14550[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 153276	GRCh38/hg38 10q22.3-23.2(chr10:79689360-87223773)x1	ADIRF, ADIRF-AS1 +174 more	Copy number loss	See cases	GPathogenic
Select item 58748	GRCh38/hg38 10q22.3-23.2(chr10:79719429-87358394)x1	ADIRF, ADIRF-AS1 +178 more	Copy number loss	See cases	GPathogenic
Select item 147367	GRCh38/hg38 10q22.3-23.2(chr10:79802022-87068261)x1	ADIRF, ADIRF-AS1 +166 more	Copy number loss	See cases	GPathogenic
Select item 58751	GRCh38/hg38 10q22.3-23.2(chr10:79802022-87358394)x1	ADIRF, ADIRF-AS1 +178 more	Copy number loss	See cases	GPathogenic
Select item 155111	GRCh38/hg38 10q22.3-23.2(chr10:79881238-87180672)x1	FAM25A, GHITM +168 more	Copy number loss	See cases	GPathogenic
Select item 59702	GRCh38/hg38 10q22.3-23.2(chr10:79881238-87182117)x3	SHLD2, SNCG +168 more	Copy number gain	See cases	GPathogenic
Select item 33096	GRCh38/hg38 10q22.3-23.2(chr10:79882162-87068261)x1	ADIRF, ADIRF-AS1 +163 more	Copy number loss	See cases	GPathogenic
Select item 58757	GRCh38/hg38 10q22.3-23.2(chr10:79898516-87109827)x1	LOC130004227, LOC130004228 +168 more	Copy number loss	See cases	GPathogenic
Select item 58755	GRCh38/hg38 10q22.3-23.2(chr10:79898516-87358394)x1	ADIRF, ADIRF-AS1 +175 more	Copy number loss	See cases	GPathogenic
Select item 58754	GRCh38/hg38 10q22.3-23.2(chr10:79898516-86964367)x1	ANXA11, BMPR1A +150 more	Copy number loss	See cases	GPathogenic
Select item 146022	GRCh38/hg38 10q22.3-23.2(chr10:79925613-86951708)x1	LINC00857, LINC00858 +147 more	Copy number loss	See cases	GPathogenic
Select item 57890	GRCh38/hg38 10q23.1(chr10:82794503-84537954)x3	CCSER2, CDHR1 +30 more	Copy number gain	See cases	GUncertain significance
Select item 147427	GRCh38/hg38 10q23.1(chr10:83303800-84989052)x3	CCSER2, CDHR1 +31 more	Copy number gain	See cases	GUncertain significance
Select item 153065	GRCh38/hg38 10q23.1(chr10:83412936-84584646)x3	CCSER2, CDHR1 +28 more	Copy number gain	See cases	GUncertain significance
Select item 301206	NM_033100.4(CDHR1):c.-64G>A	CDHR1, LOC130004216	Single nucleotide variant (5 prime UTR variant)	Cone-rod dystrophy 15 +1 more	GLikely benign
Select item 301207	NM_033100.4(CDHR1):c.-33C>T	CDHR1, LOC130004216	Single nucleotide variant (5 prime UTR variant)	Cone-rod dystrophy 15	GUncertain significance
Select item 193475	NM_033100.4(CDHR1):c.-1C>T	CDHR1	Single nucleotide variant (5 prime UTR variant)	Cone-rod dystrophy 15 +2 more	GBenign/Likely benign
Select item 812258	NM_033100.4(CDHR1):c.1A>T (p.Met1Leu)	CDHR1 (M1L)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa	GPathogenic
Select item 193474	NM_033100.4(CDHR1):c.1A>G (p.Met1Val)	CDHR1 (M1V)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 15 +2 more	GPathogenic/Likely pathogenic
Select item 1970936	NM_033100.4(CDHR1):c.4A>G (p.Arg2Gly)	CDHR1 (R2G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2002681	NM_033100.4(CDHR1):c.7C>T (p.Arg3Cys)	CDHR1 (R3C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1213967	NM_033100.4(CDHR1):c.10del (p.Cys4fs)	CDHR1 (C4fs)	Deletion (frameshift variant)	Cone-rod dystrophy 15	GLikely pathogenic
Select item 1473113	NM_033100.4(CDHR1):c.13C>T (p.Arg5Trp)	CDHR1 (R5W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2796135	NM_033100.4(CDHR1):c.17G>A (p.Trp6Ter)	CDHR1 (W6*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1460364	NM_033100.4(CDHR1):c.18G>A (p.Trp6Ter)	CDHR1 (W6*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2096687	NM_033100.4(CDHR1):c.21C>T (p.Ala7=)	CDHR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1951458	NM_033100.4(CDHR1):c.24C>T (p.Ala8=)	CDHR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1465268	NM_033100.4(CDHR1):c.29C>T (p.Ala10Val)	CDHR1 (A10V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1644836	NM_033100.4(CDHR1):c.30C>A (p.Ala10=)	CDHR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1954079	NM_033100.4(CDHR1):c.39G>A (p.Leu13=)	CDHR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1495777	NM_033100.4(CDHR1):c.40C>G (p.Leu14Val)	CDHR1 (L14V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2920614	NM_033100.4(CDHR1):c.41T>A (p.Leu14Gln)	CDHR1 (L14Q)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 15	GUncertain significance
Select item 880499	NM_033100.4(CDHR1):c.44G>T (p.Arg15Leu)	CDHR1 (R15L)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 15 +1 more	GConflicting classifications of pathogenicity
Select item 2068111	NM_033100.4(CDHR1):c.48C>G (p.Leu16=)	CDHR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1374420	NM_033100.4(CDHR1):c.50G>A (p.Cys17Tyr)	CDHR1 (C17Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1519078	NM_033100.4(CDHR1):c.52_53delinsGC (p.Leu18Ala)	CDHR1 (L18A)	Indel (missense variant)	not provided	GUncertain significance
Select item 866140	NM_033100.4(CDHR1):c.55+1G>A	CDHR1	Single nucleotide variant (splice donor variant)	not provided +2 more	GLikely pathogenic
Select item 1481982	NM_033100.4(CDHR1):c.55+5G>A	CDHR1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1360921	NM_033100.4(CDHR1):c.55+6T>C	CDHR1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2035096	NM_033100.4(CDHR1):c.55+9C>A	CDHR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1611059	NM_033100.4(CDHR1):c.55+14G>T	CDHR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2826153	NM_033100.4(CDHR1):c.55+16G>C	CDHR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1896209	NM_033100.4(CDHR1):c.55+17C>A	CDHR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1533465	NM_033100.4(CDHR1):c.55+19G>C	CDHR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2797860	NM_033100.4(CDHR1):c.55+20C>T	CDHR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1229421	NM_033100.4(CDHR1):c.55+46A>G	CDHR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194490	NM_033100.4(CDHR1):c.56-86C>T	CDHR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1914505	NM_033100.4(CDHR1):c.56-17C>T	CDHR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1535307	NM_033100.4(CDHR1):c.56-16T>C	CDHR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1357877	NM_033100.4(CDHR1):c.56-3C>T	CDHR1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1481629	NM_033100.4(CDHR1):c.56-1G>A	CDHR1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1391053	NM_033100.4(CDHR1):c.56C>T (p.Ala19Val)	CDHR1 (A19V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2020491	NM_033100.4(CDHR1):c.60G>A (p.Gln20=)	CDHR1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1648118	NM_033100.4(CDHR1):c.63C>A (p.Ala21=)	CDHR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2131038	NM_033100.4(CDHR1):c.74del (p.Pro25fs)	CDHR1 (P25fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 738025	NM_033100.4(CDHR1):c.75G>T (p.Pro25=)	CDHR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1942649	NM_033100.4(CDHR1):c.76C>T (p.His26Tyr)	CDHR1 (H26Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1466699	NM_033100.4(CDHR1):c.79TTC[1] (p.Phe28del)	CDHR1 (F28del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1000304	NM_033100.4(CDHR1):c.85G>A (p.Asp29Asn)	CDHR1 (D29N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1364625	NM_033100.4(CDHR1):c.94G>A (p.Val32Ile)	CDHR1 (V32I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1534766	NM_033100.4(CDHR1):c.96C>A (p.Val32=)	CDHR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2175391	NM_033100.4(CDHR1):c.106A>G (p.Asn36Asp)	CDHR1 (N36D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3141351	NM_033100.4(CDHR1):c.108C>A (p.Asn36Lys)	CDHR1 (N36K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2995787	NM_033100.4(CDHR1):c.108C>T (p.Asn36=)	CDHR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 301208	NM_033100.4(CDHR1):c.118G>A (p.Ala40Thr)	CDHR1 (A40T)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 15 +1 more	GConflicting classifications of pathogenicity
Select item 1949981	NM_033100.4(CDHR1):c.121_122del (p.Leu41fs)	CDHR1 (L41fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1580404	NM_033100.4(CDHR1):c.129C>T (p.Ser43=)	CDHR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 301209	NM_033100.4(CDHR1):c.138G>A (p.Glu46=)	CDHR1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 15	GUncertain significance
Select item 2032744	NM_033100.4(CDHR1):c.139_141del (p.Asp47del)	CDHR1 (D47del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2007543	NM_033100.4(CDHR1):c.140A>G (p.Asp47Gly)	CDHR1 (D47G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 833525	NM_033100.4(CDHR1):c.143C>A (p.Thr48Asn)	CDHR1 (T48N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2891591	NM_033100.4(CDHR1):c.144C>T (p.Thr48=)	CDHR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2034714	NM_033100.4(CDHR1):c.146C>T (p.Pro49Leu)	CDHR1 (P49L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1149417	NM_033100.4(CDHR1):c.147T>C (p.Pro49=)	CDHR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1636235	NM_033100.4(CDHR1):c.148G>A (p.Val50Ile)	CDHR1 (V50I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2016214	NM_033100.4(CDHR1):c.151+5G>A	CDHR1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 880500	NM_033100.4(CDHR1):c.151+6T>C	CDHR1	Single nucleotide variant (intron variant)	Cone-rod dystrophy 15	GUncertain significance
Select item 1528765	NM_033100.4(CDHR1):c.151+10C>G	CDHR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992309	NM_033100.4(CDHR1):c.151+15C>A	CDHR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1537493	NM_033100.4(CDHR1):c.151+17C>A	CDHR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268972	NM_033100.4(CDHR1):c.151+95C>T	CDHR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3009544	NM_033100.4(CDHR1):c.152-17A>C	CDHR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2089038	NM_033100.4(CDHR1):c.152-17A>G	CDHR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998280	NM_033100.4(CDHR1):c.152-16C>T	CDHR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 301210	NM_033100.4(CDHR1):c.152-12_152-11del	CDHR1	Microsatellite (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 301211	NM_033100.4(CDHR1):c.152-9T>C	CDHR1	Single nucleotide variant (intron variant)	Cone-rod dystrophy 15 +1 more	GConflicting classifications of pathogenicity
Select item 2049759	NM_033100.4(CDHR1):c.155C>G (p.Ser52Cys)	CDHR1 (S52C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1415065	NM_033100.4(CDHR1):c.155C>T (p.Ser52Phe)	CDHR1 (S52F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 301213	NM_033100.4(CDHR1):c.159C>T (p.His53=)	CDHR1	Single nucleotide variant (synonymous variant)	Cone-Rod Dystrophy, Recessive +1 more	GConflicting classifications of pathogenicity
Select item 301212	NM_033100.4(CDHR1):c.159C>A (p.His53Gln)	CDHR1 (H53Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1004486	NM_033100.4(CDHR1):c.160G>A (p.Val54Ile)	CDHR1 (V54I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1525134	NM_033100.4(CDHR1):c.166A>T (p.Thr56Ser)	CDHR1 (T56S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1497789	NM_033100.4(CDHR1):c.167C>A (p.Thr56Asn)	CDHR1 (T56N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1565107	NM_033100.4(CDHR1):c.168C>A (p.Thr56=)	CDHR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1536541	NM_033100.4(CDHR1):c.168C>T (p.Thr56=)	CDHR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 961162	NM_033100.4(CDHR1):c.173A>G (p.Asn58Ser)	CDHR1 (N58S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1346934	NM_033100.4(CDHR1):c.179C>A (p.Thr60Lys)	CDHR1 (T60K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1507567	NM_033100.4(CDHR1):c.181G>C (p.Asp61His)	CDHR1 (D61H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 745980	NM_033100.4(CDHR1):c.183C>T (p.Asp61=)	CDHR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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