ClinVar for Gene (Select 28983) - ClinVar

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Links from Gene

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3327315	NM_014058.4(TMPRSS11E):c.701T>C (p.Phe234Ser)	TMPRSS11E (F234S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327314	NM_014058.4(TMPRSS11E):c.1118C>G (p.Ser373Cys)	TMPRSS11E (S373C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179866	NM_014058.4(TMPRSS11E):c.928G>A (p.Val310Met)	TMPRSS11E (V310M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179864	NM_014058.4(TMPRSS11E):c.58G>A (p.Val20Ile)	TMPRSS11E (V20I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179863	NM_014058.4(TMPRSS11E):c.513C>A (p.Asp171Glu)	TMPRSS11E (D171E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179862	NM_014058.4(TMPRSS11E):c.486T>G (p.Ile162Met)	TMPRSS11E (I162M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179861	NM_014058.4(TMPRSS11E):c.213G>T (p.Glu71Asp)	TMPRSS11E (E71D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179860	NM_014058.4(TMPRSS11E):c.1159T>C (p.Tyr387His)	TMPRSS11E (Y387H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3054888	NM_014058.4(TMPRSS11E):c.529+12A>G	TMPRSS11E	Single nucleotide variant (intron variant)	TMPRSS11E-related disorder	GLikely benign
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685970	GRCh37/hg19 4q13.1-13.3(chr4:63684557-71480358)x3	AMBN, AMTN +38 more	Copy number gain	not provided	GPathogenic
Select item 2685114	GRCh37/hg19 4q13.2-13.3(chr4:69146217-75500577)x1	ADAMTS3, AFM +58 more	Copy number loss	not provided	GPathogenic
Select item 2685109	GRCh37/hg19 4q12-13.3(chr4:57584845-72430996)x1	ADGRL3, AMBN +52 more	Copy number loss	not provided	GPathogenic
Select item 2567673	NM_014058.4(TMPRSS11E):c.919C>G (p.Pro307Ala)	TMPRSS11E (P307A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517482	NM_014058.4(TMPRSS11E):c.907T>C (p.Tyr303His)	TMPRSS11E (Y303H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2512649	NM_014058.4(TMPRSS11E):c.685A>G (p.Ser229Gly)	TMPRSS11E (S229G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472344	NM_014058.4(TMPRSS11E):c.989G>A (p.Arg330Gln)	TMPRSS11E (R330Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467389	NM_014058.4(TMPRSS11E):c.841G>A (p.Ala281Thr)	TMPRSS11E (A281T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460663	NM_014058.4(TMPRSS11E):c.820C>G (p.His274Asp)	TMPRSS11E (H274D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405211	NM_014058.4(TMPRSS11E):c.421G>A (p.Val141Ile)	TMPRSS11E (V141I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356695	NM_014058.4(TMPRSS11E):c.382A>G (p.Thr128Ala)	TMPRSS11E (T128A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324620	NM_014058.4(TMPRSS11E):c.1188T>G (p.Asp396Glu)	TMPRSS11E (D396E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313947	NM_014058.4(TMPRSS11E):c.545G>C (p.Arg182Thr)	TMPRSS11E (R182T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268657	NM_014058.4(TMPRSS11E):c.350C>T (p.Ala117Val)	TMPRSS11E (A117V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256196	NM_014058.4(TMPRSS11E):c.982C>G (p.His328Asp)	TMPRSS11E (H328D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255470	NM_014058.4(TMPRSS11E):c.824A>G (p.Asp275Gly)	TMPRSS11E (D275G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226229	NM_014058.4(TMPRSS11E):c.70G>A (p.Val24Ile)	TMPRSS11E (V24I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2225895	NM_014058.4(TMPRSS11E):c.10C>T (p.Arg4Trp)	TMPRSS11E (R4W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206691	NM_014058.4(TMPRSS11E):c.1045A>G (p.Asn349Asp)	TMPRSS11E (N349D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1684642	NC_000004.12:g.67833055_82716065del	BTC, CABS1 +330 more	Deletion	See cases	GPathogenic
Select item 1527090	GRCh37/hg19 4q13.1-13.3(chr4:61867555-74711517)	ADAMTS3, ADGRL3 +58 more	Copy number loss	not specified	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 1249332	NM_014058.4(TMPRSS11E):c.908A>G (p.Tyr303Cys)	TMPRSS11E (Y303C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	ENAM, LOC123477761 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 814563	GRCh37/hg19 4q13.2-21.21(chr4:68950363-79738598)x1	ADAMTS3, AFM +92 more	Copy number loss	not provided	GPathogenic
Select item 814562	GRCh37/hg19 4q13.2(chr4:67392949-69837294)x3	CENPC, GNRHR +12 more	Copy number gain	not provided	GUncertain significance
Select item 813844	GRCh37/hg19 4q13.2(chr4:66969699-69462438)x3	CENPC, GNRHR +10 more	Copy number gain	Delayed speech and language development +1 more	GUncertain significance
Select item 685236	GRCh37/hg19 4q13.2-21.22(chr4:68242784-82991431)x3	CCNG2, CCNI +109 more	Copy number gain	not provided	GPathogenic
Select item 562920	GRCh37/hg19 4q13.1-13.3(chr4:64705501-73469716)x3	ADAMTS3, AMBN +49 more	Copy number gain	not provided	GPathogenic
Select item 443262	GRCh37/hg19 4q13.1-21.1(chr4:66017575-76772947)x1	ADAMTS3, AFM +75 more	Copy number loss	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441639	GRCh37/hg19 4q13.2(chr4:69256219-69908707)x3	TMPRSS11E, UGT2A3 +3 more	Copy number gain	See cases	GUncertain significance
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 154298	GRCh38/hg38 4q13.2-13.3(chr4:67744481-70267689)x1	CSN1S1, CSN2 +43 more	Copy number loss	See cases	GUncertain significance
Select item 150066	GRCh38/hg38 4q13.2(chr4:68471568-68617567)x3	TMPRSS11E, UGT2B17	Copy number gain	See cases	GLikely benign
Select item 148549	GRCh38/hg38 4q13.2-13.3(chr4:67799665-74240920)x1	ADAMTS3, AFM +121 more	Copy number loss	See cases	GLikely pathogenic
Select item 145379	GRCh38/hg38 4q13.2(chr4:68410654-68727128)x3	TMPRSS11E, UGT2B15 +1 more	Copy number gain	See cases	GBenign
Select item 59451	GRCh38/hg38 4q13.1-13.3(chr4:65454562-72313693)x1	LOC129992665, LOC129992666 +103 more	Copy number loss	See cases	GPathogenic
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 57351	GRCh38/hg38 4q13.2(chr4:65873016-68743024)x3	CENPC, GNRHR +32 more	Copy number gain	See cases	GUncertain significance
Select item 57091	GRCh38/hg38 4q13.2-13.3(chr4:66842408-70831557)x1	AMBN, AMTN +76 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 52