"TRMU-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3031221	NM_018006.5(TRMU):c.-51A>C	TRMU	Single nucleotide variant (5 prime UTR variant +1 more)	TRMU-related disorder	GLikely benign
Select item 342003	NM_018006.5(TRMU):c.-35G>A	TRMU	Single nucleotide variant (5 prime UTR variant +1 more)	TRMU-related disorder +1 more	GUncertain significance
Select item 342004	NM_018006.5(TRMU):c.-19G>C	TRMU	Single nucleotide variant (5 prime UTR variant +1 more)	TRMU-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1083033	NM_018006.5(TRMU):c.6G>A (p.Gln2=)	TRMU	Single nucleotide variant (5 prime UTR variant +2 more)	TRMU-related disorder +1 more	GLikely benign
Select item 2633537	NM_018006.5(TRMU):c.11T>C (p.Leu4Ser)	TRMU (L4S)	Single nucleotide variant (missense variant +2 more)	TRMU-related disorder	GUncertain significance
Select item 594125	NM_018006.5(TRMU):c.74G>A (p.Arg25Lys)	TRMU (R25K)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 1291	NM_018006.5(TRMU):c.229T>C (p.Tyr77His)	TRMU (Y77H)	Single nucleotide variant (5 prime UTR variant +2 more)	TRMU-related disorder +2 more	GPathogenic
Select item 2633214	NM_018006.5(TRMU):c.248+1G>A	TRMU	Single nucleotide variant (splice donor variant)	TRMU-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 286863	NM_018006.5(TRMU):c.296T>C (p.Ile99Thr)	TRMU (I99T)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3040708	NM_018006.5(TRMU):c.342T>G (p.Ala114=)	TRMU	Single nucleotide variant (synonymous variant +2 more)	TRMU-related disorder	GLikely benign
Select item 1091151	NM_018006.5(TRMU):c.369T>C (p.Ile123=)	TRMU (L3S)	Single nucleotide variant (synonymous variant +2 more)	TRMU-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 511011	NM_018006.5(TRMU):c.479-10T>C	TRMU	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 501611	NM_018006.5(TRMU):c.579G>T (p.Gly193=)	TRMU	Single nucleotide variant (synonymous variant +1 more)	TRMU-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1603648	NM_018006.5(TRMU):c.652-4dup	TRMU	Duplication (intron variant)	TRMU-related disorder +1 more	GLikely benign
Select item 286352	NM_018006.5(TRMU):c.772+8G>A	TRMU	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 899871	NM_018006.5(TRMU):c.773-4G>A	TRMU	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2822283	NM_018006.5(TRMU):c.783G>A (p.Leu261=)	TRMU	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 342008	NM_018006.5(TRMU):c.853G>A (p.Val285Ile)	TRMU (V285I +2 more)	Single nucleotide variant (missense variant +1 more)	TRMU-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1616423	NM_018006.5(TRMU):c.867G>A (p.Val289=)	TRMU	Single nucleotide variant (synonymous variant +1 more)	TRMU-related disorder +1 more	GLikely benign
Select item 3029512	NM_018006.5(TRMU):c.874-4G>T	TRMU	Single nucleotide variant (intron variant)	TRMU-related disorder	GLikely benign
Select item 763623	NM_018006.5(TRMU):c.910C>G (p.Leu304Val)	TRMU (L164V +2 more)	Single nucleotide variant (missense variant +1 more)	TRMU-related disorder +2 more	GBenign/Likely benign
Select item 342012	NM_018006.5(TRMU):c.927C>T (p.Arg309=)	TRMU	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 2634881	NM_018006.5(TRMU):c.993C>G (p.Phe331Leu)	TRMU (F191L +2 more)	Single nucleotide variant (missense variant +1 more)	TRMU-related disorder	GUncertain significance
Select item 3039296	NM_018006.5(TRMU):c.1040A>C (p.Asn347Thr)	TRMU (N207T +2 more)	Single nucleotide variant (missense variant +2 more)	TRMU-related disorder	GUncertain significance
Select item 507941	NM_018006.5(TRMU):c.1053C>T (p.Thr351=)	TRMU	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 2636648	NM_018006.5(TRMU):c.1054G>T (p.Val352Leu)	TRMU (V212L +2 more)	Single nucleotide variant (missense variant +2 more)	TRMU-related disorder	GUncertain significance
Select item 2509498	NM_018006.5(TRMU):c.1082G>A (p.Arg361His)	TRMU (R221H +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 342017	NM_018006.5(TRMU):c.1164G>A (p.Pro388=)	TRMU (V221I +1 more)	Single nucleotide variant (synonymous variant +2 more)	TRMU-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 2142423	NM_018006.5(TRMU):c.1232C>T (p.Pro411Leu)	TRMU (P297L +2 more)	Single nucleotide variant (missense variant +2 more)	TRMU-related disorder +1 more	GUncertain significance

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Items: 29