ClinVar for Gene (Select 51061) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 104

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3330370	NM_015914.7(TXNDC11):c.188C>A (p.Pro63Gln)	TXNDC11 (P63Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3330369	NM_015914.7(TXNDC11):c.305C>T (p.Ser102Phe)	TXNDC11 (S102F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3330368	NM_015914.7(TXNDC11):c.2469G>C (p.Gln823His)	TXNDC11 (Q609H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330367	NM_015914.7(TXNDC11):c.1567G>A (p.Glu523Lys)	TXNDC11 (E309K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330366	NM_015914.7(TXNDC11):c.745C>G (p.Pro249Ala)	TXNDC11 (P249A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3330365	NM_015914.7(TXNDC11):c.2026G>A (p.Val676Ile)	TXNDC11 (V676I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330364	NM_015914.7(TXNDC11):c.1294T>A (p.Trp432Arg)	TXNDC11 (W218R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330363	NM_015914.7(TXNDC11):c.2837C>T (p.Thr946Ile)	TXNDC11 (T732I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330362	NM_015914.7(TXNDC11):c.28G>C (p.Gly10Arg)	TXNDC11 (G10R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3330361	NM_015914.7(TXNDC11):c.1924G>A (p.Val642Ile)	TXNDC11 (V190I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330360	NM_015914.7(TXNDC11):c.1591A>C (p.Thr531Pro)	TXNDC11 (T79P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330359	NM_015914.7(TXNDC11):c.1393T>G (p.Phe465Val)	TXNDC11 (F13V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185153	NM_015914.7(TXNDC11):c.93C>G (p.Asp31Glu)	TXNDC11 (Q27H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3185152	NM_015914.7(TXNDC11):c.863A>G (p.His288Arg)	TXNDC11 (H315R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3185151	NM_015914.7(TXNDC11):c.850G>T (p.Val284Leu)	TXNDC11 (V311L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3185150	NM_015914.7(TXNDC11):c.530A>G (p.His177Arg)	TXNDC11 (H177R)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3185149	NM_015914.7(TXNDC11):c.289C>T (p.Pro97Ser)	TXNDC11 (P97S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3185148	NM_015914.7(TXNDC11):c.2854A>G (p.Asn952Asp)	TXNDC11 (N979D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185147	NM_015914.7(TXNDC11):c.2756A>G (p.Glu919Gly)	TXNDC11 (E919G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185146	NM_015914.7(TXNDC11):c.2698A>T (p.Thr900Ser)	TXNDC11 (T927S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185145	NM_015914.7(TXNDC11):c.2449C>T (p.Leu817Phe)	TXNDC11 (L603F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185144	NM_015914.7(TXNDC11):c.2285A>G (p.Asn762Ser)	TXNDC11 (N310S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185143	NM_015914.7(TXNDC11):c.209T>C (p.Val70Ala)	TXNDC11 (V70A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3185142	NM_015914.7(TXNDC11):c.1895C>T (p.Thr632Ile)	TXNDC11 (T180I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185140	NM_015914.7(TXNDC11):c.1839C>A (p.Asp613Glu)	TXNDC11 (D161E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185139	NM_015914.7(TXNDC11):c.1832T>C (p.Ile611Thr)	TXNDC11 (I159T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185138	NM_015914.7(TXNDC11):c.1555T>G (p.Phe519Val)	TXNDC11 (F546V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185137	NM_015914.7(TXNDC11):c.1180C>T (p.Arg394Trp)	TXNDC11 (R421W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185136	NM_015914.7(TXNDC11):c.1145G>C (p.Gly382Ala)	TXNDC11 (G168A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185135	NM_015914.7(TXNDC11):c.1049C>T (p.Ala350Val)	TXNDC11 (A136V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2685557	GRCh37/hg19 16p13.13-13.12(chr16:11444572-12722447)x1	BCAR4, GSPT1 +8 more	Copy number loss	not provided	GUncertain significance
Select item 2684787	GRCh37/hg19 16p13.13(chr16:11822960-12056945)x3	BCAR4, GSPT1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2684785	GRCh37/hg19 16p13.13(chr16:11466110-12065032)x3	BCAR4, GSPT1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2608156	NM_015914.7(TXNDC11):c.229C>T (p.Leu77Phe)	TXNDC11 (L77F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2594152	NM_015914.7(TXNDC11):c.19C>T (p.Arg7Cys)	TXNDC11 (R52Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2592495	NM_015914.7(TXNDC11):c.1979C>T (p.Pro660Leu)	TXNDC11 (P687L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591645	NM_015914.7(TXNDC11):c.1084G>A (p.Glu362Lys)	TXNDC11 (E362K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2565425	NM_015914.7(TXNDC11):c.64G>A (p.Gly22Arg)	TXNDC11 (G22R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2550392	NM_015914.7(TXNDC11):c.2444G>A (p.Ser815Asn)	TXNDC11 (S363N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546537	NM_015914.7(TXNDC11):c.583G>A (p.Glu195Lys)	TXNDC11 (E195K)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2546227	NM_015914.7(TXNDC11):c.1765T>A (p.Leu589Met)	TXNDC11 (L375M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539150	NM_015914.7(TXNDC11):c.2224C>T (p.Pro742Ser)	TXNDC11 (P528S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537346	NM_015914.7(TXNDC11):c.1474T>A (p.Cys492Ser)	TXNDC11 (C40S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494303	NM_015914.7(TXNDC11):c.2744C>A (p.Ala915Glu)	TXNDC11 (A915E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484363	NM_015914.7(TXNDC11):c.550A>C (p.Ile184Leu)	TXNDC11 (I184L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2484362	NM_015914.7(TXNDC11):c.512A>C (p.Lys171Thr)	TXNDC11 (K171T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2484011	NM_015914.7(TXNDC11):c.2345A>G (p.Asn782Ser)	TXNDC11 (N568S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459745	NM_015914.7(TXNDC11):c.236C>T (p.Ala79Val)	TXNDC11 (A79V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2458501	NM_015914.7(TXNDC11):c.1114G>A (p.Glu372Lys)	TXNDC11 (E399K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455309	NM_015914.7(TXNDC11):c.758C>T (p.Thr253Ile)	TXNDC11 (T39I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2409661	NM_015914.7(TXNDC11):c.1186G>A (p.Val396Met)	TXNDC11 (V396M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390761	NM_015914.7(TXNDC11):c.1160A>T (p.Glu387Val)	TXNDC11 (E173V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389904	NM_015914.7(TXNDC11):c.1163G>A (p.Arg388His)	TXNDC11 (R388H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385376	NM_015914.7(TXNDC11):c.2635G>A (p.Glu879Lys)	TXNDC11 (E665K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381313	NM_015914.7(TXNDC11):c.1271G>A (p.Cys424Tyr)	TXNDC11 (C210Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375190	NM_015914.7(TXNDC11):c.629G>A (p.Arg210His)	TXNDC11 (R210H)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2373633	NM_015914.7(TXNDC11):c.1162C>T (p.Arg388Cys)	TXNDC11 (R174C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358478	NM_015914.7(TXNDC11):c.191A>C (p.Glu64Ala)	TXNDC11 (E64A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2356782	NM_015914.7(TXNDC11):c.2560G>A (p.Ala854Thr)	TXNDC11 (A854T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2354155	NM_015914.7(TXNDC11):c.1870C>G (p.Pro624Ala)	TXNDC11 (P172A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347064	NM_015914.7(TXNDC11):c.1645G>A (p.Val549Ile)	TXNDC11 (V549I +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2346622	NM_015914.7(TXNDC11):c.994C>T (p.Arg332Trp)	TXNDC11 (R118W +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2329840	NM_015914.7(TXNDC11):c.2645A>G (p.Asp882Gly)	TXNDC11 (D668G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324978	NM_015914.7(TXNDC11):c.1813G>A (p.Val605Met)	TXNDC11 (V632M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318790	NM_015914.7(TXNDC11):c.1372G>A (p.Val458Ile)	TXNDC11 (V6I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312317	NM_015914.7(TXNDC11):c.1639A>G (p.Ser547Gly)	TXNDC11 (S547G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311631	NM_015914.7(TXNDC11):c.1927C>T (p.Leu643Phe)	TXNDC11 (L429F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307425	NM_015914.7(TXNDC11):c.2839C>A (p.Leu947Met)	TXNDC11 (L733M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305851	NM_015914.7(TXNDC11):c.2762A>T (p.His921Leu)	TXNDC11 (H707L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291017	NM_015914.7(TXNDC11):c.2377G>A (p.Ala793Thr)	TXNDC11 (A341T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280560	NM_015914.7(TXNDC11):c.1246C>T (p.Pro416Ser)	TXNDC11 (P416S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257730	NM_015914.7(TXNDC11):c.485C>T (p.Ala162Val)	TXNDC11 (A162V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2236605	NM_015914.7(TXNDC11):c.589A>G (p.Lys197Glu)	TXNDC11 (K197E)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2220662	NM_015914.7(TXNDC11):c.176C>T (p.Ala59Val)	TXNDC11 (A59V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2210137	NM_015914.7(TXNDC11):c.2574G>C (p.Gln858His)	TXNDC11 (Q858H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209990	NM_015914.7(TXNDC11):c.166T>C (p.Phe56Leu)	TXNDC11 (F56L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2207734	NM_015914.7(TXNDC11):c.328C>G (p.Leu110Val)	TXNDC11 (L110V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2204518	NM_015914.7(TXNDC11):c.458G>A (p.Arg153Gln)	TXNDC11 (R153Q)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 1809030	GRCh37/hg19 16p13.2-13.13(chr16:10423631-12176517)x3	CIITA, ATF7IP2 +21 more	Copy number gain	not provided	GUncertain significance
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1526502	GRCh37/hg19 16p13.13-13.12(chr16:11364838-13592668)	SNN, SNX29 +13 more	Copy number gain	not specified	GUncertain significance
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 786286	NM_015914.7(TXNDC11):c.2076C>T (p.Cys692=)	TXNDC11	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 781184	NM_015914.7(TXNDC11):c.2064C>T (p.Tyr688=)	TXNDC11	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 775036	NM_015914.7(TXNDC11):c.2125C>G (p.Leu709Val)	TXNDC11 (L257V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 768752	NM_015914.7(TXNDC11):c.2667C>G (p.Thr889=)	TXNDC11	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 755904	NM_015914.7(TXNDC11):c.1749C>T (p.Tyr583=)	TXNDC11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 564270	GRCh37/hg19 16p13.13(chr16:10529891-11889585)x3	LITAF, ZC3H7A +16 more	Copy number gain	not provided	GUncertain significance
Select item 545184	Single allele	BCAR4, CPPED1 +85 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	AARS1, ABCC1 +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 441858	GRCh37/hg19 16p13.2-13.13(chr16:9631472-12128275)x3	ATF7IP2, BCAR4 +22 more	Copy number gain	See cases	GUncertain significance
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	DPEP2, DPEP3 +811 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221511	GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3	AMDHD2, ANKS3 +202 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

<< First< Prev

Page of 2