220202[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
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 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 152357	GRCh38/hg38 10q21.3(chr10:68187812-68333410)x3	ATOH7, HNRNPH3 +20 more	Copy number gain	See cases	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 1083692	NM_145178.4(ATOH7):c.453C>T (p.Ala151=)	ATOH7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1386842	NM_145178.4(ATOH7):c.446A>G (p.Gln149Arg)	ATOH7 (Q149R)	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 1953720	NM_145178.4(ATOH7):c.435C>T (p.Pro145=)	ATOH7	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 1898269	NM_145178.4(ATOH7):c.433C>G (p.Pro145Ala)	ATOH7 (P145A)	Single nucleotide variant (missense variant)	not specified +1 more	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 1463189	NM_145178.4(ATOH7):c.410G>A (p.Ser137Asn)	ATOH7 (S137N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1957512	NM_145178.4(ATOH7):c.408C>T (p.Tyr136=)	ATOH7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 935848	NM_145178.4(ATOH7):c.404T>C (p.Leu135Pro)	ATOH7 (L135P)	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 provided +1 more	GUncertain significance
Select item 1088234	NM_145178.4(ATOH7):c.396G>A (p.Glu132=)	ATOH7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1475758	NM_145178.4(ATOH7):c.389C>A (p.Pro130Gln)	ATOH7 (P130Q)	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 1500783	NM_145178.4(ATOH7):c.376G>C (p.Gly126Arg)	ATOH7 (G126R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1123106	NM_145178.4(ATOH7):c.375G>C (p.Pro125=)	ATOH7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1351089	NM_145178.4(ATOH7):c.362del (p.Tyr121fs)	ATOH7 (Y121fs)	Deletion (frameshift 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 1025417	NM_145178.4(ATOH7):c.356A>G (p.Asp119Gly)	ATOH7 (D119G)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 933794	NM_145178.4(ATOH7):c.355G>A (p.Asp119Asn)	ATOH7 (D119N)	Single nucleotide variant (missense 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 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 1167445	NM_145178.4(ATOH7):c.336C>T (p.His112=)	ATOH7	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 862965	NM_145178.4(ATOH7):c.324G>A (p.Trp108Ter)	ATOH7 (W108*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 959469	NM_145178.4(ATOH7):c.308G>C (p.Gly103Ala)	ATOH7 (G103A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1952068	NM_145178.4(ATOH7):c.306C>T (p.Phe102=)	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 2001779	NM_145178.4(ATOH7):c.291C>A (p.Ala97=)	ATOH7	Single nucleotide variant (synonymous 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 1413414	NM_145178.4(ATOH7):c.280C>T (p.Arg94Trp)	ATOH7 (R94W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 954266	NM_145178.4(ATOH7):c.275T>C (p.Leu92Pro)	ATOH7 (L92P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1025759	NM_145178.4(ATOH7):c.272C>G (p.Ala91Gly)	ATOH7 (A91G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1015485	NM_145178.4(ATOH7):c.270G>A (p.Met90Ile)	ATOH7 (M90I)	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 1056070	NM_145178.4(ATOH7):c.268A>C (p.Met90Leu)	ATOH7 (M90L)	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 1475147	NM_145178.4(ATOH7):c.250A>G (p.Met84Val)	ATOH7 (M84V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 848325	NM_145178.4(ATOH7):c.240G>C (p.Glu80Asp)	ATOH7 (E80D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1062921	NM_145178.4(ATOH7):c.232_237del (p.Lys78_Tyr79del)	ATOH7	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1643561	NM_145178.4(ATOH7):c.234G>A (p.Lys78=)	ATOH7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2544262	NM_145178.4(ATOH7):c.216G>C (p.Gln72His)	ATOH7 (Q72H)	Single nucleotide variant (missense variant)	not specified	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 2006400	NM_145178.4(ATOH7):c.210G>A (p.Trp70Ter)	ATOH7 (W70*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1059783	NM_145178.4(ATOH7):c.206A>G (p.Gln69Arg)	ATOH7 (Q69R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1168752	NM_145178.4(ATOH7):c.204C>T (p.Pro68=)	ATOH7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1022908	NM_145178.4(ATOH7):c.203C>G (p.Pro68Arg)	ATOH7 (P68R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2080669	NM_145178.4(ATOH7):c.202C>G (p.Pro68Ala)	ATOH7 (P68A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1058450	NM_145178.4(ATOH7):c.199G>C (p.Val67Leu)	ATOH7 (V67L)	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 1169396	NM_145178.4(ATOH7):c.193A>G (p.Arg65Gly)	ATOH7 (R65G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1147456	NM_145178.4(ATOH7):c.189A>G (p.Leu63=)	ATOH7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 848320	NM_145178.4(ATOH7):c.184C>A (p.Arg62Ser)	ATOH7 (R62S)	Single nucleotide variant (missense variant)	not specified +1 more	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 812673	NM_145178.4(ATOH7):c.176C>T (p.Ala59Val)	ATOH7 (A59V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 812672	NM_145178.4(ATOH7):c.175G>A (p.Ala59Thr)	ATOH7 (A59T)	Single nucleotide variant (missense variant)	Foveal hypoplasia +1 more	GPathogenic
Select item 961790	NM_145178.4(ATOH7):c.173C>T (p.Thr58Ile)	ATOH7 (T58I)	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 1135820	NM_145178.4(ATOH7):c.171C>T (p.Asn57=)	ATOH7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 999171	NM_145178.4(ATOH7):c.170A>G (p.Asn57Ser)	ATOH7 (N57S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 960905	NM_145178.4(ATOH7):c.166C>T (p.Leu56Phe)	ATOH7 (L56F)	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 1020462	NM_145178.4(ATOH7):c.161A>C (p.Gln54Pro)	ATOH7 (Q54P)	Single nucleotide variant (missense variant)	not provided +1 more	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 941421	NM_145178.4(ATOH7):c.144_145dup (p.Glu49fs)	ATOH7 (E49fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 144065	NM_145178.4(ATOH7):c.146A>T (p.Glu49Val)	ATOH7 (E49V)	Single nucleotide variant (missense variant)	Persistent hyperplastic primary vitreous, autosomal recessive	GPathogenic
Select item 1080896	NM_145178.4(ATOH7):c.144C>T (p.Arg48=)	ATOH7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1034468	NM_145178.4(ATOH7):c.121_144del (p.Arg41_Arg48del)	ATOH7	Deletion (inframe_deletion)	not provided	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 1025309	NM_145178.4(ATOH7):c.137A>G (p.Asn46Ser)	ATOH7 (N46S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 144067	NM_145178.4(ATOH7):c.136A>C (p.Asn46His)	ATOH7 (N46H)	Single nucleotide variant (missense variant)	Persistent hyperplastic primary vitreous, autosomal recessive	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 1020419	NM_145178.4(ATOH7):c.131C>A (p.Ala44Glu)	ATOH7 (A44E)	Single nucleotide variant (missense variant)	not provided +1 more	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 1378753	NM_145178.4(ATOH7):c.124C>A (p.Arg42Ser)	ATOH7 (R42S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 963180	NM_145178.4(ATOH7):c.124C>G (p.Arg42Gly)	ATOH7 (R42G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1643175	NM_145178.4(ATOH7):c.102G>C (p.Arg34=)	ATOH7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 934423	NM_145178.4(ATOH7):c.100C>T (p.Arg34Trp)	ATOH7 (R34W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1104170	NM_145178.4(ATOH7):c.99G>T (p.Gly33=)	ATOH7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 955209	NM_145178.4(ATOH7):c.67_90dup (p.Thr23_Ala30dup)	ATOH7, LOC130003943	Duplication (inframe_insertion)	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 1000291	NM_145178.4(ATOH7):c.83C>G (p.Thr28Arg)	ATOH7, LOC130003943 (T28R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 851114	NM_145178.4(ATOH7):c.64_81dup (p.Gly22_Gly27dup)	ATOH7, LOC130003943	Duplication (inframe_insertion)	not provided	GUncertain significance

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