"Ambry Genetics"[submitter] AND "RHOT1"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2597624	NM_001033566.3(RHOT1):c.317A>G (p.Asp106Gly)	RHOT1 (D106G +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2410294	NM_001033566.3(RHOT1):c.571C>T (p.Arg191Cys)	RHOT1 (R64C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2399740	NM_001033566.3(RHOT1):c.692A>G (p.Asn231Ser)	RHOT1 (N231S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2363349	NM_001033566.3(RHOT1):c.729C>A (p.Asp243Glu)	RHOT1 (D116E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2610968	NM_001033566.3(RHOT1):c.1010C>T (p.Pro337Leu)	RHOT1 (P210L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2623489	NM_001033566.3(RHOT1):c.1294A>G (p.Ser432Gly)	RHOT1 (S411G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2258939	NM_001033566.3(RHOT1):c.1387T>C (p.Tyr463His)	RHOT1 (Y463H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2245975	NM_001033566.3(RHOT1):c.1553G>A (p.Ser518Asn)	RHOT1 (S518N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2563935	NM_001033566.3(RHOT1):c.1691C>G (p.Ala564Gly)	RHOT1 (A543G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2386561	NM_001033566.3(RHOT1):c.1739+1063C>T	RHOT1 (L461F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2326085	NM_001033566.3(RHOT1):c.1739+1112T>A	RHOT1 (I477N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2224321	NM_001033566.3(RHOT1):c.1766C>T (p.Thr589Ile)	RHOT1 (T621I +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2337002	NM_001033566.3(RHOT1):c.1976G>A (p.Arg659Gln)	RHOT1 (R523Q +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance