ClinVar for Gene (Select 7062) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3325003	NM_007113.4(TCHH):c.5636A>C (p.Lys1879Thr)	TCHH (K1879T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325002	NM_007113.4(TCHH):c.5486A>G (p.Gln1829Arg)	TCHH (Q1829R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325001	NM_007113.4(TCHH):c.289G>A (p.Glu97Lys)	TCHH (E97K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325000	NM_007113.4(TCHH):c.1464G>T (p.Trp488Cys)	TCHH (W488C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324998	NM_007113.4(TCHH):c.308G>A (p.Cys103Tyr)	TCHH (C103Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324997	NM_007113.4(TCHH):c.4825G>A (p.Gly1609Ser)	TCHH (G1609S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324996	NM_007113.4(TCHH):c.5652C>G (p.His1884Gln)	TCHH (H1884Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3324995	NM_007113.4(TCHH):c.3382C>G (p.Arg1128Gly)	TCHH (R1128G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324994	NM_007113.4(TCHH):c.5398G>A (p.Glu1800Lys)	TCHH (E1800K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324993	NM_007113.4(TCHH):c.5017G>A (p.Glu1673Lys)	TCHH (E1673K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324992	NM_007113.4(TCHH):c.2000G>A (p.Arg667Lys)	TCHH (R667K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324991	NM_007113.4(TCHH):c.3434A>G (p.Glu1145Gly)	TCHH (E1145G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324990	NM_007113.4(TCHH):c.949C>G (p.Gln317Glu)	TCHH (Q317E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324989	NM_007113.4(TCHH):c.1808A>G (p.Lys603Arg)	TCHH (K603R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3324988	NM_007113.4(TCHH):c.1975C>G (p.Leu659Val)	TCHH (L659V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324987	NM_007113.4(TCHH):c.2081G>C (p.Arg694Pro)	TCHH (R694P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3239021	NM_007113.4(TCHH):c.1806G>T (p.Leu602=)	TCHH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3239020	NM_007113.4(TCHH):c.2025G>A (p.Glu675=)	TCHH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3175266	NM_007113.4(TCHH):c.978G>C (p.Glu326Asp)	TCHH (E326D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175265	NM_007113.4(TCHH):c.827A>C (p.Glu276Ala)	TCHH (E276A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175264	NM_007113.4(TCHH):c.5825G>T (p.Arg1942Leu)	TCHH (R1942L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175263	NM_007113.4(TCHH):c.5782A>C (p.Ser1928Arg)	TCHH (S1928R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175262	NM_007113.4(TCHH):c.5764A>G (p.Ser1922Gly)	TCHH (S1922G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175261	NM_007113.4(TCHH):c.5572C>G (p.Arg1858Gly)	TCHH (R1858G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175260	NM_007113.4(TCHH):c.5455G>A (p.Gly1819Arg)	TCHH (G1819R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3175259	NM_007113.4(TCHH):c.5422G>A (p.Glu1808Lys)	TCHH (E1808K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175257	NM_007113.4(TCHH):c.5333A>G (p.Gln1778Arg)	TCHH (Q1778R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175256	NM_007113.4(TCHH):c.5066G>A (p.Arg1689His)	TCHH (R1689H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175255	NM_007113.4(TCHH):c.4978C>G (p.Gln1660Glu)	TCHH (Q1660E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175254	NM_007113.4(TCHH):c.4768C>T (p.Arg1590Cys)	TCHH (R1590C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175253	NM_007113.4(TCHH):c.4721G>A (p.Arg1574His)	TCHH (R1574H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175252	NM_007113.4(TCHH):c.4678G>A (p.Glu1560Lys)	TCHH (E1560K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175251	NM_007113.4(TCHH):c.4646G>C (p.Arg1549Pro)	TCHH (R1549P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175250	NM_007113.4(TCHH):c.4625G>T (p.Arg1542Leu)	TCHH (R1542L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175249	NM_007113.4(TCHH):c.4586G>T (p.Arg1529Leu)	TCHH (R1529L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175248	NM_007113.4(TCHH):c.4496G>C (p.Arg1499Pro)	TCHH (R1499P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175247	NM_007113.4(TCHH):c.4492G>A (p.Glu1498Lys)	TCHH (E1498K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175246	NM_007113.4(TCHH):c.4388T>C (p.Phe1463Ser)	TCHH (F1463S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175245	NM_007113.4(TCHH):c.4330C>G (p.Arg1444Gly)	TCHH (R1444G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175244	NM_007113.4(TCHH):c.4327G>A (p.Glu1443Lys)	TCHH (E1443K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175243	NM_007113.4(TCHH):c.4283G>A (p.Arg1428His)	TCHH (R1428H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175242	NM_007113.4(TCHH):c.4273C>G (p.Arg1425Gly)	TCHH (R1425G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175241	NM_007113.4(TCHH):c.4237G>C (p.Asp1413His)	TCHH (D1413H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175240	NM_007113.4(TCHH):c.4153C>T (p.Arg1385Cys)	TCHH (R1385C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175239	NM_007113.4(TCHH):c.4150C>A (p.Arg1384Ser)	TCHH (R1384S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175238	NM_007113.4(TCHH):c.4133A>T (p.Glu1378Val)	TCHH (E1378V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175237	NM_007113.4(TCHH):c.4088G>T (p.Arg1363Leu)	TCHH (R1363L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175236	NM_007113.4(TCHH):c.3986G>C (p.Arg1329Thr)	TCHH (R1329T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175235	NM_007113.4(TCHH):c.3872G>A (p.Arg1291Lys)	TCHH (R1291K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175234	NM_007113.4(TCHH):c.3765T>G (p.Asp1255Glu)	TCHH (D1255E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175232	NM_007113.4(TCHH):c.3622C>A (p.Gln1208Lys)	TCHH (Q1208K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175231	NM_007113.4(TCHH):c.3610G>A (p.Glu1204Lys)	TCHH (E1204K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175230	NM_007113.4(TCHH):c.3575G>C (p.Arg1192Pro)	TCHH (R1192P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175229	NM_007113.4(TCHH):c.3385G>C (p.Glu1129Gln)	TCHH (E1129Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175228	NM_007113.4(TCHH):c.3376G>A (p.Glu1126Lys)	TCHH (E1126K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175227	NM_007113.4(TCHH):c.3344A>G (p.Glu1115Gly)	TCHH (E1115G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175226	NM_007113.4(TCHH):c.3143G>A (p.Arg1048Lys)	TCHH (R1048K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175225	NM_007113.4(TCHH):c.3122G>A (p.Arg1041Lys)	TCHH (R1041K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175224	NM_007113.4(TCHH):c.305G>C (p.Arg102Pro)	TCHH (R102P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175223	NM_007113.4(TCHH):c.3059A>G (p.Tyr1020Cys)	TCHH (Y1020C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175222	NM_007113.4(TCHH):c.2512G>C (p.Glu838Gln)	TCHH (E838Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175221	NM_007113.4(TCHH):c.2480G>A (p.Arg827Lys)	TCHH (R827K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175220	NM_007113.4(TCHH):c.2342G>A (p.Arg781His)	TCHH (R781H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175219	NM_007113.4(TCHH):c.2257C>T (p.Arg753Trp)	TCHH (R753W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175218	NM_007113.4(TCHH):c.2251G>A (p.Glu751Lys)	TCHH (E751K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175216	NM_007113.4(TCHH):c.216C>A (p.Asn72Lys)	TCHH (N72K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175215	NM_007113.4(TCHH):c.2138A>G (p.Asp713Gly)	TCHH (D713G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175214	NM_007113.4(TCHH):c.2030A>G (p.Glu677Gly)	TCHH (E677G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175213	NM_007113.4(TCHH):c.2028T>G (p.His676Gln)	TCHH (H676Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175211	NM_007113.4(TCHH):c.1912G>A (p.Glu638Lys)	TCHH (E638K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175210	NM_007113.4(TCHH):c.1876G>C (p.Glu626Gln)	TCHH (E626Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175209	NM_007113.4(TCHH):c.1849G>C (p.Glu617Gln)	TCHH (E617Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175208	NM_007113.4(TCHH):c.1837G>C (p.Glu613Gln)	TCHH (E613Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175207	NM_007113.4(TCHH):c.1835A>G (p.Gln612Arg)	TCHH (Q612R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175206	NM_007113.4(TCHH):c.1814A>T (p.Glu605Val)	TCHH (E605V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175205	NM_007113.4(TCHH):c.1774C>G (p.Arg592Gly)	TCHH (R592G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175204	NM_007113.4(TCHH):c.1766G>A (p.Arg589Gln)	TCHH (R589Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175203	NM_007113.4(TCHH):c.1717G>A (p.Glu573Lys)	TCHH (E573K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175202	NM_007113.4(TCHH):c.1708G>A (p.Glu570Lys)	TCHH (E570K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175201	NM_007113.4(TCHH):c.1633A>G (p.Arg545Gly)	TCHH (R545G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175199	NM_007113.4(TCHH):c.1444G>A (p.Glu482Lys)	TCHH (E482K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175198	NM_007113.4(TCHH):c.1316A>G (p.Glu439Gly)	TCHH (E439G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175197	NM_007113.4(TCHH):c.1087C>G (p.Gln363Glu)	TCHH (Q363E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175196	NM_007113.4(TCHH):c.1072G>A (p.Glu358Lys)	TCHH (E358K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2639194	NM_007113.4(TCHH):c.720G>A (p.Glu240=)	TCHH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639193	NM_007113.4(TCHH):c.1608A>G (p.Gln536=)	TCHH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639192	NM_007113.4(TCHH):c.1619G>C (p.Arg540Pro)	TCHH (R540P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2639191	NM_007113.4(TCHH):c.1877A>G (p.Glu626Gly)	TCHH (E626G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2639190	NM_007113.4(TCHH):c.2298C>T (p.Asp766=)	TCHH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639189	NM_007113.4(TCHH):c.2806C>T (p.Leu936=)	TCHH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639188	NM_007113.4(TCHH):c.3300G>A (p.Lys1100=)	TCHH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639187	NM_007113.4(TCHH):c.3786A>G (p.Gln1262=)	TCHH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639186	NM_007113.4(TCHH):c.4061G>C (p.Arg1354Pro)	TCHH (R1354P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2639185	NM_007113.4(TCHH):c.5340C>G (p.Arg1780=)	TCHH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620308	NM_007113.4(TCHH):c.2252A>C (p.Glu751Ala)	TCHH (E751A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613780	NM_007113.4(TCHH):c.729G>C (p.Glu243Asp)	TCHH (E243D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613384	NM_007113.4(TCHH):c.5536C>T (p.Arg1846Trp)	TCHH (R1846W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610875	NM_007113.4(TCHH):c.1753A>G (p.Arg585Gly)	TCHH (R585G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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