"TRMT5-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 692099	NM_020810.3(TRMT5):c.1481C>T (p.Thr494Met)	TRMT5 (T494M +2 more)	Single nucleotide variant (missense variant)	TRMT5-related condition +1 more	GLikely benign
Select item 3050603	NM_020810.3(TRMT5):c.1419C>G (p.Leu473=)	TRMT5	Single nucleotide variant (synonymous variant)	TRMT5-related condition	GLikely benign
Select item 717231	NM_020810.3(TRMT5):c.1283C>T (p.Ala428Val)	TRMT5 (A455V +2 more)	Single nucleotide variant (missense variant)	TRMT5-related condition +1 more	GLikely benign
Select item 1588284	NM_020810.3(TRMT5):c.1192G>A (p.Ala398Thr)	TRMT5 (A398T +2 more)	Single nucleotide variant (missense variant)	TRMT5-related condition +1 more	GLikely benign
Select item 1665813	NM_020810.3(TRMT5):c.1150G>A (p.Val384Ile)	TRMT5 (V384I +2 more)	Single nucleotide variant (missense variant)	TRMT5-related condition +1 more	GLikely benign
Select item 710037	NM_020810.3(TRMT5):c.1099G>C (p.Glu367Gln)	TRMT5 (E395Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 749958	NM_020810.3(TRMT5):c.987T>C (p.Asn329=)	TRMT5	Single nucleotide variant (synonymous variant)	TRMT5-related condition +1 more	GLikely benign
Select item 2644272	NM_020810.3(TRMT5):c.888C>G (p.Leu296=)	TRMT5	Single nucleotide variant (synonymous variant)	TRMT5-related condition +1 more	GLikely benign
Select item 717013	NM_020810.3(TRMT5):c.840T>C (p.Tyr280=)	TRMT5	Single nucleotide variant (synonymous variant)	TRMT5-related condition +1 more	GBenign
Select item 779445	NM_020810.3(TRMT5):c.667+4C>G	TRMT5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 742833	NM_020810.3(TRMT5):c.635G>A (p.Arg212Gln)	TRMT5 (R212Q +2 more)	Single nucleotide variant (missense variant)	TRMT5-related condition +1 more	GLikely benign
Select item 779446	NM_020810.3(TRMT5):c.469A>T (p.Ser157Cys)	TRMT5 (S185C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 787945	NM_020810.3(TRMT5):c.231T>C (p.Ser77=)	TRMT5	Single nucleotide variant (synonymous variant)	TRMT5-related condition +1 more	GBenign/Likely benign
Select item 1879280	NM_020810.3(TRMT5):c.222A>G (p.Ser74=)	TRMT5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1905951	NM_020810.3(TRMT5):c.214T>C (p.Leu72=)	TRMT5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 715049	NM_020810.3(TRMT5):c.70A>G (p.Ile24Val)	TRMT5 (I51V +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 26 +2 more	GBenign/Likely benign
Select item 3048691	NM_020810.3(TRMT5):c.11+90G>A	TRMT5	Single nucleotide variant (synonymous variant +1 more)	TRMT5-related condition	GLikely benign
Select item 3054908	NM_020810.3(TRMT5):c.11+24G>C	TRMT5	Single nucleotide variant (5 prime UTR variant +1 more)	TRMT5-related condition	GLikely benign
Select item 3043369	NM_020810.3(TRMT5):c.-55G>T	LOC130055775, TRMT5 (G31W)	Single nucleotide variant (missense variant +1 more)	TRMT5-related condition	GBenign
Select item 3052703	NM_020810.3(TRMT5):c.-101A>C	LOC130055775, TRMT5 (E15D)	Single nucleotide variant (missense variant +1 more)	TRMT5-related condition	GBenign

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Items: 20