83715[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 58242	GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1	LOC121967050, LOC121967051 +520 more	Copy number loss	See cases	GPathogenic
Select item 58244	GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	LOC129929262, LOC129929263 +458 more	Copy number loss	See cases	GPathogenic
Select item 149968	GRCh38/hg38 1p36.33-36.31(chr1:821713-7000838)x1	CEP104, CFAP74 +449 more	Copy number loss	See cases	GPathogenic
Select item 154642	GRCh38/hg38 1p36.33-36.23(chr1:844347-7870545)x1	PUSL1, RER1 +470 more	Copy number loss	See cases	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 147354	GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)x1	LOC129929192, LOC129929193 +490 more	Copy number loss	See cases	GPathogenic
Select item 144461	GRCh38/hg38 1p36.33-36.31(chr1:844347-6916587)x1	ACAP3, ACOT7 +441 more	Copy number loss	See cases	GPathogenic
Select item 57440	GRCh38/hg38 1p36.33-36.31(chr1:844347-6477436)x1	ACAP3, ACOT7 +401 more	Copy number loss	See cases	GPathogenic
Select item 150566	GRCh38/hg38 1p36.33-36.31(chr1:844353-6477474)x1	LOC129929237, LOC129929238 +401 more	Copy number loss	See cases	GPathogenic
Select item 58294	GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1	ACAP3, ACOT7 +519 more	Copy number loss	See cases	GPathogenic
Select item 154584	GRCh38/hg38 1p36.33-36.23(chr1:898721-7811306)x1	LOC129929075, LOC129929076 +464 more	Copy number loss	See cases	GPathogenic
Select item 153078	GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1	ACAP3, ACOT7 +578 more	Copy number loss	See cases	GPathogenic
Select item 154548	GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1	LRRC47, MEGF6 +564 more	Copy number loss	See cases	GPathogenic
Select item 153663	GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1	LOC129929302, LOC129929303 +577 more	Copy number loss	See cases	GPathogenic
Select item 57390	GRCh38/hg38 1p36.32-36.23(chr1:2844760-8007940)x1	ACOT7, ACTRT2 +226 more	Copy number loss	See cases	GPathogenic
Select item 152936	GRCh38/hg38 1p36.32-36.23(chr1:2868477-7332569)x1	LOC112577578, LOC112577579 +199 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 59852	GRCh38/hg38 1p36.32-36.23(chr1:3472163-7842947)x1	ACOT7, AJAP1 +193 more	Copy number loss	See cases	GPathogenic
Select item 148387	GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	AADACL3, AADACL4 +500 more	Copy number loss	See cases	GPathogenic
Select item 59856	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	LOC129929435, LOC129929436 +505 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 1184370	NC_000001.11:g.6234122_6508845dup	ACOT7, ESPN +35 more	Duplication	not provided	GUncertain significance
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
Select item 1296853	NC_000001.11:g.6424615C>A	ESPN	Single nucleotide variant	not provided	GBenign
Select item 1231326	NC_000001.11:g.6424625G>A	ESPN	Single nucleotide variant	not provided	GBenign
Select item 1237165	NC_000001.11:g.6424709CGGGG[5]	ESPN	Microsatellite	not provided	GBenign
Select item 1197299	NC_000001.11:g.6424709CGGGG[7]	ESPN	Microsatellite	not provided	GLikely benign
Select item 1263715	NC_000001.11:g.6424729T>C	ESPN, LOC129929238	Single nucleotide variant	not provided	GBenign
Select item 1275204	NM_031475.3(ESPN):c.-138C>T	ESPN, LOC129929238	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1265345	NM_031475.3(ESPN):c.-136A>G	ESPN, LOC129929238	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1203363	NM_031475.3(ESPN):c.-54A>G	ESPN	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1202200	NM_031475.3(ESPN):c.-49G>A	ESPN, LOC129929239	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1207661	NM_031475.3(ESPN):c.-13C>T	ESPN, LOC129929239	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1485690	NM_031475.3(ESPN):c.1A>C (p.Met1Leu)	ESPN (M1L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1306762	NM_031475.3(ESPN):c.26C>G (p.Ala9Gly)	ESPN (A9G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 806042	NM_031475.3(ESPN):c.28G>C (p.Ala10Pro)	ESPN (A10P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1213573	NM_031475.3(ESPN):c.36G>T (p.Gln12His)	ESPN (Q12H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 721894	NM_031475.3(ESPN):c.51G>A (p.Val17=)	ESPN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1311449	NM_031475.3(ESPN):c.56G>A (p.Arg19Lys)	ESPN (R19K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2152197	NM_031475.3(ESPN):c.67G>A (p.Ala23Thr)	ESPN (A23T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1921532	NM_031475.3(ESPN):c.84G>T (p.Gly28=)	ESPN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2307883	NM_031475.3(ESPN):c.94C>T (p.Arg32Cys)	ESPN (R32C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1373960	NM_031475.3(ESPN):c.95G>A (p.Arg32His)	ESPN (R32H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3276466	NM_031475.3(ESPN):c.97G>T (p.Asp33Tyr)	ESPN (D33Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2963364	NM_031475.3(ESPN):c.99C>T (p.Asp33=)	ESPN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2016088	NM_031475.3(ESPN):c.130G>T (p.Ala44Ser)	ESPN (A44S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3276468	NM_031475.3(ESPN):c.139G>C (p.Gly47Arg)	ESPN (G47R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296638	NM_031475.3(ESPN):c.175G>A (p.Ala59Thr)	ESPN (A59T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1444370	NM_031475.3(ESPN):c.190G>T (p.Ala64Ser)	ESPN (A64S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987836	NM_031475.3(ESPN):c.195C>G (p.Ala65=)	ESPN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2689032	NM_031475.3(ESPN):c.200C>T (p.Ala67Val)	ESPN (A67V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573890	NM_031475.3(ESPN):c.200_204delinsTCCAT (p.Ala67_Arg68delinsValHis)	ESPN	Indel (missense variant)	not provided	GUncertain significance
Select item 3021258	NM_031475.3(ESPN):c.201C>T (p.Ala67=)	ESPN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1402536	NM_031475.3(ESPN):c.217C>G (p.Pro73Ala)	ESPN (P73A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1517214	NM_031475.3(ESPN):c.236C>G (p.Ala79Gly)	ESPN (A79G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 452345	NM_031475.3(ESPN):c.241G>A (p.Gly81Ser)	ESPN (G81S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3075897	NM_031475.3(ESPN):c.244dup (p.His82fs)	ESPN (H82fs)	Duplication (frameshift variant)	Rare genetic deafness	GLikely pathogenic
Select item 668259	NM_031475.3(ESPN):c.250G>T (p.Ala84Ser)	ESPN (A84S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 594412	NM_031475.3(ESPN):c.264G>A (p.Trp88Ter)	ESPN (W88*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1947259	NM_031475.3(ESPN):c.277G>A (p.Gly93Ser)	ESPN (G93S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1619412	NM_031475.3(ESPN):c.279C>T (p.Gly93=)	ESPN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2180007	NM_031475.3(ESPN):c.290T>C (p.Val97Ala)	ESPN (V97A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 683327	NM_031475.3(ESPN):c.290T>A (p.Val97Glu)	ESPN (V97E)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 452503	NM_031475.3(ESPN):c.292C>T (p.Gln98Ter)	ESPN (Q98*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2806591	NM_031475.3(ESPN):c.294+12C>T	ESPN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1646540	NM_031475.3(ESPN):c.294+14G>T	ESPN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247887	NM_031475.3(ESPN):c.295-163G>A	ESPN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1707365	NM_031475.3(ESPN):c.295-147dup	ESPN	Duplication (intron variant)	not provided	GLikely benign
Select item 228670	NM_031475.3(ESPN):c.337C>T (p.Arg113Cys)	ESPN (R113C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1254240	NM_031475.3(ESPN):c.338G>A (p.Arg113His)	ESPN (R113H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3257049	NM_031475.3(ESPN):c.343G>C (p.Gly115Arg)	ESPN (G115R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1717694	NM_031475.3(ESPN):c.349C>A (p.Pro117Thr)	ESPN (P117T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1549992	NM_031475.3(ESPN):c.351C>G (p.Pro117=)	ESPN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 732558	NM_031475.3(ESPN):c.351C>T (p.Pro117=)	ESPN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 806043	NM_031475.3(ESPN):c.381C>T (p.Gly127=)	ESPN	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1205488	NM_031475.3(ESPN):c.382G>A (p.Gly128Ser)	ESPN (G128S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 180073	NM_031475.3(ESPN):c.382G>T (p.Gly128Cys)	ESPN (G128C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3020399	NM_031475.3(ESPN):c.390C>T (p.Asp130=)	ESPN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2219197	NM_031475.3(ESPN):c.390C>G (p.Asp130Glu)	ESPN (D130E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1707269	NM_031475.3(ESPN):c.390C>A (p.Asp130Glu)	ESPN (D130E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 749320	NM_031475.3(ESPN):c.396C>T (p.Thr132=)	ESPN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1308063	NM_031475.3(ESPN):c.398C>T (p.Ala133Val)	ESPN (A133V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1186850	NM_031475.3(ESPN):c.407A>G (p.Asp136Gly)	ESPN (D136G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1505720	NM_031475.3(ESPN):c.413G>T (p.Gly138Val)	ESPN (G138V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312642	NM_031475.3(ESPN):c.415G>A (p.Ala139Thr)	ESPN (A139T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1628494	NM_031475.3(ESPN):c.432C>T (p.Tyr144=)	ESPN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734575	NM_031475.3(ESPN):c.438C>T (p.Ala146=)	ESPN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 179234	NM_031475.3(ESPN):c.439G>A (p.Ala147Thr)	ESPN (A147T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2121406	NM_031475.3(ESPN):c.447A>G (p.Gly149=)	ESPN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3276463	NM_031475.3(ESPN):c.451T>C (p.Phe151Leu)	ESPN (F151L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1307338	NM_031475.3(ESPN):c.451T>A (p.Phe151Ile)	ESPN (F151I)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3090488	NM_031475.3(ESPN):c.466C>T (p.Leu156Phe)	ESPN (L156F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2979636	NM_031475.3(ESPN):c.488+12C>T	ESPN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181273	NM_031475.3(ESPN):c.488+32G>A	ESPN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289722	NM_031475.3(ESPN):c.489-249_489-247del	ESPN	Microsatellite (intron variant)	not provided	GBenign
Select item 1183461	NM_031475.3(ESPN):c.489-236dup	ESPN	Duplication (intron variant)	not provided	GBenign
Select item 1257493	NM_031475.3(ESPN):c.489-169G>T	ESPN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2955942	NM_031475.3(ESPN):c.489-10G>A	ESPN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1303441	NM_031475.3(ESPN):c.493G>A (p.Val165Met)	ESPN (V165M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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