TMPRSS2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	NCAM2, NDUFV3 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	PDE9A-AS1, PDXK +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	LOC130066843, LOC130066844 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653343, LOC126653344 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	LINC00315, LINC00316 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	ATP5PF, ATP5PO +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653350, LOC126653351 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LINC00111, LINC00112 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	TSPEAR-AS1, TSPEAR-AS2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC130066578, LOC130066579 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	LOC126653316, LOC126653317 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	LOC130066758, LOC130066759 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	LOC130066717, LOC130066718 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC125418051, LOC125418052 +1159 more	Copy number gain	See cases	GPathogenic
Select item 144194	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3	ABCG1, ADAMTS1 +884 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	HSF2BP, HSPA13 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LOC130066756, LOC130066757 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	KRTAP12-3, KRTAP12-4 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC107403153, LOC107548109 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SON, SPATC1L +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066735, LOC130066736 +1156 more	Copy number loss	See cases	GPathogenic
Select item 147667	GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1	LINC01424, LINC01436 +643 more	Copy number loss	See cases	GPathogenic
Select item 149106	GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3	AATBC, ABCG1 +598 more	Copy number gain	See cases	GPathogenic
Select item 145644	GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3	LOC130066759, LOC130066760 +586 more	Copy number gain	See cases	GPathogenic
Select item 146921	GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3	AATBC, ABCG1 +568 more	Copy number gain	See cases	GPathogenic
Select item 57360	GRCh38/hg38 21q22.13-22.3(chr21:37135738-42434515)x1	ABCG1, B3GALT5 +224 more	Copy number loss	See cases	GPathogenic
Select item 149036	GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1	AATBC, ABCG1 +516 more	Copy number loss	See cases	GPathogenic
Select item 154214	GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1	AATBC, ABCG1 +482 more	Copy number loss	See cases	GPathogenic
Select item 545244	NC_000021.9:g.(?_38981673)_(41568791_?)del	FAM3B, GET1 +85 more	Deletion	Autism	GLikely pathogenic
Select item 154583	GRCh38/hg38 21q22.2-22.3(chr21:39375937-44246148)x1	AATBC, ABCG1 +268 more	Copy number loss	See cases	GPathogenic
Select item 150275	GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1	AATBC, ABCG1 +429 more	Copy number loss	See cases	GPathogenic
Select item 57337	GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1	BNAT1, C21orf58 +416 more	Copy number loss	See cases	GPathogenic
Select item 155316	GRCh38/hg38 21q22.3(chr21:41368412-42556043)x3	ABCG1, C2CD2 +114 more	Copy number gain	See cases	GLikely benign
Select item 425275	NM_005656.4(TMPRSS2):c.1467G>A (p.Arg489=)	TMPRSS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2537564	NM_005656.4(TMPRSS2):c.1429G>A (p.Val477Met)	TMPRSS2 (V477M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547785	NM_005656.4(TMPRSS2):c.1244T>A (p.Val415Asp)	TMPRSS2 (V452D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161524	NM_005656.4(TMPRSS2):c.1222_1223del (p.Gln408fs)	TMPRSS2 (Q408fs +1 more)	Microsatellite (frameshift variant)	Malignant tumor of prostate	GUncertain significance
Select item 3034163	NM_005656.4(TMPRSS2):c.1123C>T (p.Pro375Ser)	TMPRSS2 (P375S +1 more)	Single nucleotide variant (missense variant)	TMPRSS2-related disorder	GLikely benign
Select item 2681615	NM_005656.4(TMPRSS2):c.973G>A (p.Gly325Arg)	TMPRSS2 (G325R +1 more)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 3179907	NM_005656.4(TMPRSS2):c.900A>G (p.Lys300=)	TMPRSS2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2334790	NM_005656.4(TMPRSS2):c.847G>T (p.Gly283Cys)	TMPRSS2 (G283C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747838	NM_005656.4(TMPRSS2):c.792G>A (p.Pro264=)	TMPRSS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2365506	NM_005656.4(TMPRSS2):c.778G>A (p.Glu260Lys)	TMPRSS2 (E297K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310937	NM_005656.4(TMPRSS2):c.745A>G (p.Asn249Asp)	TMPRSS2 (N249D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255608	NM_005656.4(TMPRSS2):c.731G>T (p.Cys244Phe)	TMPRSS2 (C244F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791665	NM_005656.4(TMPRSS2):c.648C>T (p.Ala216=)	TMPRSS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2681614	NM_005656.4(TMPRSS2):c.541G>A (p.Gly181Arg)	TMPRSS2 (G181R +1 more)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 771222	NM_005656.4(TMPRSS2):c.540C>T (p.Tyr180=)	TMPRSS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1257425	NM_005656.4(TMPRSS2):c.478G>A (p.Val160Met)	TMPRSS2 (V160M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 773614	NM_005656.4(TMPRSS2):c.224C>T (p.Thr75Ile)	LOC111099027, TMPRSS2 (T75I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3024788	NM_005656.4(TMPRSS2):c.189C>T (p.Pro63=)	LOC111099027, TMPRSS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3179910	NM_005656.4(TMPRSS2):c.173C>T (p.Thr58Met)	LOC111099027, TMPRSS2 (T58M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 746279	NM_005656.4(TMPRSS2):c.133T>G (p.Tyr45Asp)	TMPRSS2, LOC111099027 (Y82D +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 775443	NM_005656.4(TMPRSS2):c.99C>T (p.Val33=)	LOC111099027, TMPRSS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3179909	NM_005656.4(TMPRSS2):c.94G>A (p.Val32Met)	LOC111099027, TMPRSS2 (V32M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323408	NM_005656.4(TMPRSS2):c.91A>G (p.Thr31Ala)	LOC111099027, TMPRSS2 (T31A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037176	NM_005656.4(TMPRSS2):c.82G>A (p.Ala28Thr)	LOC111099027, TMPRSS2 (A28T +1 more)	Single nucleotide variant (missense variant)	TMPRSS2-related disorder	GLikely benign
Select item 2379029	NM_005656.4(TMPRSS2):c.65C>T (p.Pro22Leu)	LOC111099027, TMPRSS2 (P59L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727567	NM_005656.4(TMPRSS2):c.53A>G (p.His18Arg)	LOC111099027, TMPRSS2 (H18R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2298803	NM_005656.4(TMPRSS2):c.-10T>A	LOC111099027, TMPRSS2 (D34E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2652681	NM_005656.4(TMPRSS2):c.-57+1539C>T	LOC111099027, TMPRSS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1273671	NM_005656.4(TMPRSS2):c.-57+99G>T	LOC117134604, TMPRSS2 (G8V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3025033	NM_005656.4(TMPRSS2):c.-57+98G>C	LOC117134604, TMPRSS2 (G8R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062429	GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3	CBR1, CBR3 +139 more	Copy number gain	not specified	GPathogenic
Select item 3062428	GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1	KCNJ15, KCNJ6 +118 more	Copy number loss	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	COL6A1, COL6A2 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	CBS, ITGB2 +186 more	Copy number gain	not specified	GPathogenic
Select item 2685664	GRCh37/hg19 21q22.2-22.3(chr21:40681179-48097372)x1	ABCG1, ADARB1 +92 more	Copy number loss	not provided	GPathogenic
Select item 2684916	GRCh37/hg19 21q22.2-22.3(chr21:40965330-43116823)x3	B3GALT5, BACE2 +8 more	Copy number gain	not provided	GUncertain significance
Select item 2684914	GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3	ABCG1, ADARB1 +148 more	Copy number gain	not provided	GPathogenic
Select item 2684910	GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3	ABCG1, ADAMTS1 +170 more	Copy number gain	not provided	GPathogenic
Select item 1807697	GRCh37/hg19 21q22.2-22.3(chr21:42046399-45109188)x1	ABCG1, BACE2 +28 more	Copy number loss	not provided	GPathogenic
Select item 1705932	GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3	DOP1B, DSCAM +217 more	Copy number gain	Complete trisomy 21 syndrome	GPathogenic
Select item 1703616	GRCh37/hg19 21q22.3(chr21:42679089-48097372)	ABCG1, ADARB1 +81 more	Copy number loss	Delayed speech and language development	GPathogenic
Select item 1526720	GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372)	ABCG1, ADARB1 +83 more	Copy number loss	not specified	GPathogenic
Select item 1526706	GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)	FAM3B, FTCD +216 more	Copy number gain	not specified	GPathogenic
Select item 1526705	GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372)	KRTAP13-1, KRTAP13-2 +216 more	Copy number gain	not specified	GPathogenic
Select item 1341200	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	not provided	GPathogenic
Select item 1321998	GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3	ABCG1, ADAMTS1 +220 more	Copy number gain	See cases	GPathogenic
Select item 983157	GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 816508	GRCh37/hg19 21q22.2-22.3(chr21:42044877-48100155)x3	ABCG1, ADARB1 +84 more	Copy number gain	See cases	GPathogenic
Select item 816166	GRCh37/hg19 21q22.13-22.3(chr21:39410438-45171756)x1	CRYAA, GET1 +44 more	Copy number loss	not provided	GPathogenic
Select item 688164	GRCh37/hg19 21q22.3(chr21:42714287-42943077)x1	FAM3B, MX1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 686229	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	not provided	GPathogenic
Select item 635899	Single allele	ABCG1, BACE2 +10 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 625618	GRCh37/hg19 21q22.2-22.3(chr21:41537095-46914745)	ABCG1, ADARB1 +70 more	Copy number loss	not provided	GPathogenic
Select item 564676	GRCh37/hg19 21q22.2-22.3(chr21:42335622-48097372)x1	ABCG1, ADARB1 +83 more	Copy number loss	not provided	GPathogenic
Select item 564652	GRCh37/hg19 21q22.3(chr21:42805420-43176065)x3	RIPK4, MX1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 443979	GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372)	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 443779	GRCh37/hg19 21q22.3(chr21:42661850-43590844)x3	C2CD2, FAM3B +7 more	Copy number gain	See cases	GUncertain significance
Select item 443778	GRCh37/hg19 21q22.13-22.3(chr21:37914123-48097372)x1	ABCG1, ADARB1 +108 more	Copy number loss	See cases	GPathogenic
Select item 443072	GRCh37/hg19 21q22.2-22.3(chr21:41254101-48097372)x1	ABCG1, ADARB1 +85 more	Copy number loss	See cases	GPathogenic

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