Related gene-specific medical variations for Gene (Select 80975) - ClinVar

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Links from Gene

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3179922	NM_030770.4(TMPRSS5):c.1112C>G (p.Thr371Ser)	LOC126861343, TMPRSS5 (T258S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3042752	NM_030770.4(TMPRSS5):c.1092G>C (p.Thr364=)	LOC126861343, TMPRSS5	Single nucleotide variant (synonymous variant +1 more)	TMPRSS5-related disorder	GLikely benign
Select item 2486014	NM_030770.4(TMPRSS5):c.1080G>A (p.Met360Ile)	LOC126861343, TMPRSS5 (M316I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370944	NM_030770.4(TMPRSS5):c.1021C>T (p.Arg341Trp)	LOC126861343, TMPRSS5 (R272W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1318142	NM_030770.4(TMPRSS5):c.1159C>T (p.Arg387Cys)	LOC126861343, TMPRSS5 (R274C +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1317769	NM_030770.4(TMPRSS5):c.1171G>T (p.Ala391Ser)	LOC126861343, TMPRSS5 (A278S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1291922	NM_030770.4(TMPRSS5):c.1063+142T>G	LOC126861343, TMPRSS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278879	NM_030770.4(TMPRSS5):c.965-119G>A	LOC126861343, TMPRSS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276785	NM_030770.4(TMPRSS5):c.1206+47T>G	LOC126861343, TMPRSS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272551	NM_030770.4(TMPRSS5):c.1064-152A>G	LOC126861343, TMPRSS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259396	NM_030770.4(TMPRSS5):c.1064-161C>T	LOC126861343, TMPRSS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220624	NM_030770.4(TMPRSS5):c.1063+81del	LOC126861343, TMPRSS5	Deletion (intron variant)	not provided	GBenign
Select item 786214	NM_030770.4(TMPRSS5):c.1143C>T (p.Ser381=)	LOC126861343, TMPRSS5	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 682805	NM_030770.4(TMPRSS5):c.1206+35T>G	LOC126861343, TMPRSS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682698	NM_030770.4(TMPRSS5):c.965-66C>T	LOC126861343, TMPRSS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675054	NM_030770.4(TMPRSS5):c.1206+41T>G	LOC126861343, TMPRSS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 563810	GRCh37/hg19 11q23.2(chr11:113503222-113580099)x1	TMPRSS5	Copy number loss	not provided	GLikely benign
Select item 513900	NM_030770.4(TMPRSS5):c.1190G>A (p.Arg397Lys)	LOC126861343, TMPRSS5 (R397K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GConflicting classifications of pathogenicity
Select item 509182	NM_030770.4(TMPRSS5):c.1017C>T (p.Gly339=)	LOC126861343, TMPRSS5	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 508709	NM_030770.4(TMPRSS5):c.976G>T (p.Ala326Ser)	TMPRSS5, LOC126861343 (A326S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 508635	NM_030770.4(TMPRSS5):c.1158C>T (p.Pro386=)	LOC126861343, TMPRSS5	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 508576	NM_030770.4(TMPRSS5):c.1134C>T (p.Cys378=)	LOC126861343, TMPRSS5	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign
Select item 508109	NM_030770.4(TMPRSS5):c.1105T>C (p.Phe369Leu)	LOC126861343, TMPRSS5 (F369L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign
Select item 508108	NM_030770.4(TMPRSS5):c.1102T>C (p.Leu368=)	LOC126861343, TMPRSS5	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign

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Links from Gene

Items: 24