenic/Likely pathogenic
Select item 1724356	NM_017777.4(MKS1):c.1411_1412delinsT (p.Glu471fs)	MKS1 (E268fs +1 more)	Indel (frameshift variant +1 more)	Bardet-Biedl syndrome 13 +2 more	GLikely pathogenic
Select item 188400	NM_017777.4(MKS1):c.1408-34_1408-6del	MKS1	Deletion (intron variant)	Bardet-Biedl syndrome 13 +7 more	GPathogenic
Select item 1726823	NM_017777.4(MKS1):c.1383T>A (p.Tyr461Ter)	MKS1 (Y258* +1 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 13 +2 more	GLikely pathogenic
Select item 1387955	NM_017777.4(MKS1):c.1071del (p.Cys358fs)	MKS1 (C155fs +1 more)	Deletion (frameshift variant)	Meckel syndrome, type 1 +4 more	GPathogenic/Likely pathogenic
Select item 1725016	NM_017777.4(MKS1):c.1032_1035del (p.Ser345fs)	MKS1 (S142fs +1 more)	Deletion (frameshift variant)	Joubert syndrome 28 +2 more	GLikely pathogenic
Select item 1725135	NM_017777.4(MKS1):c.1009G>T (p.Glu337Ter)	MKS1 (E134* +1 more)	Single nucleotide variant (nonsense)	Joubert syndrome 28 +2 more	GLikely pathogenic
Select item 1726560	NM_017777.4(MKS1):c.992del (p.Tyr331fs)	MKS1 (Y128fs +1 more)	Deletion (frameshift variant)	Bardet-Biedl syndrome 13 +2 more	GLikely pathogenic
Select item 1724385	NM_017777.4(MKS1):c.949G>T (p.Gly317Ter)	MKS1 (G114* +1 more)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 13 +2 more	GLikely pathogenic
Select item 1726316	NM_017777.4(MKS1):c.946_947del (p.Asn316fs)	MKS1 (N113fs +1 more)	Deletion (frameshift variant)	Joubert syndrome 28 +2 more	GLikely pathogenic
Select item 1726037	NM_017777.4(MKS1):c.832G>T (p.Glu278Ter)	MKS1 (E278* +1 more)	Single nucleotide variant (nonsense)	Joubert syndrome 28 +2 more	GLikely pathogenic
Select item 1725139	NM_017777.4(MKS1):c.782G>A (p.Trp261Ter)	MKS1 (W261* +1 more)	Single nucleotide variant (nonsense)	Joubert syndrome 28 +2 more	GLikely pathogenic
Select item 1726012	NM_017777.4(MKS1):c.727_728del (p.Thr243fs)	MKS1 (T243fs +1 more)	Deletion (frameshift variant)	Joubert syndrome 28 +2 more	GLikely pathogenic
Select item 1726010	NM_017777.4(MKS1):c.715_716del (p.Lys239fs)	MKS1 (K239fs +1 more)	Deletion (frameshift variant)	Joubert syndrome 28 +2 more	GLikely pathogenic
Select item 1379652	NM_017777.4(MKS1):c.658A>T (p.Lys220Ter)	MKS1 (K17* +1 more)	Single nucleotide variant (nonsense)	Meckel syndrome, type 1 +4 more	GPathogenic/Likely pathogenic
Select item 1723973	NM_017777.4(MKS1):c.632_633del (p.Gly211fs)	MKS1 (G211fs +1 more)	Deletion (frameshift variant)	Bardet-Biedl syndrome 13 +2 more	GLikely pathogenic
Select item 1724976	NM_017777.4(MKS1):c.537_538del (p.Arg180fs)	MKS1 (R180fs)	Deletion (5 prime UTR variant +1 more)	Joubert syndrome 28 +2 more	GLikely pathogenic
Select item 1725012	NM_017777.4(MKS1):c.435del (p.Thr146fs)	MKS1 (T146fs)	Deletion (frameshift variant +1 more)	Joubert syndrome 28 +2 more	GLikely pathogenic
Select item 1724504	NM_017777.4(MKS1):c.241C>T (p.Gln81Ter)	MKS1 (Q81*)	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 13 +2 more	GLikely pathogenic