ClinVar for Gene (Select 220202) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3327091	NM_145178.4(ATOH7):c.202C>T (p.Pro68Ser)	ATOH7 (P68S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131129	NM_145178.4(ATOH7):c.365T>G (p.Leu122Arg)	ATOH7 (L122R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024480	NC_000010.11:g.(?_59792917)_(68231677_?)del	LOC124403968, LOC124403969 +220 more	Deletion	Intellectual developmental disorder, autosomal dominant 70	GLikely pathogenic
Select item 2685375	GRCh37/hg19 10q11.23-22.1(chr10:51735638-70791246)x1	A1CF, ADO +51 more	Copy number loss	not provided	GPathogenic
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2622953	NM_145178.4(ATOH7):c.133G>A (p.Ala45Thr)	ATOH7 (A45T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614907	NM_145178.4(ATOH7):c.79G>A (p.Gly27Ser)	ATOH7, LOC130003943 (G27S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2544262	NM_145178.4(ATOH7):c.216G>C (p.Gln72His)	ATOH7 (Q72H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2504092	NM_145178.4(ATOH7):c.154C>G (p.Arg52Gly)	ATOH7 (R52G)	Single nucleotide variant (missense variant)	Persistent hyperplastic primary vitreous, autosomal recessive	GLikely pathogenic
Select item 2374067	NM_145178.4(ATOH7):c.218A>G (p.Asp73Gly)	ATOH7 (D73G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319398	NM_145178.4(ATOH7):c.140C>T (p.Ala47Val)	ATOH7 (A47V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2136867	NM_145178.4(ATOH7):c.139G>A (p.Ala47Thr)	ATOH7 (A47T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2112595	NM_145178.4(ATOH7):c.28C>T (p.Pro10Ser)	ATOH7, LOC130003943 (P10S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2098018	NM_145178.4(ATOH7):c.187T>A (p.Leu63Ile)	ATOH7 (L63I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2088238	NM_145178.4(ATOH7):c.53C>G (p.Pro18Arg)	ATOH7, LOC130003943 (P18R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2085019	NM_145178.4(ATOH7):c.59C>G (p.Ala20Gly)	ATOH7, LOC130003943 (A20G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2080669	NM_145178.4(ATOH7):c.202C>G (p.Pro68Ala)	ATOH7 (P68A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2057438	NM_145178.4(ATOH7):c.360C>T (p.His120=)	ATOH7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2052977	NM_145178.4(ATOH7):c.33G>A (p.Ala11=)	ATOH7, LOC130003943	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2051478	NM_145178.4(ATOH7):c.109A>G (p.Ser37Gly)	ATOH7 (S37G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2044902	NM_145178.4(ATOH7):c.35G>A (p.Gly12Glu)	ATOH7, LOC130003943 (G12E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2006400	NM_145178.4(ATOH7):c.210G>A (p.Trp70Ter)	ATOH7 (W70*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2004447	NM_145178.4(ATOH7):c.6G>C (p.Lys2Asn)	ATOH7 (K2N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2002070	NM_145178.4(ATOH7):c.402G>T (p.Glu134Asp)	ATOH7 (E134D)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2001779	NM_145178.4(ATOH7):c.291C>A (p.Ala97=)	ATOH7	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1970956	NM_145178.4(ATOH7):c.348C>G (p.Phe116Leu)	ATOH7 (F116L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1970337	NM_145178.4(ATOH7):c.24C>T (p.Gly8=)	ATOH7, LOC130003943	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1957512	NM_145178.4(ATOH7):c.408C>T (p.Tyr136=)	ATOH7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1953720	NM_145178.4(ATOH7):c.435C>T (p.Pro145=)	ATOH7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1952068	NM_145178.4(ATOH7):c.306C>T (p.Phe102=)	ATOH7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1949899	NM_145178.4(ATOH7):c.7T>C (p.Ser3Pro)	ATOH7 (S3P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1949859	NM_145178.4(ATOH7):c.426C>T (p.Gly142=)	ATOH7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1942010	NM_145178.4(ATOH7):c.62_63delinsTT (p.Gly21Val)	ATOH7, LOC130003943 (G21V)	Indel (missense variant)	not provided	GUncertain significance
Select item 1932967	NM_145178.4(ATOH7):c.449T>C (p.Met150Thr)	ATOH7 (M150T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1924592	NM_145178.4(ATOH7):c.68C>A (p.Thr23Asn)	ATOH7, LOC130003943 (T23N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1918329	NM_145178.4(ATOH7):c.193A>C (p.Arg65=)	ATOH7	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1898269	NM_145178.4(ATOH7):c.433C>G (p.Pro145Ala)	ATOH7 (P145A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1897005	NM_145178.4(ATOH7):c.383A>C (p.Lys128Thr)	ATOH7 (K128T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809501	GRCh37/hg19 10q21.3(chr10:69824933-70064085)x1	ATOH7, HERC4 +2 more	Copy number loss	not provided	GUncertain significance
Select item 1808172	GRCh37/hg19 10q21.3(chr10:69824933-70070858)x1	ATOH7, HERC4 +2 more	Copy number loss	not provided	GUncertain significance
Select item 1715539	NM_145178.4(ATOH7):c.28C>G (p.Pro10Ala)	ATOH7, LOC130003943 (P10A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1715464	NM_145178.4(ATOH7):c.74G>A (p.Cys25Tyr)	ATOH7, LOC130003943 (C25Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1660574	NM_145178.4(ATOH7):c.78G>A (p.Ala26=)	ATOH7, LOC130003943	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1647377	NM_145178.4(ATOH7):c.435C>G (p.Pro145=)	ATOH7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1643561	NM_145178.4(ATOH7):c.234G>A (p.Lys78=)	ATOH7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1643175	NM_145178.4(ATOH7):c.102G>C (p.Arg34=)	ATOH7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1604426	NM_145178.4(ATOH7):c.48A>T (p.Ala16=)	ATOH7, LOC130003943	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1527589	GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714)	ADAMTS14, ADK +91 more	Copy number loss	not specified	GPathogenic
Select item 1520190	NM_145178.4(ATOH7):c.245T>A (p.Leu82Gln)	ATOH7 (L82Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1518238	NM_145178.4(ATOH7):c.211G>C (p.Gly71Arg)	ATOH7 (G71R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1516555	NM_145178.4(ATOH7):c.329G>A (p.Gly110Asp)	ATOH7 (G110D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1508708	NM_145178.4(ATOH7):c.22G>A (p.Gly8Ser)	ATOH7, LOC130003943 (G8S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1504647	NM_145178.4(ATOH7):c.70G>T (p.Glu24Ter)	ATOH7, LOC130003943 (E24*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1500783	NM_145178.4(ATOH7):c.376G>C (p.Gly126Arg)	ATOH7 (G126R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1496341	NM_145178.4(ATOH7):c.58G>A (p.Ala20Thr)	ATOH7, LOC130003943 (A20T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1493196	NM_145178.4(ATOH7):c.88G>A (p.Ala30Thr)	ATOH7, LOC130003943 (A30T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1487805	NM_145178.4(ATOH7):c.130G>C (p.Ala44Pro)	ATOH7 (A44P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1478666	NM_145178.4(ATOH7):c.172A>G (p.Thr58Ala)	ATOH7 (T58A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1475758	NM_145178.4(ATOH7):c.389C>A (p.Pro130Gln)	ATOH7 (P130Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1475147	NM_145178.4(ATOH7):c.250A>G (p.Met84Val)	ATOH7 (M84V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1469294	NM_145178.4(ATOH7):c.251T>A (p.Met84Lys)	ATOH7 (M84K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1465923	NM_145178.4(ATOH7):c.436G>A (p.Glu146Lys)	ATOH7 (E146K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1463189	NM_145178.4(ATOH7):c.410G>A (p.Ser137Asn)	ATOH7 (S137N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1461771	NM_145178.4(ATOH7):c.180C>A (p.Phe60Leu)	ATOH7 (F60L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1460888	NM_145178.4(ATOH7):c.455C>T (p.Thr152Ile)	ATOH7 (T152I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1449737	NM_145178.4(ATOH7):c.26del (p.Pro9fs)	ATOH7, LOC130003943 (P9fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1444876	NC_000010.10:g.(?_67680088)_(71332799_?)del	ATOH7, CCAR1 +24 more	Deletion	not provided	GPathogenic
Select item 1418004	NM_145178.4(ATOH7):c.53C>A (p.Pro18Gln)	ATOH7, LOC130003943 (P18Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1413414	NM_145178.4(ATOH7):c.280C>T (p.Arg94Trp)	ATOH7 (R94W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1396630	NM_145178.4(ATOH7):c.26C>T (p.Pro9Leu)	ATOH7, LOC130003943 (P9L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1395815	NM_145178.4(ATOH7):c.347T>G (p.Phe116Cys)	ATOH7 (F116C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1395672	NM_145178.4(ATOH7):c.336C>G (p.His112Gln)	ATOH7 (H112Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1386842	NM_145178.4(ATOH7):c.446A>G (p.Gln149Arg)	ATOH7 (Q149R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1378753	NM_145178.4(ATOH7):c.124C>A (p.Arg42Ser)	ATOH7 (R42S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1371028	NM_145178.4(ATOH7):c.289G>C (p.Ala97Pro)	ATOH7 (A97P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1361568	NM_145178.4(ATOH7):c.269T>C (p.Met90Thr)	ATOH7 (M90T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1360120	NM_145178.4(ATOH7):c.162G>C (p.Gln54His)	ATOH7 (Q54H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1352319	NM_145178.4(ATOH7):c.22G>T (p.Gly8Cys)	ATOH7, LOC130003943 (G8C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1351089	NM_145178.4(ATOH7):c.362del (p.Tyr121fs)	ATOH7 (Y121fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1266780	NM_145178.4(ATOH7):c.-315A>C	ATOH7	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1254659	NM_145178.4(ATOH7):c.-234C>T	ATOH7	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1253017	NM_145178.4(ATOH7):c.-185A>G	ATOH7	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1237376	NM_145178.4(ATOH7):c.-419T>C	ATOH7	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1169396	NM_145178.4(ATOH7):c.193A>G (p.Arg65Gly)	ATOH7 (R65G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1168752	NM_145178.4(ATOH7):c.204C>T (p.Pro68=)	ATOH7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1167445	NM_145178.4(ATOH7):c.336C>T (p.His112=)	ATOH7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1157663	NM_145178.4(ATOH7):c.69C>T (p.Thr23=)	ATOH7, LOC130003943	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1147456	NM_145178.4(ATOH7):c.189A>G (p.Leu63=)	ATOH7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1135820	NM_145178.4(ATOH7):c.171C>T (p.Asn57=)	ATOH7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1125733	NM_145178.4(ATOH7):c.297C>T (p.Ala99=)	ATOH7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1123723	NM_145178.4(ATOH7):c.27G>T (p.Pro9=)	ATOH7, LOC130003943	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1123106	NM_145178.4(ATOH7):c.375G>C (p.Pro125=)	ATOH7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1104170	NM_145178.4(ATOH7):c.99G>T (p.Gly33=)	ATOH7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1088234	NM_145178.4(ATOH7):c.396G>A (p.Glu132=)	ATOH7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1083692	NM_145178.4(ATOH7):c.453C>T (p.Ala151=)	ATOH7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1080896	NM_145178.4(ATOH7):c.144C>T (p.Arg48=)	ATOH7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1080757	NM_145178.4(ATOH7):c.48A>G (p.Ala16=)	ATOH7, LOC130003943	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1062921	NM_145178.4(ATOH7):c.232_237del (p.Lys78_Tyr79del)	ATOH7	Deletion (inframe_deletion)	not provided	GUncertain significance

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