7613[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58716	GRCh38/hg38 18p11.32-11.21(chr18:10001-15380684)x3	LINC01892, LINC01895 +379 more	Copy number gain	See cases	GPathogenic
Select item 152926	GRCh38/hg38 18p11.32-11.21(chr18:14316-14206225)x3	ADCYAP1, AFG3L2 +373 more	Copy number gain	See cases	GPathogenic
Select item 153128	GRCh38/hg38 18p11.32-11.21(chr18:48782-14978076)x1	ADCYAP1, AFG3L2 +378 more	Copy number loss	See cases	GPathogenic
Select item 59612	GRCh38/hg38 18p11.32-11.31(chr18:53344-7029134)x1	ADCYAP1, AKAIN1 +161 more	Copy number loss	See cases	GPathogenic
Select item 58720	GRCh38/hg38 18p11.32-q11.1(chr18:53345-20948503)x3	LINC00668, LINC01254 +379 more	Copy number gain	See cases	GPathogenic
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	LOC105372173, LOC105372179 +1646 more	Copy number gain	See cases	GPathogenic
Select item 152927	GRCh38/hg38 18p11.32-11.31(chr18:85432-7094700)x1	LOC130062116, LOC130062117 +162 more	Copy number loss	See cases	GPathogenic
Select item 59614	GRCh38/hg38 18p11.32-11.21(chr18:112259-14122522)x1	ADCYAP1, AFG3L2 +368 more	Copy number loss	See cases	GPathogenic
Select item 59613	GRCh38/hg38 18p11.32-11.22(chr18:112259-9135777)x1	LOC126862690, LOC126862691 +195 more	Copy number loss	See cases	GPathogenic
Select item 155127	GRCh38/hg38 18p11.32-11.21(chr18:118760-12642431)x3	ADCYAP1, AFG3L2 +300 more	Copy number gain	See cases	GUncertain significance
Select item 152548	GRCh38/hg38 18p11.32-11.21(chr18:118760-15024003)x1	ADCYAP1, AFG3L2 +374 more	Copy number loss	See cases	GPathogenic
Select item 151983	GRCh38/hg38 18p11.32-11.31(chr18:118760-4470508)x1	ADCYAP1, CETN1 +120 more	Copy number loss	See cases	GPathogenic
Select item 150597	GRCh38/hg38 18p11.32-11.31(chr18:118760-6275718)x1	ADCYAP1, AKAIN1 +145 more	Copy number loss	See cases	GPathogenic
Select item 150126	GRCh38/hg38 18p11.32-11.22(chr18:118760-8999132)x1	MYOM1, NDC80 +184 more	Copy number loss	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC105372069, LOC105372071 +1643 more	Copy number gain	See cases	GPathogenic
Select item 148659	GRCh38/hg38 18p11.32-11.31(chr18:118760-4342182)x1	ADCYAP1, CETN1 +118 more	Copy number loss	See cases	GLikely pathogenic
Select item 148383	GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x1	LINC00470, LINC00526 +367 more	Copy number loss	See cases	GPathogenic
Select item 148382	GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x4	ADCYAP1, AFG3L2 +367 more	Copy number gain	See cases	GPathogenic
Select item 146636	GRCh38/hg38 18p11.32-11.31(chr18:131500-4421014)x3	ADCYAP1, CETN1 +119 more	Copy number gain	See cases	GPathogenic
Select item 59910	GRCh38/hg38 18p11.32-11.22(chr18:131700-10536767)x1	ADCYAP1, AKAIN1 +237 more	Copy number loss	See cases	GPathogenic
Select item 59617	GRCh38/hg38 18p11.32-11.21(chr18:131700-14226905)x1	LOC125368546, LOC125368547 +368 more	Copy number loss	See cases	GPathogenic
Select item 59616	GRCh38/hg38 18p11.32-11.31(chr18:131700-3279166)x1	ADCYAP1, CETN1 +83 more	Copy number loss	See cases	GPathogenic
Select item 59615	GRCh38/hg38 18p11.32-11.21(chr18:131700-15121055)x1	ADCYAP1, AFG3L2 +374 more	Copy number loss	See cases	GPathogenic
Select item 149042	GRCh38/hg38 18p11.32-11.21(chr18:133157-14089410)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 155594	GRCh38/hg38 18p11.32-11.31(chr18:136226-4802275)x1	ADCYAP1, CETN1 +120 more	Copy number loss	See cases	GPathogenic
Select item 155410	GRCh38/hg38 18p11.32-11.21(chr18:136226-14337134)x3	LOC130062172, LOC130062173 +368 more	Copy number gain	See cases	GPathogenic
Select item 155367	GRCh38/hg38 18p11.32-11.21(chr18:136226-15198991)x4	RAB31, RALBP1 +374 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC121852961, LOC121852962 +1643 more	Copy number gain	See cases	GPathogenic
Select item 153999	GRCh38/hg38 18p11.32-11.31(chr18:136226-4002983)x1	ADCYAP1, CETN1 +114 more	Copy number loss	See cases	GPathogenic
Select item 151749	GRCh38/hg38 18p11.32-11.21(chr18:136226-15175006)	ADCYAP1, AFG3L2 +374 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062369, LOC130062370 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160884	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC130062321, LOC130062322 +1643 more	Copy number gain	See cases	GPathogenic
Select item 148011	GRCh38/hg38 18p11.32-11.21(chr18:148963-10900517)x1	LOC130062167, LOC130062168 +245 more	Copy number loss	See cases	GPathogenic
Select item 146582	GRCh38/hg38 18p11.32-11.31(chr18:148963-6086668)x1	ADCYAP1, AKAIN1 +143 more	Copy number loss	See cases	GPathogenic
Select item 146198	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x4	ADCYAP1, AFG3L2 +367 more	Copy number gain	See cases	GPathogenic
Select item 59916	GRCh38/hg38 18p11.32-11.21(chr18:148963-13068104)x1	ADCYAP1, AFG3L2 +327 more	Copy number loss	See cases	GPathogenic
Select item 59913	GRCh38/hg38 18p11.32-11.21(chr18:148963-13530126)x1	LOC130062212, LOC130062213 +344 more	Copy number loss	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	LOC130062687, LOC130062688 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58728	GRCh38/hg38 18p11.32-q11.1(chr18:148963-21040153)x3	ADCYAP1, AFG3L2 +375 more	Copy number gain	See cases	GPathogenic
Select item 57340	GRCh38/hg38 18p11.32-11.21(chr18:148963-13715860)x1	ADCYAP1, AFG3L2 +358 more	Copy number loss	See cases	GPathogenic
Select item 34384	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	ABHD3, ACAA2 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154991	GRCh38/hg38 18p11.32-11.31(chr18:149089-5458472)x3	METTL4, MIR6718 +131 more	Copy number gain	See cases	GPathogenic
Select item 150684	GRCh38/hg38 18p11.32-11.31(chr18:149089-5276567)x1	ADCYAP1, AKAIN1 +127 more	Copy number loss	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	CDH7, CELF4 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062768, LOC130062769 +1642 more	Copy number gain	See cases	GPathogenic
Select item 2579191	GRCh38/hg38 18p11.32-11.21(chr18:158286-14124574)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 147704	GRCh38/hg38 18p11.32-11.22(chr18:180229-10762632)x1	TGIF1, THOC1 +241 more	Copy number loss	See cases	GPathogenic
Select item 58747	GRCh38/hg38 18p11.32-11.31(chr18:180230-4199943)x3	ADCYAP1, CETN1 +113 more	Copy number gain	See cases	GPathogenic
Select item 154072	GRCh38/hg38 18p11.32-11.21(chr18:958974-11954935)x1	LOC112543419, LOC112543420 +246 more	Copy number loss	See cases	GPathogenic
Select item 58749	GRCh38/hg38 18p11.32-11.21(chr18:1919684-15325188)x3	LOC130062147, LOC130062148 +339 more	Copy number gain	See cases	GPathogenic
Select item 147396	GRCh38/hg38 18p11.32-11.21(chr18:2425507-11904118)x3	AKAIN1, ANKRD12 +230 more	Copy number gain	See cases	GPathogenic
Select item 59917	GRCh38/hg38 18p11.32-11.31(chr18:2547398-6694867)x1	AKAIN1, DLGAP1 +109 more	Copy number loss	See cases	GPathogenic
Select item 145664	GRCh38/hg38 18p11.32-11.31(chr18:2793029-3153983)x3	EMILIN2, LOC112538445 +20 more	Copy number gain	See cases	GLikely benign
Select item 1287645	NM_003803.4(MYOM1):c.*199T>G	MYOM1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 229014	NM_003803.4(MYOM1):c.*10C>T	MYOM1	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 1381439	NM_003803.4(MYOM1):c.5055_5056insA (p.Ter1686MetextTer?)	MYOM1	Insertion (frameshift variant +1 more)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 227706	NM_003803.4(MYOM1):c.5045dup (p.Lys1683fs)	MYOM1 (K1587fs +1 more)	Duplication (frameshift variant)	not specified +1 more	GLikely benign
Select item 1744960	NM_003803.4(MYOM1):c.5042G>T (p.Gly1681Val)	MYOM1 (G1585V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2689518	NM_003803.4(MYOM1):c.5041G>C (p.Gly1681Arg)	MYOM1 (G1585R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1744954	NM_003803.4(MYOM1):c.5041G>A (p.Gly1681Ser)	MYOM1 (G1585S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1482930	NM_003803.4(MYOM1):c.5040_5041inv (p.Gly1681Ser)	MYOM1 (G1585S +1 more)	Inversion (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1442339	NM_003803.4(MYOM1):c.5039_5040inv (p.Gly1680Asp)	MYOM1 (G1584D +1 more)	Inversion (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 226828	NM_003803.4(MYOM1):c.5040T>C (p.Gly1680=)	MYOM1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +3 more	GBenign
Select item 2763299	NM_003803.4(MYOM1):c.5038G>C (p.Gly1680Arg)	MYOM1 (G1584R +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2447680	NM_003803.4(MYOM1):c.5020G>A (p.Ala1674Thr)	MYOM1 (A1578T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 454458	NM_003803.4(MYOM1):c.5019C>T (p.Ala1673=)	MYOM1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 2999434	NM_003803.4(MYOM1):c.5018C>T (p.Ala1673Val)	MYOM1 (A1673V +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1135953	NM_003803.4(MYOM1):c.5010G>A (p.Ala1670=)	MYOM1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2447681	NM_003803.4(MYOM1):c.5009C>A (p.Ala1670Glu)	MYOM1 (A1670E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1361245	NM_003803.4(MYOM1):c.5005_5006insGT (p.Glu1669fs)	MYOM1 (E1669fs +1 more)	Insertion (frameshift variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 946426	NM_003803.4(MYOM1):c.5002G>A (p.Glu1668Lys)	MYOM1 (E1668K +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 227705	NM_003803.4(MYOM1):c.5001G>A (p.Glu1667=)	MYOM1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +3 more	GLikely benign
Select item 699011	NM_003803.4(MYOM1):c.4995C>T (p.Ile1665=)	MYOM1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 2562751	NM_003803.4(MYOM1):c.4993A>G (p.Ile1665Val)	MYOM1 (I1569V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 190459	NM_003803.4(MYOM1):c.4987G>A (p.Val1663Met)	MYOM1 (V1663M +1 more)	Single nucleotide variant (missense variant)	Non-immune hydrops fetalis +1 more	GConflicting classifications of pathogenicity
Select item 1375564	NM_003803.4(MYOM1):c.4986C>T (p.Ser1662=)	MYOM1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 1434567	NM_003803.4(MYOM1):c.4981G>A (p.Val1661Ile)	MYOM1 (V1565I +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 736436	NM_003803.4(MYOM1):c.4980C>T (p.Thr1660=)	MYOM1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 2714805	NM_003803.4(MYOM1):c.4977C>T (p.Phe1659=)	MYOM1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 1981285	NM_003803.4(MYOM1):c.4971C>T (p.Ser1657=)	MYOM1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 520254	NM_003803.4(MYOM1):c.4967C>T (p.Thr1656Ile)	MYOM1 (T1656I +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 416024	NM_003803.4(MYOM1):c.4962G>A (p.Ser1654=)	MYOM1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 416035	NM_003803.4(MYOM1):c.4961C>T (p.Ser1654Leu)	MYOM1 (S1654L +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 2447667	NM_003803.4(MYOM1):c.4956T>C (p.Tyr1652=)	MYOM1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 845652	NM_003803.4(MYOM1):c.4933G>A (p.Gly1645Arg)	MYOM1 (G1645R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1939192	NM_003803.4(MYOM1):c.4932C>T (p.Tyr1644=)	MYOM1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2745266	NM_003803.4(MYOM1):c.4929A>G (p.Lys1643=)	MYOM1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 1099654	NM_003803.4(MYOM1):c.4923G>A (p.Ser1641=)	MYOM1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2016431	NM_003803.4(MYOM1):c.4922C>G (p.Ser1641Trp)	MYOM1 (S1545W +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1744136	NM_003803.4(MYOM1):c.4922C>T (p.Ser1641Leu)	MYOM1 (S1545L +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 1805281	NM_003803.4(MYOM1):c.4920C>G (p.Asp1640Glu)	MYOM1 (D1544E +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2770157	NM_003803.4(MYOM1):c.4916C>T (p.Ala1639Val)	MYOM1 (A1543V +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2448903	NM_003803.4(MYOM1):c.4915G>A (p.Ala1639Thr)	MYOM1 (A1639T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 525061	NM_003803.4(MYOM1):c.4914C>T (p.Thr1638=)	MYOM1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2496771	NM_003803.4(MYOM1):c.4909A>T (p.Ser1637Cys)	MYOM1 (S1541C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 525089	NM_003803.4(MYOM1):c.4908G>A (p.Val1636=)	MYOM1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 1497787	NM_003803.4(MYOM1):c.4906G>A (p.Val1636Met)	MYOM1 (V1540M +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2447666	NM_003803.4(MYOM1):c.4905C>T (p.Gly1635=)	MYOM1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign

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