TMPRSS5[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	LOC130006930, LOC130006931 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	ABCG4, ACRV1 +774 more	Copy number gain	See cases	GPathogenic
Select item 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	ABCG4, APOA1 +355 more	Copy number gain	See cases	GPathogenic
Select item 1179359	NM_030770.4(TMPRSS5):c.*137C>T	TMPRSS5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1318211	NM_030770.4(TMPRSS5):c.*92C>T	TMPRSS5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1317766	NM_030770.4(TMPRSS5):c.1360-55C>T	TMPRSS5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 508619	NM_030770.4(TMPRSS5):c.1359+10G>A	TMPRSS5	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2365958	NM_030770.4(TMPRSS5):c.1265T>G (p.Val422Gly)	TMPRSS5 (V378G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3039003	NM_030770.4(TMPRSS5):c.1260G>A (p.Val420=)	TMPRSS5	Single nucleotide variant (synonymous variant +1 more)	TMPRSS5-related disorder	GLikely benign
Select item 3179923	NM_030770.4(TMPRSS5):c.1253G>A (p.Arg418His)	TMPRSS5 (R305H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1276785	NM_030770.4(TMPRSS5):c.1206+47T>G	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 682805	NM_030770.4(TMPRSS5):c.1206+35T>G	LOC126861343, TMPRSS5	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 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 786214	NM_030770.4(TMPRSS5):c.1143C>T (p.Ser381=)	LOC126861343, TMPRSS5	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 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
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 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 1291922	NM_030770.4(TMPRSS5):c.1063+142T>G	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 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 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)	LOC126861343, TMPRSS5 (A326S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 682698	NM_030770.4(TMPRSS5):c.965-66C>T	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 1287129	NM_030770.4(TMPRSS5):c.964+234G>T	TMPRSS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272190	NM_030770.4(TMPRSS5):c.964+233G>C	TMPRSS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278597	NM_030770.4(TMPRSS5):c.964+219A>T	TMPRSS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261846	NM_030770.4(TMPRSS5):c.964+105T>C	TMPRSS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2223073	NM_030770.4(TMPRSS5):c.928G>A (p.Ala310Thr)	TMPRSS5 (A241T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569937	NM_030770.4(TMPRSS5):c.887C>T (p.Pro296Leu)	TMPRSS5 (P183L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179929	NM_030770.4(TMPRSS5):c.880A>T (p.Ile294Phe)	TMPRSS5 (I225F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345760	NM_030770.4(TMPRSS5):c.847G>A (p.Val283Ile)	TMPRSS5 (V274I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555300	NM_030770.4(TMPRSS5):c.839A>C (p.His280Pro)	TMPRSS5 (H236P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319550	NM_030770.4(TMPRSS5):c.821A>G (p.His274Arg)	TMPRSS5 (H161R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3052116	NM_030770.4(TMPRSS5):c.786-4G>A	TMPRSS5	Single nucleotide variant (intron variant)	TMPRSS5-related disorder	GLikely benign
Select item 682697	NM_030770.4(TMPRSS5):c.786-41C>T	TMPRSS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279470	NM_030770.4(TMPRSS5):c.785+216dup	TMPRSS5	Duplication (intron variant)	not provided	GBenign
Select item 781235	NM_030770.4(TMPRSS5):c.751C>T (p.Arg251Cys)	TMPRSS5 (R242C +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 508633	NM_030770.4(TMPRSS5):c.747G>A (p.Ala249=)	TMPRSS5	Single nucleotide variant (synonymous variant +2 more)	not specified	GBenign
Select item 681393	NM_030770.4(TMPRSS5):c.733G>A (p.Gly245Ser)	TMPRSS5 (G201S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 680319	NM_030770.4(TMPRSS5):c.725C>T (p.Thr242Met)	TMPRSS5 (T198M +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2254625	NM_030770.4(TMPRSS5):c.706G>A (p.Ala236Thr)	TMPRSS5 (A236T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 508146	NM_030770.4(TMPRSS5):c.663G>T (p.Gly221=)	TMPRSS5	Single nucleotide variant (synonymous variant +2 more)	not specified	GBenign
Select item 714055	NM_030770.4(TMPRSS5):c.632C>T (p.Ala211Val)	TMPRSS5 (A202V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign/Likely benign
Select item 676046	NM_030770.4(TMPRSS5):c.601G>A (p.Val201Ile)	TMPRSS5 (V192I +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 730597	NM_030770.4(TMPRSS5):c.592T>A (p.Ser198Thr)	TMPRSS5 (S198T +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1297807	NM_030770.4(TMPRSS5):c.579-40G>A	TMPRSS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181165	NM_030770.4(TMPRSS5):c.579-42G>T	TMPRSS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271310	NM_030770.4(TMPRSS5):c.579-162G>T	TMPRSS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3179928	NM_030770.4(TMPRSS5):c.538C>T (p.Pro180Ser)	TMPRSS5 (P136S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269064	NM_030770.4(TMPRSS5):c.536C>T (p.Ser179Phe)	TMPRSS5 (S135F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 722749	NM_030770.4(TMPRSS5):c.517del (p.Gln173fs)	TMPRSS5 (Q164fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GBenign
Select item 2481829	NM_030770.4(TMPRSS5):c.489C>A (p.Asn163Lys)	TMPRSS5 (N154K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 513461	NM_030770.4(TMPRSS5):c.465-6G>A	TMPRSS5	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 3179927	NM_030770.4(TMPRSS5):c.448A>G (p.Ser150Gly)	TMPRSS5 (S141G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179926	NM_030770.4(TMPRSS5):c.388C>T (p.Arg130Cys)	TMPRSS5 (R86C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 676685	NM_030770.4(TMPRSS5):c.373G>A (p.Val125Met)	TMPRSS5 (V81M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2267704	NM_030770.4(TMPRSS5):c.348C>A (p.Ser116Arg)	TMPRSS5 (S72R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1258567	NM_030770.4(TMPRSS5):c.328+52A>C	TMPRSS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3179925	NM_030770.4(TMPRSS5):c.220C>T (p.Pro74Ser)	TMPRSS5 (P65S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1249377	NM_030770.4(TMPRSS5):c.206-186GACA[2]	TMPRSS5	Microsatellite (intron variant)	not provided	GBenign
Select item 1267243	NM_030770.4(TMPRSS5):c.206-184_206-179del	TMPRSS5	Deletion (intron variant)	not provided	GBenign
Select item 1261242	NM_030770.4(TMPRSS5):c.206-184C>G	TMPRSS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243983	NM_030770.4(TMPRSS5):c.206-188G>C	TMPRSS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277086	NM_030770.4(TMPRSS5):c.206-210G>C	TMPRSS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281953	NM_030770.4(TMPRSS5):c.206-219A>G	TMPRSS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225642	NM_030770.4(TMPRSS5):c.206-233A>G	TMPRSS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274102	NM_030770.4(TMPRSS5):c.205+109G>A	TMPRSS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3179924	NM_030770.4(TMPRSS5):c.194C>T (p.Ser65Leu)	TMPRSS5 (S21L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406155	NM_030770.4(TMPRSS5):c.178G>A (p.Gly60Ser)	TMPRSS5 (G16S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 508634	NM_030770.4(TMPRSS5):c.162C>T (p.Ala54=)	TMPRSS5	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1318425	NM_030770.4(TMPRSS5):c.139C>T (p.Arg47Cys)	TMPRSS5 (R38C +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 508123	NM_030770.4(TMPRSS5):c.137G>A (p.Arg46Gln)	TMPRSS5 (R46Q +2 more)	Single nucleotide variant (missense variant)	TMPRSS5-related disorder +1 more	GBenign
Select item 2456445	NM_030770.4(TMPRSS5):c.127C>T (p.Arg43Cys)	TMPRSS5 (R34C +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 508107	NM_030770.4(TMPRSS5):c.117A>G (p.Ala39=)	TMPRSS5	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign
Select item 1315677	NM_030770.4(TMPRSS5):c.107-55T>C	TMPRSS5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274646	NM_030770.4(TMPRSS5):c.107-75A>G	TMPRSS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318358	NM_030770.4(TMPRSS5):c.107-100G>A	TMPRSS5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317580	NM_030770.4(TMPRSS5):c.106+109G>A	TMPRSS5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 508106	NM_030770.4(TMPRSS5):c.42G>A (p.Gln14=)	TMPRSS5	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GBenign
Select item 2483219	NM_030770.4(TMPRSS5):c.31A>G (p.Met11Val)	TMPRSS5 (M11V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 1317540	NM_030770.4(TMPRSS5):c.3+42C>G	TMPRSS5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1258175	NM_030770.4(TMPRSS5):c.3+12T>C	TMPRSS5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3051958	NM_030770.4(TMPRSS5):c.3+6del	TMPRSS5	Deletion (intron variant)	TMPRSS5-related disorder	GLikely benign
Select item 1316265	NM_030770.4(TMPRSS5):c.-51G>A	TMPRSS5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1181074	NC_000011.10:g.113706310G>T	TMPRSS5	Single nucleotide variant	not provided	GBenign
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 1808702	GRCh37/hg19 11q22.3-23.3(chr11:109328787-116414966)x1	ALG9, ANKK1 +50 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1341168	GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3	ABCG4, ACRV1 +172 more	Copy number gain	not provided	GPathogenic
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	PCSK7, PGR +183 more	Copy number loss	not provided	GUncertain significance

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