TCHH[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 155694	GRCh38/hg38 1q21.3(chr1:151858531-152298574)x1	CCDST, HRNR +23 more	Copy number loss	See cases	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 717537	NM_007113.4(TCHH):c.5787T>C (p.Pro1929=)	TCHH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2409352	NM_007113.4(TCHH):c.5752C>T (p.His1918Tyr)	TCHH (H1918Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460553	NM_007113.4(TCHH):c.5685C>A (p.His1895Gln)	TCHH (H1895Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515489	NM_007113.4(TCHH):c.5682G>C (p.Arg1894Ser)	TCHH (R1894S)	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 3325003	NM_007113.4(TCHH):c.5636A>C (p.Lys1879Thr)	TCHH (K1879T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403250	NM_007113.4(TCHH):c.5605G>A (p.Glu1869Lys)	TCHH (E1869K)	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 2613384	NM_007113.4(TCHH):c.5536C>T (p.Arg1846Trp)	TCHH (R1846W)	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 3175260	NM_007113.4(TCHH):c.5455G>A (p.Gly1819Arg)	TCHH (G1819R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2388931	NM_007113.4(TCHH):c.5452G>C (p.Asp1818His)	TCHH (D1818H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3324994	NM_007113.4(TCHH):c.5398G>A (p.Glu1800Lys)	TCHH (E1800K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406037	NM_007113.4(TCHH):c.5348G>C (p.Arg1783Thr)	TCHH (R1783T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639185	NM_007113.4(TCHH):c.5340C>G (p.Arg1780=)	TCHH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2483809	NM_007113.4(TCHH):c.5269C>T (p.Pro1757Ser)	TCHH (P1757S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214890	NM_007113.4(TCHH):c.5225G>A (p.Arg1742His)	TCHH (R1742H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511161	NM_007113.4(TCHH):c.5183A>C (p.Glu1728Ala)	TCHH (E1728A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257124	NM_007113.4(TCHH):c.5108A>G (p.Gln1703Arg)	TCHH (Q1703R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353529	NM_007113.4(TCHH):c.5105G>C (p.Arg1702Pro)	TCHH (R1702P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719891	NM_007113.4(TCHH):c.5089G>C (p.Glu1697Gln)	TCHH (E1697Q)	Single nucleotide variant (missense variant)	not provided	GBenign
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 3324993	NM_007113.4(TCHH):c.5017G>A (p.Glu1673Lys)	TCHH (E1673K)	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 2599175	NM_007113.4(TCHH):c.4976A>G (p.Gln1659Arg)	TCHH (Q1659R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304576	NM_007113.4(TCHH):c.4972G>A (p.Glu1658Lys)	TCHH (E1658K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268736	NM_007113.4(TCHH):c.4936C>G (p.Leu1646Val)	TCHH (L1646V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530991	NM_007113.4(TCHH):c.4913G>A (p.Arg1638His)	TCHH (R1638H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603654	NM_007113.4(TCHH):c.4912C>T (p.Arg1638Cys)	TCHH (R1638C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234299	NM_007113.4(TCHH):c.4838T>G (p.Leu1613Arg)	TCHH (L1613R)	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 2241661	NM_007113.4(TCHH):c.4816C>A (p.Arg1606Ser)	TCHH (R1606S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719607	NM_007113.4(TCHH):c.4803A>G (p.Glu1601=)	TCHH	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2314781	NM_007113.4(TCHH):c.4752G>C (p.Glu1584Asp)	TCHH (E1584D)	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 2539074	NM_007113.4(TCHH):c.4698G>T (p.Glu1566Asp)	TCHH (E1566D)	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 2528824	NM_007113.4(TCHH):c.4658G>C (p.Arg1553Pro)	TCHH (R1553P)	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 2525428	NM_007113.4(TCHH):c.4634G>A (p.Arg1545His)	TCHH (R1545H)	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 2231839	NM_007113.4(TCHH):c.4624C>T (p.Arg1542Cys)	TCHH (R1542C)	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 2306663	NM_007113.4(TCHH):c.4542G>C (p.Glu1514Asp)	TCHH (E1514D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2221796	NM_007113.4(TCHH):c.4498G>T (p.Asp1500Tyr)	TCHH (D1500Y)	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 2340393	NM_007113.4(TCHH):c.4495C>T (p.Arg1499Cys)	TCHH (R1499C)	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 2476550	NM_007113.4(TCHH):c.4430A>G (p.Gln1477Arg)	TCHH (Q1477R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517815	NM_007113.4(TCHH):c.4391G>A (p.Arg1464His)	TCHH (R1464H)	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 2310800	NM_007113.4(TCHH):c.4367G>A (p.Arg1456His)	TCHH (R1456H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718796	NM_007113.4(TCHH):c.4331G>C (p.Arg1444Pro)	TCHH (R1444P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2367933	NM_007113.4(TCHH):c.4319G>A (p.Arg1440His)	TCHH (R1440H)	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 2311031	NM_007113.4(TCHH):c.4265A>C (p.Gln1422Pro)	TCHH (Q1422P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234022	NM_007113.4(TCHH):c.4249C>G (p.Arg1417Gly)	TCHH (R1417G)	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 2269279	NM_007113.4(TCHH):c.4225C>T (p.Arg1409Cys)	TCHH (R1409C)	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 2273768	NM_007113.4(TCHH):c.4145G>A (p.Arg1382Gln)	TCHH (R1382Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2490993	NM_007113.4(TCHH):c.4143G>C (p.Gln1381His)	TCHH (Q1381H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393714	NM_007113.4(TCHH):c.4141C>G (p.Gln1381Glu)	TCHH (Q1381E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2553461	NM_007113.4(TCHH):c.4139A>G (p.Glu1380Gly)	TCHH (E1380G)	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 2258420	NM_007113.4(TCHH):c.4129C>G (p.Leu1377Val)	TCHH (L1377V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543059	NM_007113.4(TCHH):c.4111G>A (p.Glu1371Lys)	TCHH (E1371K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220768	NM_007113.4(TCHH):c.4096G>C (p.Glu1366Gln)	TCHH (E1366Q)	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 2639186	NM_007113.4(TCHH):c.4061G>C (p.Arg1354Pro)	TCHH (R1354P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2314780	NM_007113.4(TCHH):c.4060C>G (p.Arg1354Gly)	TCHH (R1354G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274353	NM_007113.4(TCHH):c.3991C>T (p.Arg1331Cys)	TCHH (R1331C)	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 709136	NM_007113.4(TCHH):c.3870C>T (p.Asp1290=)	TCHH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2411815	NM_007113.4(TCHH):c.3868G>C (p.Asp1290His)	TCHH (D1290H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299945	NM_007113.4(TCHH):c.3856T>C (p.Trp1286Arg)	TCHH (W1286R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 742842	NM_007113.4(TCHH):c.3819A>G (p.Glu1273=)	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 3175234	NM_007113.4(TCHH):c.3765T>G (p.Asp1255Glu)	TCHH (D1255E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468628	NM_007113.4(TCHH):c.3758T>C (p.Leu1253Ser)	TCHH (L1253S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595201	NM_007113.4(TCHH):c.3749T>A (p.Phe1250Tyr)	TCHH (F1250Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367104	NM_007113.4(TCHH):c.3707G>C (p.Arg1236Pro)	TCHH (R1236P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540448	NM_007113.4(TCHH):c.3685C>T (p.Pro1229Ser)	TCHH (P1229S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243762	NM_007113.4(TCHH):c.3667C>G (p.Leu1223Val)	TCHH (L1223V)	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

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