"PreventionGenetics, part of Exact Sciences"[submitter] AND "TMTC3"[ge - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 749311	NM_181783.4(TMTC3):c.324C>T (p.Leu108=)	TMTC3	Single nucleotide variant (synonymous variant +2 more)	TMTC3-related disorder +1 more	GLikely benign
Select item 723618	NM_181783.4(TMTC3):c.335A>G (p.Lys112Arg)	TMTC3 (K112R +2 more)	Single nucleotide variant (missense variant +2 more)	TMTC3-related disorder +1 more	GBenign
Select item 1532158	NM_181783.4(TMTC3):c.541G>A (p.Val181Met)	TMTC3 (V108M +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 3055108	NM_181783.4(TMTC3):c.786A>G (p.Pro262=)	TMTC3	Single nucleotide variant (synonymous variant +1 more)	TMTC3-related disorder	GLikely benign
Select item 1578931	NM_181783.4(TMTC3):c.870T>C (p.Asn290=)	TMTC3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1902919	NM_181783.4(TMTC3):c.1051-6_1051-5dup	TMTC3	Duplication (intron variant)	TMTC3-related disorder +1 more	GBenign/Likely benign
Select item 2629922	NM_181783.4(TMTC3):c.1321-4del	TMTC3	Deletion (intron variant)	TMTC3-related disorder	GUncertain significance
Select item 1669382	NM_181783.4(TMTC3):c.1433-3T>C	TMTC3	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 3035735	NM_181783.4(TMTC3):c.1503A>G (p.Glu501=)	TMTC3	Single nucleotide variant (synonymous variant +1 more)	TMTC3-related disorder	GLikely benign
Select item 786609	NM_181783.4(TMTC3):c.1515G>A (p.Met505Ile)	TMTC3 (M505I +4 more)	Single nucleotide variant (missense variant +1 more)	TMTC3-related disorder +1 more	GBenign
Select item 3054860	NM_181783.4(TMTC3):c.1536+3A>G	TMTC3	Single nucleotide variant (intron variant)	TMTC3-related disorder	GLikely benign
Select item 3030416	NM_181783.4(TMTC3):c.1933+3A>G	TMTC3	Single nucleotide variant (intron variant)	TMTC3-related disorder	GLikely benign
Select item 788437	NM_181783.4(TMTC3):c.2552G>A (p.Gly851Asp)	TMTC3 (G778D +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 779531	NM_181783.4(TMTC3):c.2575G>A (p.Val859Ile)	TMTC3 (V786I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1584178	NM_181783.4(TMTC3):c.2607A>G (p.Lys869=)	TMTC3	Single nucleotide variant (synonymous variant +1 more)	TMTC3-related disorder +1 more	GLikely benign