TMPRSS11A[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	ENAM, LOC123477761 +360 more	Copy number loss	Piebaldism	GPathogenic
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 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
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 148549	GRCh38/hg38 4q13.2-13.3(chr4:67799665-74240920)x1	ADAMTS3, AFM +121 more	Copy number loss	See cases	GLikely pathogenic
Select item 1684642	NC_000004.12:g.67833055_82716065del	LINC01088, LINC01094 +330 more	Deletion	See cases	GPathogenic
Select item 2559731	NM_001114387.2(TMPRSS11A):c.1253T>C (p.Ile418Thr)	TMPRSS11A (I421T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327302	NM_001114387.2(TMPRSS11A):c.1250G>A (p.Gly417Asp)	TMPRSS11A (G420D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540621	NM_001114387.2(TMPRSS11A):c.1226G>A (p.Arg409Gln)	TMPRSS11A (R412Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368266	NM_001114387.2(TMPRSS11A):c.1139C>T (p.Thr380Met)	TMPRSS11A (T383M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224309	NM_001114387.2(TMPRSS11A):c.1115T>C (p.Leu372Ser)	TMPRSS11A (L375S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179832	NM_001114387.2(TMPRSS11A):c.1090T>C (p.Cys364Arg)	TMPRSS11A (C364R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179831	NM_001114387.2(TMPRSS11A):c.1049G>A (p.Gly350Glu)	TMPRSS11A (G350E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214652	NM_001114387.2(TMPRSS11A):c.1039A>G (p.Ile347Val)	TMPRSS11A (I347V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263651	NM_001114387.2(TMPRSS11A):c.992T>C (p.Ile331Thr)	TMPRSS11A (I331T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389326	NM_001114387.2(TMPRSS11A):c.938C>T (p.Ala313Val)	TMPRSS11A (A316V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179839	NM_001114387.2(TMPRSS11A):c.902A>C (p.Gln301Pro)	TMPRSS11A (Q301P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375970	NM_001114387.2(TMPRSS11A):c.893C>T (p.Ala298Val)	TMPRSS11A (A301V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327301	NM_001114387.2(TMPRSS11A):c.854C>T (p.Ser285Leu)	TMPRSS11A (S288L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363930	NM_001114387.2(TMPRSS11A):c.843A>C (p.Arg281Ser)	TMPRSS11A (R281S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179837	NM_001114387.2(TMPRSS11A):c.819T>G (p.Ile273Met)	TMPRSS11A (I273M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378521	NM_001114387.2(TMPRSS11A):c.794G>T (p.Arg265Leu)	TMPRSS11A (R268L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179836	NM_001114387.2(TMPRSS11A):c.784G>A (p.Glu262Lys)	TMPRSS11A (E265K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610974	NM_001114387.2(TMPRSS11A):c.757A>G (p.Arg253Gly)	TMPRSS11A (R256G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379892	NM_001114387.2(TMPRSS11A):c.740A>G (p.Asn247Ser)	TMPRSS11A (N250S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262380	NM_001114387.2(TMPRSS11A):c.730A>G (p.Thr244Ala)	TMPRSS11A (T247A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382897	NM_001114387.2(TMPRSS11A):c.505T>A (p.Leu169Ile)	TMPRSS11A (L172I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463222	NM_001114387.2(TMPRSS11A):c.451C>A (p.Pro151Thr)	TMPRSS11A (P154T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179835	NM_001114387.2(TMPRSS11A):c.446C>T (p.Ala149Val)	TMPRSS11A (A149V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556425	NM_001114387.2(TMPRSS11A):c.427A>C (p.Lys143Gln)	TMPRSS11A (K143Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525598	NM_001114387.2(TMPRSS11A):c.287A>G (p.Lys96Arg)	TMPRSS11A (K96R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179834	NM_001114387.2(TMPRSS11A):c.199G>A (p.Gly67Arg)	TMPRSS11A (G67R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327303	NM_001114387.2(TMPRSS11A):c.188A>G (p.Asn63Ser)	TMPRSS11A (N63S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333254	NM_001114387.2(TMPRSS11A):c.128T>G (p.Val43Gly)	TMPRSS11A (V43G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621027	NM_001114387.2(TMPRSS11A):c.13A>G (p.Thr5Ala)	TMPRSS11A (T5A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3179833	NM_001114387.2(TMPRSS11A):c.10C>T (p.Arg4Trp)	TMPRSS11A (R4W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359159	NM_001114387.2(TMPRSS11A):c.4A>G (p.Met2Val)	TMPRSS11A (M2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2685109	GRCh37/hg19 4q12-13.3(chr4:57584845-72430996)x1	ADGRL3, AMBN +52 more	Copy number loss	not provided	GPathogenic
Select item 1808557	GRCh37/hg19 4q13.2(chr4:68485743-69138293)x3	GNRHR, TMPRSS11A +4 more	Copy number gain	not provided	GUncertain significance
Select item 1807937	GRCh37/hg19 4q13.2(chr4:67729321-68949586)x3	CENPC, GNRHR +5 more	Copy number gain	not provided	GUncertain significance
Select item 1527092	GRCh37/hg19 4q13.2(chr4:68272006-68923410)	CENPC, GNRHR +5 more	Copy number gain	not specified	GUncertain significance
Select item 1527091	GRCh37/hg19 4q13.2(chr4:67997060-69198391)	CENPC, GNRHR +7 more	Copy number gain	not specified	GUncertain significance
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 980092	GRCh37/hg19 4q13.2(chr4:68800905-68968823)x1	TMPRSS11F, TMPRSS11A	Copy number loss	not provided	GUncertain significance
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 562922	GRCh37/hg19 4q13.1-13.2(chr4:65395609-69170853)x1	UBA6, TMPRSS11B +7 more	Copy number loss	not provided	GUncertain significance
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 395561	GRCh37/hg19 4q13.2(chr4:68267070-69203425)x3	CENPC, GNRHR +7 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

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Items: 59