5318[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59123	GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1	CT70, CTNNAL1 +509 more	Copy number loss	See cases	GPathogenic
Select item 152171	GRCh38/hg38 9q31.2-33.1(chr9:107530314-117965944)x1	PALM2AKAP2, PAPPA +377 more	Copy number loss	See cases	GPathogenic
Select item 150626	GRCh38/hg38 9q33.1(chr9:115007759-115251861)x1	DELEC1, LOC101928748 +7 more	Copy number loss	See cases	GUncertain significance
Select item 2252564	NM_002160.4(TNC):c.6601G>T (p.Ala2201Ser)	TNC (A2201S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039169	NM_002160.4(TNC):c.6593G>A (p.Arg2198His)	TNC (R2016H +1 more)	Single nucleotide variant (missense variant)	TNC-related disorder	GLikely benign
Select item 2216598	NM_002160.4(TNC):c.6592C>T (p.Arg2198Cys)	TNC (R2016C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2437126	NM_002160.4(TNC):c.6527A>G (p.Glu2176Gly)	TNC (E1994G +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 56	GUncertain significance
Select item 805677	NM_002160.4(TNC):c.6499G>A (p.Val2167Ile)	TNC (V2167I)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 56 +1 more	GBenign/Likely benign
Select item 1243437	NM_002160.4(TNC):c.6496-6del	TNC	Deletion (intron variant)	not provided	GBenign
Select item 1316716	NM_002160.4(TNC):c.6496-38CT[10]	TNC	Microsatellite (intron variant)	not provided	GLikely benign
Select item 930251	NM_002160.4(TNC):c.6496-18del	TNC	Deletion (intron variant)	Autosomal dominant nonsyndromic hearing loss 56	GUncertain significance
Select item 637026	NM_002160.4(TNC):c.6494A>G (p.Gln2165Arg)	TNC (Q2165R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 720440	NM_002160.4(TNC):c.6482A>G (p.Asn2161Ser)	TNC (N2161S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1288564	NM_002160.4(TNC):c.6332-93C>T	TNC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3327438	NM_002160.4(TNC):c.6287A>C (p.Lys2096Thr)	TNC (K1914T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1316983	NM_002160.4(TNC):c.6273C>T (p.Ser2091=)	TNC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3180147	NM_002160.4(TNC):c.6235C>A (p.His2079Asn)	TNC (H2079N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1315734	NM_002160.4(TNC):c.6230G>A (p.Arg2077Gln)	TNC (R2077Q)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 3327441	NM_002160.4(TNC):c.6229C>T (p.Arg2077Trp)	TNC (R2077W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297967	NM_002160.4(TNC):c.6217C>T (p.Arg2073Trp)	TNC (R1891W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1065095	NM_002160.4(TNC):c.6211G>A (p.Glu2071Lys)	TNC (E2071K)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 2659450	NM_002160.4(TNC):c.6187A>G (p.Lys2063Glu)	TNC (K1881E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3180146	NM_002160.4(TNC):c.6179A>T (p.Asn2060Ile)	TNC (N2060I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180145	NM_002160.4(TNC):c.6177C>A (p.Asp2059Glu)	TNC (D2059E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1296879	NM_002160.4(TNC):c.6170-28C>T	TNC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316783	NM_002160.4(TNC):c.6169+255G>A	TNC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1320576	NM_002160.4(TNC):c.6169+233A>T	TNC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317855	NM_002160.4(TNC):c.6169+127C>G	TNC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1221829	NM_002160.4(TNC):c.6169+22A>G	TNC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1064904	NM_002160.4(TNC):c.6148C>T (p.Arg2050Cys)	TNC (R2050C)	Single nucleotide variant (missense variant)	Hearing impairment	GLikely benign
Select item 586836	NM_002160.4(TNC):c.6144G>A (p.Gly2048=)	TNC	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 56 +1 more	GBenign
Select item 776444	NM_002160.4(TNC):c.6099C>T (p.Arg2033=)	TNC	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2611789	NM_002160.4(TNC):c.6079C>A (p.Leu2027Met)	TNC (L1845M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659451	NM_002160.4(TNC):c.6078C>T (p.Phe2026=)	TNC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3059146	NM_002160.4(TNC):c.6073-4A>G	TNC	Single nucleotide variant (intron variant)	TNC-related disorder	GLikely benign
Select item 1262996	NM_002160.4(TNC):c.6072+272del	TNC	Deletion (intron variant)	not provided	GBenign
Select item 1263677	NM_002160.4(TNC):c.6072+259C>G	TNC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266236	NM_002160.4(TNC):c.6072+107C>A	TNC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316870	NM_002160.4(TNC):c.6072+90G>A	TNC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3336530	NM_002160.4(TNC):c.6051C>T (p.Thr2017=)	TNC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1259794	NM_002160.4(TNC):c.6022G>C (p.Glu2008Gln)	TNC (E2008Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 784149	NM_002160.4(TNC):c.6006G>A (p.Leu2002=)	TNC	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 56 +1 more	GBenign/Likely benign
Select item 981878	NM_002160.4(TNC):c.5987G>C (p.Gly1996Ala)	TNC (G1996A)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GUncertain significance
Select item 2673188	NM_002160.4(TNC):c.5978C>T (p.Thr1993Met)	TNC (T1811M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1180026	NM_002160.4(TNC):c.5921-192T>A	TNC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281524	NM_002160.4(TNC):c.5920+175G>A	TNC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3180144	NM_002160.4(TNC):c.5915C>T (p.Thr1972Ile)	TNC (T1972I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362299	NM_002160.4(TNC):c.5906C>T (p.Thr1969Ile)	TNC (T1787I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367308	NM_002160.4(TNC):c.5846C>T (p.Thr1949Ile)	TNC (T1767I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2683060	NM_002160.4(TNC):c.5845A>G (p.Thr1949Ala)	TNC (T1767A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315921	NM_002160.4(TNC):c.5810C>T (p.Thr1937Ile)	TNC (T1937I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1283615	NM_002160.4(TNC):c.5788-190C>T	TNC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267735	NM_002160.4(TNC):c.5787+114dup	TNC	Duplication (intron variant)	not provided	GBenign
Select item 1270129	NM_002160.4(TNC):c.5787+89C>T	TNC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2682303	NM_002160.4(TNC):c.5758G>T (p.Val1920Phe)	TNC (V1738F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789777	NM_002160.4(TNC):c.5745C>A (p.Thr1915=)	TNC	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 56 +1 more	GBenign
Select item 987789	NM_002160.4(TNC):c.5743A>G (p.Thr1915Ala)	TNC (T1915A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2571337	NM_002160.4(TNC):c.5732G>A (p.Arg1911Gln)	TNC (R1729Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3043582	NM_002160.4(TNC):c.5731C>T (p.Arg1911Trp)	TNC (R1729W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2627216	NM_002160.4(TNC):c.5730C>T (p.Pro1910=)	TNC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2220854	NM_002160.4(TNC):c.5726C>A (p.Pro1909His)	TNC (P1909H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279651	NM_002160.4(TNC):c.5723G>A (p.Arg1908Gln)	TNC (R1726Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068984	NM_002160.4(TNC):c.5722C>T (p.Arg1908Ter)	TNC (R1726* +1 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 1317268	NM_002160.4(TNC):c.5700G>A (p.Ser1900=)	TNC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2437128	NM_002160.4(TNC):c.5692G>A (p.Val1898Ile)	TNC (V1716I +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 56	GUncertain significance
Select item 1182259	NM_002160.4(TNC):c.5673A>G (p.Arg1891=)	TNC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3180143	NM_002160.4(TNC):c.5672G>A (p.Arg1891Lys)	TNC (R1891K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 748717	NM_002160.4(TNC):c.5657-9C>T	TNC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2488122	NM_002160.4(TNC):c.5645A>C (p.Lys1882Thr)	LOC126860740, TNC (K1700T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659452	NM_002160.4(TNC):c.5615G>C (p.Gly1872Ala)	LOC126860740, TNC (G1690A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1318359	NM_002160.4(TNC):c.5613A>G (p.Lys1871=)	LOC126860740, TNC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1065109	NM_002160.4(TNC):c.5611A>G (p.Lys1871Glu)	LOC126860740, TNC (K1871E)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 1317669	NM_002160.4(TNC):c.5531C>T (p.Thr1844Met)	LOC126860740, TNC (T1844M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2214197	NM_002160.4(TNC):c.5528G>A (p.Arg1843His)	LOC126860740, TNC (R1843H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1316827	NM_002160.4(TNC):c.5513-105C>T	LOC126860740, TNC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317842	NM_002160.4(TNC):c.5513-291A>T	LOC126860740, TNC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267151	NM_002160.4(TNC):c.5513-312C>G	LOC126860740, TNC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227716	NM_002160.4(TNC):c.5513-317G>A	LOC126860740, TNC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274867	NM_002160.4(TNC):c.5512+123A>T	TNC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317130	NM_002160.4(TNC):c.5512+68G>A	TNC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2659453	NM_002160.4(TNC):c.5506G>A (p.Glu1836Lys)	TNC (E1654K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3180141	NM_002160.4(TNC):c.5479G>T (p.Asp1827Tyr)	TNC (D1645Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3353110	NM_002160.4(TNC):c.5394T>A (p.Ala1798=)	TNC	Single nucleotide variant (synonymous variant)	TNC-related disorder	GLikely benign
Select item 1224906	NM_002160.4(TNC):c.5393-35A>G	TNC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268788	NM_002160.4(TNC):c.5392+235C>A	TNC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316251	NM_002160.4(TNC):c.5392+17GT[12]	TNC	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1263418	NM_002160.4(TNC):c.5392+17GT[10]	TNC	Microsatellite (intron variant)	not provided	GBenign
Select item 1240676	NM_002160.4(TNC):c.5392+17GT[11]	TNC	Microsatellite (intron variant)	not provided	GBenign
Select item 1318115	NM_002160.4(TNC):c.5392+17GT[8]	TNC	Microsatellite (intron variant)	not provided	GLikely benign
Select item 97009	NM_002160.4(TNC):c.5386A>T (p.Thr1796Ser)	TNC (T1796S)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 56	GPathogenic
Select item 2593215	NM_002160.4(TNC):c.5351G>A (p.Gly1784Asp)	TNC (G1602D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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