Related gene-specific medical variations for Gene (Select 26517) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3327381	NM_001395513.1(TMPRSS9):c.3191G>C (p.Trp1064Ser)	TIMM13, TMPRSS9 (W1030S +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3326177	NM_012458.4(TIMM13):c.235A>G (p.Thr79Ala)	LOC106804547, TIMM13 (T79A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179989	NM_001395513.1(TMPRSS9):c.3253G>A (p.Gly1085Ser)	TIMM13, TMPRSS9 (G1051S +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3179987	NM_001395513.1(TMPRSS9):c.3199G>A (p.Gly1067Ser)	TIMM13, TMPRSS9 (G1033S +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3179986	NM_001395513.1(TMPRSS9):c.3176C>G (p.Thr1059Ser)	TIMM13, TMPRSS9 (T1025S +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3179985	NM_001395513.1(TMPRSS9):c.3153G>C (p.Glu1051Asp)	TIMM13, TMPRSS9 (E1051D +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3177527	NM_012458.4(TIMM13):c.119A>G (p.Gln40Arg)	LOC106804547, TIMM13 (Q40R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594263	NM_001395513.1(TMPRSS9):c.3272T>C (p.Ile1091Thr)	TIMM13, TMPRSS9 (I1057T +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2543240	NM_012458.4(TIMM13):c.56C>G (p.Pro19Arg)	LOC106804547, TIMM13 (P19R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519167	NM_012458.4(TIMM13):c.242C>T (p.Ser81Phe)	LOC106804547, TIMM13 (S81F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366512	NM_001395513.1(TMPRSS9):c.3215A>C (p.His1072Pro)	TIMM13, TMPRSS9 (H1038P +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2359249	NM_001395513.1(TMPRSS9):c.3126C>G (p.Asp1042Glu)	TIMM13, TMPRSS9 (D1008E +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2339850	NM_012458.4(TIMM13):c.134A>G (p.Lys45Arg)	LOC106804547, TIMM13 (K45R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306525	NM_001395513.1(TMPRSS9):c.3157T>G (p.Ser1053Ala)	TIMM13, TMPRSS9 (S1019A +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2277411	NM_012458.4(TIMM13):c.35C>T (p.Ser12Phe)	LOC106804547, TIMM13 (S12F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245589	NM_001395513.1(TMPRSS9):c.3164G>A (p.Arg1055Gln)	TIMM13, TMPRSS9 (R1055Q +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2222036	NM_001395513.1(TMPRSS9):c.3142G>C (p.Ala1048Pro)	TIMM13, TMPRSS9 (A1014P +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2222035	NM_001395513.1(TMPRSS9):c.3136C>T (p.Pro1046Ser)	TIMM13, TMPRSS9 (P1012S +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2208219	NM_001395513.1(TMPRSS9):c.3214C>G (p.His1072Asp)	TIMM13, TMPRSS9 (H840D +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 783812	NM_001395513.1(TMPRSS9):c.3233C>T (p.Thr1078Ile)	TIMM13, TMPRSS9 (T1044I +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign

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Items: 20