4644[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146334	GRCh38/hg38 15q21.1-21.2(chr15:47460844-52494222)x1	AP4E1, ATP8B4 +190 more	Copy number loss	See cases	GPathogenic
Select item 57881	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1	ADAM10, ALDH1A2 +287 more	Copy number loss	See cases	GPathogenic
Select item 147481	GRCh38/hg38 15q21.2-21.3(chr15:51276690-57088386)x1	ARPP19, ATOSA +176 more	Copy number loss	See cases	GPathogenic
Select item 17824	NC_000015.10:g.(51338597_?)_(?_57376504)inv	LOC105370829, LOC108281154 +179 more	Inversion	Aromatase excess syndrome	GPathogenic
Select item 2665011	GRCh38/hg38 15q21.2(chr15:52095744-52533191)	LOC130057077, LOC130057078 +23 more	Copy number loss	not provided	GLikely pathogenic
Select item 1280102	NM_001382347.1(MYO5A):c.*32T>C	MYO5A	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 435920	NM_001382347.1(MYO5A):c.*3G>C	MYO5A	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 2355650	NM_001382347.1(MYO5A):c.5636G>C (p.Arg1879Pro)	MYO5A (R1879P +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 211573	NM_001382347.1(MYO5A):c.5619C>T (p.Gly1873=)	MYO5A	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 2229757	NM_001382347.1(MYO5A):c.5612G>C (p.Ser1871Thr)	MYO5A (S1895T +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229756	NM_001382347.1(MYO5A):c.5611A>G (p.Ser1871Gly)	MYO5A (S1870G +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 717952	NM_001382347.1(MYO5A):c.5595C>G (p.Thr1865=)	MYO5A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1958258	NM_001382347.1(MYO5A):c.5584G>A (p.Ala1862Thr)	MYO5A (A1861T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2645356	NM_001382347.1(MYO5A):c.5574A>G (p.Pro1858=)	MYO5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3297879	NM_001382347.1(MYO5A):c.5523G>C (p.Gln1841His)	MYO5A (Q1816H +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1723023	NM_001382347.1(MYO5A):c.5500C>T (p.Arg1834Ter)	MYO5A (R1782* +5 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3297872	NM_001382347.1(MYO5A):c.5495G>A (p.Arg1832His)	MYO5A (R1780H +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1586784	NM_001382347.1(MYO5A):c.5491-15T>C	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1920552	NM_001382347.1(MYO5A):c.5490+17T>A	MYO5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 764740	NM_001382347.1(MYO5A):c.5471C>T (p.Ser1824Leu)	MYO5A (S1772L +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 255656	NM_001382347.1(MYO5A):c.5409+16C>T	MYO5A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 211572	NM_001382347.1(MYO5A):c.5409+4G>A	MYO5A	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 1604396	NM_001382347.1(MYO5A):c.5373C>T (p.Ala1791=)	MYO5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 795960	NM_001382347.1(MYO5A):c.5316C>T (p.Leu1772=)	MYO5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2262865	NM_001382347.1(MYO5A):c.5235-6T>C	MYO5A	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2414872	NM_001382347.1(MYO5A):c.5235-7T>C	MYO5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1971556	NM_001382347.1(MYO5A):c.5234+18C>T	MYO5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1299850	NM_001382347.1(MYO5A):c.5234+12C>T	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 763985	NM_001382347.1(MYO5A):c.5229G>A (p.Gln1743=)	MYO5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3297881	NM_001382347.1(MYO5A):c.5167G>T (p.Ala1723Ser)	MYO5A (A1695S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 235746	NM_001382347.1(MYO5A):c.5140G>A (p.Val1714Ile)	MYO5A (V1689I +4 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2182286	NM_001382347.1(MYO5A):c.5133G>A (p.Lys1711=)	MYO5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 749166	NM_001382347.1(MYO5A):c.5121T>G (p.Pro1707=)	MYO5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2205053	NM_001382347.1(MYO5A):c.5096T>A (p.Val1699Asp)	MYO5A (V1647D +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 770432	NM_001382347.1(MYO5A):c.5093C>T (p.Ser1698Leu)	MYO5A (S1673L +4 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 255655	NM_001382347.1(MYO5A):c.5040T>C (p.Asp1680=)	MYO5A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2560822	NM_001382347.1(MYO5A):c.5038G>A (p.Asp1680Asn)	MYO5A (D1652N +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063584	NM_001382347.1(MYO5A):c.5034C>G (p.Ile1678Met)	MYO5A (I1626M +5 more)	Single nucleotide variant (missense variant)	Griscelli syndrome type 1	GUncertain significance
Select item 740144	NM_001382347.1(MYO5A):c.5020C>A (p.Arg1674=)	MYO5A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 756536	NM_001382347.1(MYO5A):c.4996G>C (p.Val1666Leu)	MYO5A (V1641L +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 736494	NM_001382347.1(MYO5A):c.4986C>G (p.Gly1662=)	MYO5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 211571	NM_001382347.1(MYO5A):c.4977G>A (p.Thr1659=)	MYO5A	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 2661988	NM_001382347.1(MYO5A):c.4976C>T (p.Thr1659Met)	MYO5A (T1607M +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 708821	NM_001382347.1(MYO5A):c.4952-6C>T	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2031558	NM_001382347.1(MYO5A):c.4952-9del	MYO5A	Deletion (intron variant)	not provided	GLikely benign
Select item 1599099	NM_001382347.1(MYO5A):c.4952-18A>G	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3039602	NM_001382347.1(MYO5A):c.4952-25_4952-23del	MYO5A	Deletion (intron variant)	MYO5A-related disorder	GLikely benign
Select item 1181693	NM_001382347.1(MYO5A):c.4952-217G>A	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232805	NM_001382347.1(MYO5A):c.4952-286C>A	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244587	NM_001382347.1(MYO5A):c.4951+54G>A	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3047714	NM_001382347.1(MYO5A):c.4951+3A>G	MYO5A	Single nucleotide variant (intron variant)	MYO5A-related disorder	GLikely benign
Select item 3297866	NM_001382347.1(MYO5A):c.4915G>A (p.Val1639Met)	MYO5A (V1638M +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 769883	NM_001382347.1(MYO5A):c.4914C>G (p.Leu1638=)	MYO5A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 793012	NM_001382347.1(MYO5A):c.4904A>T (p.Tyr1635Phe)	MYO5A (Y1583F +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3058721	NM_001382347.1(MYO5A):c.4893C>T (p.Ala1631=)	MYO5A	Single nucleotide variant (synonymous variant)	MYO5A-related disorder	GLikely benign
Select item 3165076	NM_001382347.1(MYO5A):c.4879C>G (p.Leu1627Val)	MYO5A (L1627V +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1590619	NM_001382347.1(MYO5A):c.4801-5T>C	MYO5A	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1174465	NM_001382347.1(MYO5A):c.4800+261T>C	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1988117	NM_001382347.1(MYO5A):c.4800+14G>A	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 748026	NM_001382347.1(MYO5A):c.4794A>G (p.Gly1598=)	MYO5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645357	NM_001382347.1(MYO5A):c.4764A>G (p.Arg1588=)	MYO5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3165069	NM_001382347.1(MYO5A):c.4738T>G (p.Ser1580Ala)	MYO5A (S1555A +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518002	NM_001382347.1(MYO5A):c.4735G>A (p.Val1579Ile)	MYO5A (V1554I +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1286954	NM_001382347.1(MYO5A):c.4711-71A>G	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 755567	NM_001382347.1(MYO5A):c.4614G>T (p.Leu1538=)	MYO5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 740721	NM_001382347.1(MYO5A):c.4602G>A (p.Pro1534=)	MYO5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734634	NM_001382347.1(MYO5A):c.4596A>C (p.Gly1532=)	MYO5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 981854	NM_001382347.1(MYO5A):c.4591C>G (p.Pro1531Ala)	MYO5A (P1479A +4 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 1369212	NM_001382347.1(MYO5A):c.4555+2C>T	MYO5A	Single nucleotide variant (splice donor variant)	Griscelli syndrome type 1 +1 more	GUncertain significance
Select item 786269	NM_001382347.1(MYO5A):c.4506G>A (p.Leu1502=)	MYO5A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1592138	NM_001382347.1(MYO5A):c.4461A>G (p.Arg1487=)	MYO5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2150292	NM_001382347.1(MYO5A):c.4455C>T (p.Pro1485=)	MYO5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 733436	NM_001382347.1(MYO5A):c.4432C>T (p.Pro1478Ser)	MYO5A (P1426S +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 748027	NM_001382347.1(MYO5A):c.4416G>A (p.Gln1472=)	MYO5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2258492	NM_001382347.1(MYO5A):c.4411G>A (p.Gly1471Ser)	MYO5A (G1471S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1238884	NM_001382347.1(MYO5A):c.4409-86A>C	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258445	NM_001382347.1(MYO5A):c.4408+171A>G	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2873318	NM_001382347.1(MYO5A):c.4408+17T>C	MYO5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2645358	NM_001382347.1(MYO5A):c.4349C>T (p.Thr1450Met)	MYO5A (T1398M +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2230758	NM_001382347.1(MYO5A):c.4348A>G (p.Thr1450Ala)	MYO5A (T1449A +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2413620	NM_001382347.1(MYO5A):c.4328A>G (p.Gln1443Arg)	MYO5A (Q1391R +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 14071	NM_001382347.1(MYO5A):c.4239+871_4315-331del	MYO5A	Deletion (intron variant +2 more)	Griscelli syndrome type 3	GPathogenic
Select item 1245926	NM_001382347.1(MYO5A):c.4239+178G>A	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 255653	NM_001382347.1(MYO5A):c.4239+20C>T	MYO5A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1298625	NM_001382347.1(MYO5A):c.4231G>A (p.Glu1411Lys)	MYO5A (E1384K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 242881	NM_001382347.1(MYO5A):c.4200C>G (p.Ser1400Arg)	MYO5A (S1400R +2 more)	Single nucleotide variant (missense variant)	Dystonic disorder +4 more	GPathogenic
Select item 2381483	NM_001382347.1(MYO5A):c.4190T>C (p.Ile1397Thr)	MYO5A (I1397T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257807	NM_001382347.1(MYO5A):c.4165C>A (p.Leu1389Met)	MYO5A (L1362M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 764139	NM_001382347.1(MYO5A):c.4116G>A (p.Gln1372=)	MYO5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1049681	NM_001382347.1(MYO5A):c.4103G>A (p.Arg1368His)	MYO5A (R1341H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3165042	NM_001382347.1(MYO5A):c.4102C>T (p.Arg1368Cys)	MYO5A (R1365C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297869	NM_001382347.1(MYO5A):c.4093G>A (p.Glu1365Lys)	MYO5A (E1362K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2956193	NM_001382347.1(MYO5A):c.4062G>A (p.Gln1354=)	MYO5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2748884	NM_001382347.1(MYO5A):c.4041-4G>A	MYO5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964831	NM_001382347.1(MYO5A):c.4041-17A>G	MYO5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1252962	NM_001382347.1(MYO5A):c.4041-57G>T	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225307	NM_001382347.1(MYO5A):c.4040+291G>C	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269492	NM_001382347.1(MYO5A):c.4040+255C>T	MYO5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235969	NM_001382347.1(MYO5A):c.4040+215dup	MYO5A	Duplication (intron variant)	not provided	GBenign
Select item 1313469	NM_001382347.1(MYO5A):c.4028A>G (p.Lys1343Arg)	MYO5A (K1343R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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