TANC1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60219	GRCh38/hg38 2q23.1-24.3(chr2:148917286-163204623)x1	ACVR1, ACVR1C +333 more	Copy number loss	See cases	GPathogenic
Select item 154597	GRCh38/hg38 2q23.3-24.2(chr2:151932344-159419734)x1	ACVR1, ACVR1C +147 more	Copy number loss	See cases	GPathogenic
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 59150	GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3	ACVR1, ACVR1C +275 more	Copy number gain	See cases	GPathogenic
Select item 57318	GRCh38/hg38 2q24.1-24.3(chr2:158382388-166605758)x1	BAZ2B, BAZ2B-AS1 +197 more	Copy number loss	See cases	GPathogenic
Select item 152747	GRCh38/hg38 2q24.1-24.2(chr2:158655460-159251819)x3	DAPL1, LOC110121120 +24 more	Copy number gain	See cases	GLikely benign
Select item 149626	GRCh38/hg38 2q24.1-24.2(chr2:158743458-159232182)x3	LOC110121242, LOC120977011 +18 more	Copy number gain	See cases	GLikely benign
Select item 151097	GRCh38/hg38 2q24.2(chr2:159064347-159108014)x3	LOC129934984, TANC1	Copy number gain	See cases	GUncertain significance
Select item 3324341	NM_033394.3(TANC1):c.20A>G (p.Lys7Arg)	TANC1 (K7R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330197	NM_033394.3(TANC1):c.46G>A (p.Gly16Ser)	TANC1 (G16S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2265360	NM_033394.3(TANC1):c.154T>C (p.Tyr52His)	TANC1 (Y52H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775763	NM_033394.3(TANC1):c.208C>A (p.Leu70Met)	TANC1 (L70M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2467319	NM_033394.3(TANC1):c.386C>T (p.Pro129Leu)	TANC1 (P129L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173719	NM_033394.3(TANC1):c.395C>T (p.Ser132Leu)	TANC1 (S97L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173723	NM_033394.3(TANC1):c.455G>C (p.Ser152Thr)	TANC1 (S117T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2651450	NM_033394.3(TANC1):c.474T>C (p.Ile158=)	TANC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2274760	NM_033394.3(TANC1):c.563C>A (p.Thr188Asn)	TANC1 (T153N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324339	NM_033394.3(TANC1):c.589A>C (p.Ser197Arg)	TANC1 (S162R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2651451	NM_033394.3(TANC1):c.606G>A (p.Thr202=)	TANC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2272695	NM_033394.3(TANC1):c.680T>C (p.Ile227Thr)	TANC1 (I192T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324346	NM_033394.3(TANC1):c.697T>G (p.Ser233Ala)	TANC1 (S232A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324338	NM_033394.3(TANC1):c.715C>G (p.Arg239Gly)	TANC1 (R239G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 775764	NM_033394.3(TANC1):c.790C>T (p.Arg264Cys)	TANC1 (R263C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2336553	NM_033394.3(TANC1):c.850A>G (p.Thr284Ala)	TANC1 (T283A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324345	NM_033394.3(TANC1):c.854T>C (p.Leu285Pro)	TANC1 (L285P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173732	NM_033394.3(TANC1):c.953G>A (p.Ser318Asn)	TANC1 (S124N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173733	NM_033394.3(TANC1):c.970G>T (p.Asp324Tyr)	TANC1 (D201Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651452	NM_033394.3(TANC1):c.987C>T (p.Asp329=)	TANC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2560320	NM_033394.3(TANC1):c.1010G>A (p.Arg337Gln)	TANC1 (R214Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221346	NM_033394.3(TANC1):c.1013C>T (p.Thr338Met)	TANC1 (T215M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 808835	NM_033394.3(TANC1):c.1018A>G (p.Ile340Val)	TANC1 (I217V +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2566938	NM_033394.3(TANC1):c.1061A>T (p.Glu354Val)	TANC1 (E231V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538441	NM_033394.3(TANC1):c.1079C>T (p.Ala360Val)	TANC1 (A159V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173701	NM_033394.3(TANC1):c.1184T>A (p.Ile395Lys)	TANC1 (I395K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391341	NM_033394.3(TANC1):c.1307G>T (p.Arg436Leu)	TANC1 (R428L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597727	NM_033394.3(TANC1):c.1310T>A (p.Met437Lys)	TANC1 (M236K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353409	NM_033394.3(TANC1):c.1334C>T (p.Pro445Leu)	TANC1 (P438L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341523	NM_033394.3(TANC1):c.1339T>G (p.Ser447Ala)	TANC1 (S440A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226418	NM_033394.3(TANC1):c.1358A>T (p.Asp453Val)	TANC1 (D445V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237250	NM_033394.3(TANC1):c.1381A>G (p.Thr461Ala)	TANC1 (T260A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300126	NM_033394.3(TANC1):c.1435C>T (p.Pro479Ser)	TANC1 (P479S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173704	NM_033394.3(TANC1):c.1436C>T (p.Pro479Leu)	TANC1 (P278L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173703	NM_033394.3(TANC1):c.1436C>G (p.Pro479Arg)	TANC1 (P356R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206085	NM_033394.3(TANC1):c.1453G>A (p.Ala485Thr)	TANC1 (A478T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400916	NM_033394.3(TANC1):c.1912A>C (p.Ser638Arg)	TANC1 (S437R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173705	NM_033394.3(TANC1):c.1949T>C (p.Phe650Ser)	TANC1 (F642S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479753	NM_033394.3(TANC1):c.1965C>A (p.Asp655Glu)	TANC1 (D454E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173706	NM_033394.3(TANC1):c.2036C>T (p.Ser679Phe)	TANC1 (S672F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173707	NM_033394.3(TANC1):c.2044G>A (p.Gly682Ser)	TANC1 (G675S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324336	NM_033394.3(TANC1):c.2059A>T (p.Thr687Ser)	TANC1 (T564S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307459	NM_033394.3(TANC1):c.2096G>A (p.Arg699Gln)	TANC1 (R691Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486888	NM_033394.3(TANC1):c.2111A>G (p.Tyr704Cys)	TANC1 (Y503C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406206	NM_033394.3(TANC1):c.2215C>G (p.Leu739Val)	TANC1 (L732V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173708	NM_033394.3(TANC1):c.2258G>A (p.Arg753Lys)	TANC1 (R630K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602728	NM_033394.3(TANC1):c.2278G>A (p.Val760Met)	TANC1 (V637M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324337	NM_033394.3(TANC1):c.2306C>G (p.Thr769Arg)	TANC1 (T761R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549854	NM_033394.3(TANC1):c.2319C>G (p.Ile773Met)	TANC1 (I650M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510323	NM_033394.3(TANC1):c.2444C>T (p.Pro815Leu)	TANC1 (P614L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324344	NM_033394.3(TANC1):c.2545C>T (p.Arg849Cys)	TANC1 (R841C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173710	NM_033394.3(TANC1):c.2644T>G (p.Ser882Ala)	TANC1 (S681A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341232	NM_033394.3(TANC1):c.2674G>A (p.Gly892Ser)	TANC1 (G691S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211596	NM_033394.3(TANC1):c.2698G>A (p.Ala900Thr)	TANC1 (A892T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549642	NM_033394.3(TANC1):c.2713C>G (p.Leu905Val)	TANC1 (L782V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173712	NM_033394.3(TANC1):c.2737G>C (p.Val913Leu)	TANC1 (V790L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173711	NM_033394.3(TANC1):c.2737G>A (p.Val913Met)	TANC1 (V905M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309223	NM_033394.3(TANC1):c.2750G>A (p.Arg917His)	TANC1 (R794H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 816816	NM_033394.3(TANC1):c.2830C>T (p.His944Tyr)	TANC1 (H821Y +4 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2589491	NM_033394.3(TANC1):c.2855C>G (p.Thr952Ser)	TANC1 (T944S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225402	NM_033394.3(TANC1):c.2902G>A (p.Gly968Ser)	TANC1 (G767S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324340	NM_033394.3(TANC1):c.2906T>G (p.Met969Arg)	TANC1 (M969R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512270	NM_033394.3(TANC1):c.2987A>G (p.His996Arg)	TANC1 (H989R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324342	NM_033394.3(TANC1):c.3021C>G (p.His1007Gln)	TANC1 (H1007Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208358	NM_033394.3(TANC1):c.3031C>T (p.Arg1011Trp)	TANC1 (R1003W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595753	NM_033394.3(TANC1):c.3032G>A (p.Arg1011Gln)	TANC1 (R1011Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067311	NM_033394.3(TANC1):c.3171C>T (p.Val1057=)	TANC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2537402	NM_033394.3(TANC1):c.3190G>A (p.Glu1064Lys)	TANC1 (E1057K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394911	NM_033394.3(TANC1):c.3199C>A (p.His1067Asn)	TANC1 (H866N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400187	NM_033394.3(TANC1):c.3259G>A (p.Ala1087Thr)	TANC1 (A1080T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305331	NM_033394.3(TANC1):c.3353G>A (p.Cys1118Tyr)	TANC1 (C1110Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651453	NM_033394.3(TANC1):c.3402C>T (p.Arg1134=)	TANC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2208616	NM_033394.3(TANC1):c.3481G>C (p.Val1161Leu)	TANC1 (V1161L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392088	NM_033394.3(TANC1):c.3487T>C (p.Phe1163Leu)	TANC1 (F1040L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173714	NM_033394.3(TANC1):c.3604G>A (p.Ala1202Thr)	TANC1 (A1001T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173715	NM_033394.3(TANC1):c.3634C>T (p.Arg1212Cys)	TANC1 (R1204C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411996	NM_033394.3(TANC1):c.3667G>A (p.Asp1223Asn)	TANC1 (D1216N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173716	NM_033394.3(TANC1):c.3673G>A (p.Glu1225Lys)	TANC1 (E1024K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610363	NM_033394.3(TANC1):c.3679G>A (p.Val1227Met)	TANC1 (V1220M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173717	NM_033394.3(TANC1):c.3706G>A (p.Val1236Met)	TANC1 (V1113M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173718	NM_033394.3(TANC1):c.3716A>G (p.His1239Arg)	TANC1 (H1239R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651454	NM_033394.3(TANC1):c.3756C>A (p.Ile1252=)	TANC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2295870	NM_033394.3(TANC1):c.3817G>A (p.Ala1273Thr)	TANC1 (A1266T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 808836	NM_033394.3(TANC1):c.3879G>T (p.Met1293Ile)	TANC1 (M1092I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2463914	NM_033394.3(TANC1):c.3901A>G (p.Lys1301Glu)	TANC1 (K1301E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298268	NM_033394.3(TANC1):c.4115C>G (p.Ala1372Gly)	TANC1 (A1364G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173721	NM_033394.3(TANC1):c.4158C>G (p.Phe1386Leu)	TANC1 (F1263L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390910	NM_033394.3(TANC1):c.4159G>A (p.Val1387Met)	TANC1 (V1264M +3 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2529530	NM_033394.3(TANC1):c.4192A>C (p.Lys1398Gln)	TANC1 (K1391Q +3 more)	Single nucleotide variant (stop lost +1 more)	not specified	GUncertain significance
Select item 2344247	NM_033394.3(TANC1):c.4318G>A (p.Glu1440Lys)	TANC1 (E1433K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559941	NM_033394.3(TANC1):c.4401G>T (p.Gln1467His)	TANC1 (Q1266H +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3173722	NM_033394.3(TANC1):c.4466G>A (p.Arg1489Gln)	TANC1 (R1366Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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