145226[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 313832	NM_152443.3(RDH12):c.-275+12C>T	GPHN, RDH12	Single nucleotide variant (intron variant)	Retinitis pigmentosa +1 more	GBenign/Likely benign
Select item 438252	Single allele	GPHN, RDH12 +1 more	Deletion	Retinal dystrophy	GLikely pathogenic
Select item 313833	NM_152443.3(RDH12):c.-253G>A	RDH12, GPHN	Single nucleotide variant (5 prime UTR variant)	Retinitis Pigmentosa, Recessive +1 more	GUncertain significance
Select item 313834	NM_152443.3(RDH12):c.-248C>G	GPHN, RDH12	Single nucleotide variant (5 prime UTR variant)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 1231282	NM_152443.3(RDH12):c.-219-218A>G	GPHN, RDH12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 313835	NM_152443.3(RDH12):c.-152A>G	GPHN, RDH12	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa +1 more	GBenign/Likely benign
Select item 884100	NM_152443.3(RDH12):c.-123C>T	GPHN, RDH12	Single nucleotide variant (5 prime UTR variant)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 313836	NM_152443.3(RDH12):c.-121G>A	GPHN, RDH12	Single nucleotide variant (5 prime UTR variant)	Retinitis Pigmentosa, Recessive +1 more	GUncertain significance
Select item 884101	NM_152443.3(RDH12):c.-114G>A	GPHN, RDH12	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 1710126	NM_152443.3(RDH12):c.1A>G (p.Met1Val)	GPHN, RDH12 (M1V)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 13	GUncertain significance
Select item 2577490	NM_152443.3(RDH12):c.2T>C (p.Met1Thr)	GPHN, RDH12 (M1T)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis	GUncertain significance
Select item 2783364	NM_152443.3(RDH12):c.6G>A (p.Leu2=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2002986	NM_152443.3(RDH12):c.6G>C (p.Leu2=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2849409	NM_152443.3(RDH12):c.9C>T (p.Val3=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2854874	NM_152443.3(RDH12):c.15_29dup (p.Ser10_Phe11insGlyLeuLeuThrSer)	GPHN, RDH12	Duplication (inframe_insertion)	Leber congenital amaurosis 13	GUncertain significance
Select item 1157413	NM_152443.3(RDH12):c.18A>G (p.Gly6=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 3012988	NM_152443.3(RDH12):c.19C>T (p.Leu7=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2116438	NM_152443.3(RDH12):c.21G>A (p.Leu7=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2103547	NM_152443.3(RDH12):c.24C>T (p.Leu8=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 1989052	NM_152443.3(RDH12):c.26C>T (p.Thr9Ile)	RDH12, GPHN (T9I)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 1426716	NM_152443.3(RDH12):c.26C>A (p.Thr9Asn)	GPHN, RDH12 (T9N)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 1046740	NM_152443.3(RDH12):c.26CCT[1] (p.Ser10del)	GPHN, RDH12 (S10del)	Microsatellite (inframe_deletion)	Leber congenital amaurosis 13	GUncertain significance
Select item 1569257	NM_152443.3(RDH12):c.27C>A (p.Thr9=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 1461518	NM_152443.3(RDH12):c.32TCT[1] (p.Phe12del)	GPHN, RDH12 (F12del)	Microsatellite (inframe_deletion)	Leber congenital amaurosis 13	GUncertain significance
Select item 1089248	NM_152443.3(RDH12):c.30C>T (p.Ser10=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 1955767	NM_152443.3(RDH12):c.32T>C (p.Phe11Ser)	GPHN, RDH12 (F11S)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 977812	NM_152443.3(RDH12):c.38C>A (p.Ser13Ter)	GPHN, RDH12 (S13*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 13	GPathogenic
Select item 1622782	NM_152443.3(RDH12):c.39G>T (p.Ser13=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 1115189	NM_152443.3(RDH12):c.39G>C (p.Ser13=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 771261	NM_152443.3(RDH12):c.39G>A (p.Ser13=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 1674782	NM_152443.3(RDH12):c.42C>T (p.Phe14=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 1454036	NM_152443.3(RDH12):c.43del (p.Leu15fs)	GPHN, RDH12 (L15fs)	Deletion (frameshift variant)	Leber congenital amaurosis 13	GPathogenic
Select item 2837851	NM_152443.3(RDH12):c.43C>T (p.Leu15=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2123014	NM_152443.3(RDH12):c.44T>G (p.Leu15Arg)	GPHN, RDH12 (L15R)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 2678301	NM_152443.3(RDH12):c.51_52dup (p.Val18fs)	GPHN, RDH12 (V18fs)	Duplication (frameshift variant)	Leber congenital amaurosis 13	GLikely pathogenic
Select item 1451652	NM_152443.3(RDH12):c.52del (p.Met17_Val18insTer)	GPHN, RDH12	Deletion (nonsense)	Leber congenital amaurosis 13	GPathogenic
Select item 2558919	NM_152443.3(RDH12):c.55G>A (p.Ala19Thr)	GPHN, RDH12 (A19T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2147313	NM_152443.3(RDH12):c.56C>T (p.Ala19Val)	GPHN, RDH12 (A19V)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 2038695	NM_152443.3(RDH12):c.57T>C (p.Ala19=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 203385	NM_152443.3(RDH12):c.63_66del (p.Ile22fs)	GPHN, RDH12 (I22fs)	Microsatellite (frameshift variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 2160507	NM_152443.3(RDH12):c.58C>T (p.Pro20Ser)	GPHN, RDH12 (P20S)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 3028279	NM_152443.3(RDH12):c.59C>T (p.Pro20Leu)	GPHN, RDH12 (P20L)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 793270	NM_152443.3(RDH12):c.60A>G (p.Pro20=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 1116038	NM_152443.3(RDH12):c.63C>T (p.Ser21=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2011092	NM_152443.3(RDH12):c.66C>A (p.Ile22=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 1419341	NM_152443.3(RDH12):c.68+1G>A	GPHN, RDH12	Single nucleotide variant (splice donor variant)	Leber congenital amaurosis +1 more	GPathogenic
Select item 1448505	NM_152443.3(RDH12):c.68+5G>A	GPHN, RDH12	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 2076398	NM_152443.3(RDH12):c.68+6T>A	RDH12, GPHN	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 1308595	NM_152443.3(RDH12):c.68+6T>C	GPHN, RDH12	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 2743595	NM_152443.3(RDH12):c.68+8T>C	GPHN, RDH12	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2847098	NM_152443.3(RDH12):c.68+12T>C	GPHN, RDH12	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2854517	NM_152443.3(RDH12):c.68+16G>A	GPHN, RDH12	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 1663019	NM_152443.3(RDH12):c.68+17C>A	GPHN, RDH12	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2717819	NM_152443.3(RDH12):c.68+19A>G	GPHN, RDH12	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 1275398	NM_152443.3(RDH12):c.68+192A>C	GPHN, RDH12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278357	NM_152443.3(RDH12):c.68+208T>G	GPHN, RDH12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259103	NM_152443.3(RDH12):c.69-311G>A	GPHN, RDH12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242011	NM_152443.3(RDH12):c.69-181C>T	GPHN, RDH12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288856	NM_152443.3(RDH12):c.69-66_69-64del	GPHN, RDH12	Deletion (intron variant)	not provided	GBenign
Select item 1275587	NM_152443.3(RDH12):c.69-65_69-64del	GPHN, RDH12	Deletion (intron variant)	not provided	GBenign
Select item 1222809	NM_152443.3(RDH12):c.69-75T>G	GPHN, RDH12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2740003	NM_152443.3(RDH12):c.69-19_69-18del	GPHN, RDH12	Deletion (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 1598042	NM_152443.3(RDH12):c.69-19T>C	GPHN, RDH12	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2742597	NM_152443.3(RDH12):c.69-18T>C	GPHN, RDH12	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2755988	NM_152443.3(RDH12):c.69-17G>C	GPHN, RDH12	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2057565	NM_152443.3(RDH12):c.69-16T>C	GPHN, RDH12	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 1573927	NM_152443.3(RDH12):c.69-16T>G	GPHN, RDH12	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2698438	NM_152443.3(RDH12):c.69-9T>C	GPHN, RDH12	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 1156295	NM_152443.3(RDH12):c.69-6C>T	GPHN, RDH12	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2008299	NM_152443.3(RDH12):c.69-5G>C	GPHN, RDH12	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GLikely benign
Select item 1108992	NM_152443.3(RDH12):c.69-5G>A	GPHN, RDH12	Single nucleotide variant (intron variant)	RDH12-related disorder +1 more	GLikely benign
Select item 968874	NM_152443.3(RDH12):c.69-3T>C	RDH12, GPHN	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 2678303	NM_152443.3(RDH12):c.69del	RDH12, GPHN	Deletion (genic downstream transcript variant)	Leber congenital amaurosis 13	GLikely pathogenic
Select item 1501090	NM_152443.3(RDH12):c.69-1G>A	GPHN, RDH12	Single nucleotide variant (splice acceptor variant)	Leber congenital amaurosis 13	GLikely pathogenic
Select item 2570884	NM_152443.3(RDH12):c.72G>C (p.Lys24Asn)	GPHN, RDH12 (K24N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1157742	NM_152443.3(RDH12):c.81T>G (p.Ala27=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 866752	NM_152443.3(RDH12):c.85G>A (p.Gly29Arg)	GPHN, RDH12 (G29R)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13 +2 more	GUncertain significance
Select item 2829341	NM_152443.3(RDH12):c.90G>A (p.Val30=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 1209662	NM_152443.3(RDH12):c.92G>A (p.Cys31Tyr)	GPHN, RDH12 (C31Y)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 2911777	NM_152443.3(RDH12):c.98C>T (p.Thr33Ile)	RDH12, GPHN (T33I)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 2743303	NM_152443.3(RDH12):c.98del (p.Thr33fs)	GPHN, RDH12 (T33fs)	Deletion (frameshift variant)	Leber congenital amaurosis 13	GPathogenic
Select item 2644335	NM_152443.3(RDH12):c.100A>C (p.Asn34His)	GPHN, RDH12 (N34H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2907059	NM_152443.3(RDH12):c.102T>C (p.Asn34=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 1922079	NM_152443.3(RDH12):c.103G>C (p.Val35Leu)	GPHN, RDH12 (V35L)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 2978945	NM_152443.3(RDH12):c.106C>T (p.Gln36Ter)	GPHN, RDH12 (Q36*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 13	GPathogenic
Select item 1497618	NM_152443.3(RDH12):c.108G>C (p.Gln36His)	GPHN, RDH12 (Q36H)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 2157670	NM_152443.3(RDH12):c.112C>T (p.Pro38Ser)	GPHN, RDH12 (P38S)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 3010926	NM_152443.3(RDH12):c.114T>C (p.Pro38=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 1133907	NM_152443.3(RDH12):c.117C>A (p.Gly39=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 1990567	NM_152443.3(RDH12):c.123A>T (p.Val41=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 803033	NM_152443.3(RDH12):c.125T>C (p.Val42Ala)	RDH12, GPHN (V42A)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GLikely pathogenic
Select item 2909666	NM_152443.3(RDH12):c.126G>A (p.Val42=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 1515987	NM_152443.3(RDH12):c.133A>G (p.Thr45Ala)	GPHN, RDH12 (T45A)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GPathogenic/Likely pathogenic
Select item 1978029	NM_152443.3(RDH12):c.135T>C (p.Thr45=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 712780	NM_152443.3(RDH12):c.138C>T (p.Gly46=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13 +1 more	GConflicting classifications of pathogenicity
Select item 852972	NM_152443.3(RDH12):c.139G>A (p.Ala47Thr)	GPHN, RDH12 (A47T)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13 +1 more	GPathogenic/Likely pathogenic
Select item 2833365	NM_152443.3(RDH12):c.141C>T (p.Ala47=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 1110416	NM_152443.3(RDH12):c.141C>A (p.Ala47=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign

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