"Ambry Genetics"[submitter] AND "TMTC3"[gene] - ClinVar

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

Search results

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1033238	NM_181783.4(TMTC3):c.10A>G (p.Ile4Val)	TMTC3 (I4V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2258636	NM_181783.4(TMTC3):c.272C>T (p.Ser91Leu)	TMTC3 (S91L +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2467083	NM_181783.4(TMTC3):c.346G>C (p.Asp116His)	TMTC3 (D27H +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2336746	NM_181783.4(TMTC3):c.394A>G (p.Ile132Val)	TMTC3 (I72V +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 1559253	NM_181783.4(TMTC3):c.509-6T>C	TMTC3	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2373088	NM_181783.4(TMTC3):c.631T>G (p.Leu211Val)	TMTC3 (L151V +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2277934	NM_181783.4(TMTC3):c.694A>G (p.Met232Val)	TMTC3 (M159V +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1363766	NM_181783.4(TMTC3):c.716T>C (p.Leu239Pro)	TMTC3 (L166P +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2619071	NM_181783.4(TMTC3):c.730T>G (p.Phe244Val)	TMTC3 (F155V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2059433	NM_181783.4(TMTC3):c.895G>C (p.Glu299Gln)	TMTC3 (E210Q +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2231840	NM_181783.4(TMTC3):c.936A>G (p.Ile312Met)	TMTC3 (I223M +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2310517	NM_181783.4(TMTC3):c.996G>T (p.Met332Ile)	TMTC3 (M332I +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2489671	NM_181783.4(TMTC3):c.1010G>T (p.Ser337Ile)	TMTC3 (S277I +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2057107	NM_181783.4(TMTC3):c.1279G>T (p.Asp427Tyr)	TMTC3 (D196Y +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1925664	NM_181783.4(TMTC3):c.1388A>C (p.Glu463Ala)	TMTC3 (E374A +4 more)	Single nucleotide variant (missense variant +1 more)	Lissencephaly 8 +2 more	GUncertain significance
Select item 2532711	NM_181783.4(TMTC3):c.1432+5G>A	TMTC3	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2048414	NM_181783.4(TMTC3):c.1619C>A (p.Ala540Glu)	TMTC3 (A309E +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2256612	NM_181783.4(TMTC3):c.1658G>A (p.Arg553His)	TMTC3 (R493H +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2233684	NM_181783.4(TMTC3):c.1739T>A (p.Leu580His)	TMTC3 (L491H +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2290383	NM_181783.4(TMTC3):c.1777G>T (p.Asp593Tyr)	TMTC3 (D520Y +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2534149	NM_181783.4(TMTC3):c.2018A>G (p.Asn673Ser)	TMTC3 (N584S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2231005	NM_181783.4(TMTC3):c.2384T>G (p.Leu795Arg)	TMTC3 (L564R +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2212795	NM_181783.4(TMTC3):c.2633G>A (p.Gly878Glu)	TMTC3 (G789E +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2402337	NM_181783.4(TMTC3):c.2726G>A (p.Arg909His)	TMTC3 (R820H +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2494901	NM_181783.4(TMTC3):c.2729T>A (p.Ile910Asn)	TMTC3 (I679N +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 25