"GeneDx"[submitter] AND "TMTC3"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1288129	NM_181783.4(TMTC3):c.-28-145C>T	TMTC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250737	NM_181783.4(TMTC3):c.190-86A>G	TMTC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234100	NM_181783.4(TMTC3):c.409-57A>G	TMTC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281531	NM_181783.4(TMTC3):c.509-196A>C	TMTC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180271	NM_181783.4(TMTC3):c.797+117A>C	TMTC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 488948	NM_181783.4(TMTC3):c.955C>T (p.Arg319Ter)	TMTC3 (R319* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 1246216	NM_181783.4(TMTC3):c.1051-40A>T	TMTC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276561	NM_181783.4(TMTC3):c.1051-5dup	TMTC3	Duplication (intron variant)	not provided	GBenign
Select item 1170483	NM_181783.4(TMTC3):c.1051-5del	TMTC3	Deletion (intron variant)	not provided	GBenign
Select item 1800718	NM_181783.4(TMTC3):c.1127G>A (p.Arg376Gln)	TMTC3 (R145Q +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1224209	NM_181783.4(TMTC3):c.1321-102C>T	TMTC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1167169	NM_181783.4(TMTC3):c.1433-17T>G	TMTC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290083	NM_181783.4(TMTC3):c.1933+150A>G	TMTC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1702725	NM_181783.4(TMTC3):c.2333G>A (p.Cys778Tyr)	TMTC3 (C547Y +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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	GBenign
Select item 504004	NM_181783.4(TMTC3):c.2687_2691del (p.Lys896fs)	TMTC3 (K665fs +4 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance