TMPRSS9[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC116276498, LOC121627842 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	See cases	GPathogenic
Select item 57357	GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	ABCA7, ABHD17A +429 more	Copy number gain	See cases	GPathogenic
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	ABCA7, ABHD17A +453 more	Copy number gain	See cases	GLikely pathogenic
Select item 147726	GRCh38/hg38 19p13.3(chr19:1351163-2555149)x3	ABHD17A, ADAMTSL5 +219 more	Copy number gain	See cases	GUncertain significance
Select item 145414	GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1	ABHD17A, ADAT3 +387 more	Copy number loss	See cases	GPathogenic
Select item 59081	GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3	ABHD17A, ADAT3 +362 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063246, LOC130063247 +810 more	Copy number gain	See cases	GPathogenic
Select item 743473	NM_001395513.1(TMPRSS9):c.21C>T (p.Asp7=)	TMPRSS9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2309087	NM_001395513.1(TMPRSS9):c.31G>A (p.Val11Met)	TMPRSS9 (V11M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2648970	NM_001395513.1(TMPRSS9):c.48G>C (p.Lys16Asn)	TMPRSS9 (K16N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3179990	NM_001395513.1(TMPRSS9):c.83C>G (p.Ala28Gly)	TMPRSS9 (A28G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298572	NM_001395513.1(TMPRSS9):c.83C>T (p.Ala28Val)	TMPRSS9 (A28V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2472290	NM_001395513.1(TMPRSS9):c.191G>A (p.Arg64Gln)	TMPRSS9 (R64Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2334909	NM_001395513.1(TMPRSS9):c.193G>A (p.Gly65Arg)	TMPRSS9 (G65R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2347378	NM_001395513.1(TMPRSS9):c.199C>T (p.Arg67Trp)	TMPRSS9 (R67W)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2594939	NM_001395513.1(TMPRSS9):c.218G>A (p.Arg73Gln)	TMPRSS9 (R73Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2602764	NM_001395513.1(TMPRSS9):c.245C>T (p.Thr82Met)	TMPRSS9 (T82M)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2209922	NM_001395513.1(TMPRSS9):c.412G>A (p.Gly138Ser)	TMPRSS9 (G104S +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2548387	NM_001395513.1(TMPRSS9):c.416T>A (p.Leu139Gln)	TMPRSS9 (L139Q +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2359458	NM_001395513.1(TMPRSS9):c.433C>G (p.Gln145Glu)	TMPRSS9 (Q111E +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2569100	NM_001395513.1(TMPRSS9):c.437G>A (p.Arg146Gln)	TMPRSS9 (R146Q +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2494368	NM_001395513.1(TMPRSS9):c.446G>A (p.Arg149Gln)	TMPRSS9 (R115Q +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2366736	NM_001395513.1(TMPRSS9):c.560G>A (p.Arg187His)	TMPRSS9 (R153H +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2648971	NM_001395513.1(TMPRSS9):c.662C>T (p.Ala221Val)	TMPRSS9 (A187V +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2324192	NM_001395513.1(TMPRSS9):c.689C>G (p.Ala230Gly)	TMPRSS9 (A196G +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2648972	NM_001395513.1(TMPRSS9):c.747G>A (p.Pro249=)	TMPRSS9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2353096	NM_001395513.1(TMPRSS9):c.763C>G (p.Arg255Gly)	TMPRSS9 (R221G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518736	NM_001395513.1(TMPRSS9):c.764G>C (p.Arg255Pro)	TMPRSS9 (R23P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561477	NM_001395513.1(TMPRSS9):c.793G>A (p.Ala265Thr)	TMPRSS9 (A231T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2225132	NM_001395513.1(TMPRSS9):c.799A>C (p.Ile267Leu)	TMPRSS9 (I35L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514191	NM_001395513.1(TMPRSS9):c.815T>C (p.Leu272Pro)	TMPRSS9 (L238P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322375	NM_001395513.1(TMPRSS9):c.850G>T (p.Asp284Tyr)	TMPRSS9 (D250Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360590	NM_001395513.1(TMPRSS9):c.854C>T (p.Pro285Leu)	TMPRSS9 (P285L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394602	NM_001395513.1(TMPRSS9):c.857C>T (p.Thr286Met)	TMPRSS9 (T286M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569571	NM_001395513.1(TMPRSS9):c.899C>T (p.Ser300Leu)	TMPRSS9 (S300L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622280	NM_001395513.1(TMPRSS9):c.925G>C (p.Val309Leu)	TMPRSS9 (V275L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1321300	NM_001395513.1(TMPRSS9):c.970G>A (p.Asp324Asn)	TMPRSS9 (D290N +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2470080	NM_001395513.1(TMPRSS9):c.979G>A (p.Val327Met)	TMPRSS9 (V293M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396215	NM_001395513.1(TMPRSS9):c.1015G>A (p.Gly339Ser)	TMPRSS9 (G339S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179991	NM_001395513.1(TMPRSS9):c.1024A>G (p.Ile342Val)	TMPRSS9 (I342V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2542327	NM_001395513.1(TMPRSS9):c.1026C>G (p.Ile342Met)	TMPRSS9 (I308M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179992	NM_001395513.1(TMPRSS9):c.1033G>A (p.Val345Met)	TMPRSS9 (V345M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179994	NM_001395513.1(TMPRSS9):c.1051A>G (p.Thr351Ala)	TMPRSS9 (T119A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357967	NM_001395513.1(TMPRSS9):c.1077G>T (p.Lys359Asn)	TMPRSS9 (K325N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482038	NM_001395513.1(TMPRSS9):c.1079G>A (p.Cys360Tyr)	TMPRSS9 (C360Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179966	NM_001395513.1(TMPRSS9):c.1131G>C (p.Glu377Asp)	TMPRSS9 (E343D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549014	NM_001395513.1(TMPRSS9):c.1159C>G (p.Leu387Val)	TMPRSS9 (L155V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344628	NM_001395513.1(TMPRSS9):c.1181G>C (p.Ser394Thr)	TMPRSS9 (S162T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384596	NM_001395513.1(TMPRSS9):c.1189G>A (p.Gly397Ser)	TMPRSS9 (G363S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1321299	NM_001395513.1(TMPRSS9):c.1196C>A (p.Ser399Ter)	TMPRSS9 (S167* +2 more)	Single nucleotide variant (nonsense)	Global developmental delay	GLikely pathogenic
Select item 2256695	NM_001395513.1(TMPRSS9):c.1216T>C (p.Cys406Arg)	TMPRSS9 (C174R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346131	NM_001395513.1(TMPRSS9):c.1219G>T (p.Ala407Ser)	TMPRSS9 (A175S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 721044	NM_001395513.1(TMPRSS9):c.1345G>A (p.Ala449Thr)	TMPRSS9 (A415T +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2238732	NM_001395513.1(TMPRSS9):c.1349G>A (p.Arg450Gln)	TMPRSS9 (R416Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352005	NM_001395513.1(TMPRSS9):c.1355C>T (p.Pro452Leu)	TMPRSS9 (P220L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179967	NM_001395513.1(TMPRSS9):c.1370G>A (p.Arg457Gln)	TMPRSS9 (R423Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507577	NM_001395513.1(TMPRSS9):c.1384C>T (p.Arg462Cys)	TMPRSS9 (R230C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520196	NM_001395513.1(TMPRSS9):c.1422G>A (p.Met474Ile)	TMPRSS9 (M242I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179968	NM_001395513.1(TMPRSS9):c.1493C>A (p.Pro498His)	TMPRSS9 (P266H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602222	NM_001395513.1(TMPRSS9):c.1537G>A (p.Val513Met)	TMPRSS9 (V479M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272091	NM_001395513.1(TMPRSS9):c.1552G>A (p.Val518Ile)	TMPRSS9 (V518I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355023	NM_001395513.1(TMPRSS9):c.1610G>A (p.Arg537Gln)	TMPRSS9 (R305Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400541	NM_001395513.1(TMPRSS9):c.1627G>A (p.Gly543Arg)	TMPRSS9 (G311R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288137	NM_001395513.1(TMPRSS9):c.1676C>A (p.Ser559Tyr)	TMPRSS9 (S327Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479448	NM_001395513.1(TMPRSS9):c.1691G>T (p.Gly564Val)	TMPRSS9 (G332V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483904	NM_001395513.1(TMPRSS9):c.1693G>C (p.Ala565Pro)	TMPRSS9 (A333P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648973	NM_001395513.1(TMPRSS9):c.1758G>A (p.Glu586=)	TMPRSS9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3179969	NM_001395513.1(TMPRSS9):c.1787C>T (p.Ser596Phe)	TMPRSS9 (S596F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354068	NM_001395513.1(TMPRSS9):c.1828C>T (p.Arg610Trp)	TMPRSS9 (R576W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382919	NM_001395513.1(TMPRSS9):c.1829G>A (p.Arg610Gln)	TMPRSS9 (R610Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455664	NM_001395513.1(TMPRSS9):c.1916A>G (p.Asn639Ser)	TMPRSS9 (N407S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179971	NM_001395513.1(TMPRSS9):c.1924A>G (p.Ile642Val)	TMPRSS9 (I410V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2294173	NM_001395513.1(TMPRSS9):c.1990G>A (p.Gly664Arg)	TMPRSS9 (G630R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515755	NM_001395513.1(TMPRSS9):c.2003C>T (p.Thr668Met)	TMPRSS9 (T668M +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2648974	NM_001395513.1(TMPRSS9):c.2043G>A (p.Lys681=)	TMPRSS9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 777361	NM_001395513.1(TMPRSS9):c.2046G>A (p.Ala682=)	TMPRSS9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2344343	NM_001395513.1(TMPRSS9):c.2048C>T (p.Ser683Phe)	TMPRSS9 (S649F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288850	NM_001395513.1(TMPRSS9):c.2074T>C (p.Cys692Arg)	TMPRSS9 (C658R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339451	NM_001395513.1(TMPRSS9):c.2107C>G (p.Arg703Gly)	TMPRSS9 (R471G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179972	NM_001395513.1(TMPRSS9):c.2108G>A (p.Arg703His)	TMPRSS9 (R471H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410164	NM_001395513.1(TMPRSS9):c.2110A>G (p.Met704Val)	TMPRSS9 (M472V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322821	NM_001395513.1(TMPRSS9):c.2113A>G (p.Ile705Val)	TMPRSS9 (I705V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179973	NM_001395513.1(TMPRSS9):c.2115C>G (p.Ile705Met)	TMPRSS9 (I671M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179974	NM_001395513.1(TMPRSS9):c.2143G>T (p.Asp715Tyr)	TMPRSS9 (D681Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179975	NM_001395513.1(TMPRSS9):c.2184G>C (p.Glu728Asp)	TMPRSS9 (E728D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179976	NM_001395513.1(TMPRSS9):c.2195G>T (p.Gly732Val)	TMPRSS9 (G500V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226634	NM_001395513.1(TMPRSS9):c.2255C>T (p.Pro752Leu)	TMPRSS9 (P718L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327064	NM_001395513.1(TMPRSS9):c.2267C>T (p.Thr756Met)	TMPRSS9 (T756M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554393	NM_001395513.1(TMPRSS9):c.2323C>T (p.Pro775Ser)	TMPRSS9 (P543S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179977	NM_001395513.1(TMPRSS9):c.2332C>T (p.Pro778Ser)	TMPRSS9 (P778S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410799	NM_001395513.1(TMPRSS9):c.2336C>G (p.Pro779Arg)	TMPRSS9 (P547R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359776	NM_001395513.1(TMPRSS9):c.2339C>T (p.Ser780Leu)	TMPRSS9 (S780L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179978	NM_001395513.1(TMPRSS9):c.2363C>T (p.Thr788Ile)	TMPRSS9 (T754I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406705	NM_001395513.1(TMPRSS9):c.2375C>T (p.Thr792Met)	TMPRSS9 (T792M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478614	NM_001395513.1(TMPRSS9):c.2386C>T (p.Leu796Phe)	TMPRSS9 (L762F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461675	NM_001395513.1(TMPRSS9):c.2444C>T (p.Thr815Met)	TMPRSS9 (T583M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790377	NM_001395513.1(TMPRSS9):c.2494G>A (p.Gly832Arg)	TMPRSS9 (G798R +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2238628	NM_001395513.1(TMPRSS9):c.2515G>A (p.Ala839Thr)	TMPRSS9 (A805T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2307380	NM_001395513.1(TMPRSS9):c.2564C>T (p.Pro855Leu)	TMPRSS9 (P821L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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