9227[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 58045	GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3	LOC123493228, LOC123493229 +481 more	Copy number gain	See cases	GPathogenic
Select item 146396	GRCh38/hg38 4q31.3-32.1(chr4:151299810-160314050)x1	ARFIP1, ASIC5 +210 more	Copy number loss	See cases	GLikely pathogenic
Select item 155550	GRCh38/hg38 4q31.3-32.1(chr4:152500649-155788803)x3	LOC129993250, LOC129993251 +115 more	Copy number gain	See cases	GLikely pathogenic
Select item 59482	GRCh38/hg38 4q31.3-32.1(chr4:153656785-154928773)x1	DCHS2, FGA +38 more	Copy number loss	See cases	GPathogenic
Select item 3235952	GRCh38/hg38 4q31.3-32.1(chr4:153986026-156952467)	ASIC5, CTSO +45 more	Copy number loss	not provided	GUncertain significance
Select item 978446	NC_000004.12:g.(?_154740841)_(154749136_?)del	LRAT	Deletion	Leber congenital amaurosis 14	GPathogenic
Select item 902343	NM_004744.5(LRAT):c.-199G>T	LRAT	Single nucleotide variant (5 prime UTR variant +1 more)	Retinitis pigmentosa	GLikely benign
Select item 347845	NM_004744.5(LRAT):c.-115C>G	LRAT	Single nucleotide variant (5 prime UTR variant +1 more)	Leber congenital amaurosis +2 more	GUncertain significance
Select item 347846	NM_004744.5(LRAT):c.-84C>T	LRAT	Single nucleotide variant (5 prime UTR variant +1 more)	Leber congenital amaurosis 14 +2 more	GUncertain significance
Select item 903210	NM_004744.5(LRAT):c.-15C>T	LRAT	Single nucleotide variant (5 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 347847	NM_004744.5(LRAT):c.-2+7A>C	LRAT	Single nucleotide variant (intron variant)	Leber congenital amaurosis +2 more	GUncertain significance
Select item 903211	NM_004744.5(LRAT):c.-1-12T>C	LRAT	Single nucleotide variant (intron variant)	Retinitis pigmentosa	GUncertain significance
Select item 798159	NM_004744.5(LRAT):c.8A>G (p.Asn3Ser)	LRAT (N3S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2962732	NM_004744.5(LRAT):c.9C>T (p.Asn3=)	LRAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1073195	NM_004744.5(LRAT):c.12del (p.Met5fs)	LRAT (M5fs)	Deletion (frameshift variant)	Retinal dystrophy +1 more	GPathogenic
Select item 3539249	NM_004744.5(LRAT):c.11C>G (p.Pro4Arg)	LRAT (P4R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1361071	NM_004744.5(LRAT):c.11C>A (p.Pro4His)	LRAT (P4H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3249470	NM_004744.5(LRAT):c.17dup (p.Glu7fs)	LRAT (E7fs)	Duplication (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 1985380	NM_004744.5(LRAT):c.21G>A (p.Glu7=)	LRAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 955383	NM_004744.5(LRAT):c.26T>C (p.Val9Ala)	LRAT (V9A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2054951	NM_004744.5(LRAT):c.27G>A (p.Val9=)	LRAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872984	NM_004744.5(LRAT):c.31T>C (p.Leu11=)	LRAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2506311	NM_004744.5(LRAT):c.40_41delinsTT (p.Glu14Leu)	LRAT (E14L)	Indel (missense variant)	Leber congenital amaurosis	GLikely pathogenic
Select item 667379	NM_004744.5(LRAT):c.40G>T (p.Glu14Ter)	LRAT (E14*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis	GLikely pathogenic
Select item 1967105	NM_004744.5(LRAT):c.46C>A (p.Leu16Met)	LRAT (L16M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2126558	NM_004744.5(LRAT):c.49CTC[1] (p.Leu18del)	LRAT (L18del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3539250	NM_004744.5(LRAT):c.55A>G (p.Ile19Val)	LRAT (I19V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2134242	NM_004744.5(LRAT):c.66C>T (p.Phe22=)	LRAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2820891	NM_004744.5(LRAT):c.69G>A (p.Thr23=)	LRAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1149269	NM_004744.5(LRAT):c.72C>T (p.Leu24=)	LRAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 100574	NM_004744.5(LRAT):c.74T>A (p.Phe25Tyr)	LRAT (F25Y)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 14 +3 more	GBenign/Likely benign
Select item 221315	NM_004744.5(LRAT):c.78T>A (p.Ser26Arg)	LRAT (S26R)	Single nucleotide variant (missense variant)	Breast ductal adenocarcinoma	GUncertain significance
Select item 3249249	NM_004744.5(LRAT):c.80C>T (p.Ser27Leu)	LRAT (S27L)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 899603	NM_004744.5(LRAT):c.80C>G (p.Ser27Trp)	LRAT (S27W)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GUncertain significance
Select item 2849623	NM_004744.5(LRAT):c.81G>T (p.Ser27=)	LRAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1715772	NM_004744.5(LRAT):c.83G>A (p.Gly28Asp)	LRAT (G28D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1052828	NM_004744.5(LRAT):c.89C>T (p.Ala30Val)	LRAT (A30V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1913996	NM_004744.5(LRAT):c.97G>A (p.Asp33Asn)	LRAT (D33N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2759020	NM_004744.5(LRAT):c.99_100del (p.Asp33fs)	LRAT (D33fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 961046	NM_004744.5(LRAT):c.99C>A (p.Asp33Glu)	LRAT (D33E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 945311	NM_004744.5(LRAT):c.111C>G (p.Asn37Lys)	LRAT (N37K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2259329	NM_004744.5(LRAT):c.119A>C (p.Tyr40Ser)	LRAT (Y40S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1537383	NM_004744.5(LRAT):c.126C>T (p.Thr42=)	LRAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983901	NM_004744.5(LRAT):c.132T>C (p.Ser44=)	LRAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3119822	NM_004744.5(LRAT):c.137A>G (p.His46Arg)	LRAT (H46R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 970473	NM_004744.5(LRAT):c.139C>A (p.Arg47=)	LRAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 817558	NM_004744.5(LRAT):c.139C>T (p.Arg47Ter)	LRAT (R47*)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 2111050	NM_004744.5(LRAT):c.140G>T (p.Arg47Leu)	LRAT (R47L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981841	NM_004744.5(LRAT):c.144C>T (p.Gly48=)	LRAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2110534	NM_004744.5(LRAT):c.147C>G (p.Asp49Glu)	LRAT (D49E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1477077	NM_004744.5(LRAT):c.149T>C (p.Val50Ala)	LRAT (V50A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 978450	NM_004744.5(LRAT):c.149T>G (p.Val50Gly)	LRAT (V50G)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 14	GLikely pathogenic
Select item 2009937	NM_004744.5(LRAT):c.152T>C (p.Leu51Pro)	LRAT (L51P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1088581	NM_004744.5(LRAT):c.153G>A (p.Leu51=)	LRAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1180621	NM_004744.5(LRAT):c.157_159dup (p.Val53dup)	LRAT	Duplication (inframe_insertion)	Abnormality of the eye	GPathogenic
Select item 2725296	NM_004744.5(LRAT):c.159G>C (p.Val53=)	LRAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2858521	NM_004744.5(LRAT):c.163del (p.Arg55fs)	LRAT (R55fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 802096	NM_004744.5(LRAT):c.163C>G (p.Arg55Gly)	LRAT (R55G)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 143129	NM_004744.5(LRAT):c.163C>T (p.Arg55Trp)	LRAT (R55W)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1152135	NM_004744.5(LRAT):c.165G>A (p.Arg55=)	LRAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004078	NM_004744.5(LRAT):c.168C>T (p.Thr56=)	LRAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892100	NM_004744.5(LRAT):c.171C>T (p.His57=)	LRAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2914491	NM_004744.5(LRAT):c.174G>C (p.Leu58=)	LRAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2013959	NM_004744.5(LRAT):c.177C>A (p.Thr59=)	LRAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2203579	NM_004744.5(LRAT):c.181T>A (p.Tyr61Asn)	LRAT (Y61N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 957588	NM_004744.5(LRAT):c.190T>C (p.Tyr64His)	LRAT (Y64H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2910325	NM_004744.5(LRAT):c.192C>T (p.Tyr64=)	LRAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 840691	NM_004744.5(LRAT):c.197G>A (p.Gly66Glu)	LRAT (G66E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2829724	NM_004744.5(LRAT):c.198del (p.Asp67fs)	LRAT (D67fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1591662	NM_004744.5(LRAT):c.198A>C (p.Gly66=)	LRAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 347848	NM_004744.5(LRAT):c.205C>T (p.Arg69Cys)	LRAT (R69C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1533503	NM_004744.5(LRAT):c.213C>T (p.Ala71=)	LRAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 5336	NM_004744.5(LRAT):c.217_218del (p.Met73fs)	LRAT (M73fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1172716	NM_004744.5(LRAT):c.224C>T (p.Pro75Leu)	LRAT (P75L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2016534	NM_004744.5(LRAT):c.226G>A (p.Asp76Asn)	LRAT (D76N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1051547	NM_004744.5(LRAT):c.231C>G (p.Ile77Met)	LRAT (I77M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 191324	NM_004744.5(LRAT):c.233_242del (p.Leu78fs)	LRAT (L78fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3375442	NM_004744.5(LRAT):c.236T>G (p.Leu79Trp)	LRAT (L79W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1016718	NM_004744.5(LRAT):c.239C>T (p.Ala80Val)	LRAT (A80V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011476	NM_004744.5(LRAT):c.240C>T (p.Ala80=)	LRAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1643617	NM_004744.5(LRAT):c.241C>T (p.Leu81=)	LRAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 978974	NM_004744.5(LRAT):c.241_242del (p.Leu81fs)	LRAT (L81fs)	Deletion (frameshift variant)	Leber congenital amaurosis 14	GPathogenic
Select item 3027680	NM_004744.5(LRAT):c.246_249del (p.Asp83fs)	LRAT (D83fs)	Deletion (frameshift variant)	Retinal dystrophy	GUncertain significance
Select item 347849	NM_004744.5(LRAT):c.244A>G (p.Thr82Ala)	LRAT (T82A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 2842635	NM_004744.5(LRAT):c.249C>T (p.Asp83=)	LRAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2130067	NM_004744.5(LRAT):c.250G>A (p.Asp84Asn)	LRAT (D84N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 347850	NM_004744.5(LRAT):c.258G>A (p.Gly86=)	LRAT	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis +2 more	GUncertain significance
Select item 636179	NM_004744.5(LRAT):c.264_265dup (p.Gln89fs)	LRAT (Q89fs)	Duplication (frameshift variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 3291205	NM_004744.5(LRAT):c.274G>A (p.Val92Ile)	LRAT (V92I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2703215	NM_004744.5(LRAT):c.282C>T (p.Asn94=)	LRAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2106861	NM_004744.5(LRAT):c.294C>A (p.Ile98=)	LRAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2864221	NM_004744.5(LRAT):c.297G>A (p.Leu99=)	LRAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 802097	NM_004744.5(LRAT):c.298G>A (p.Gly100Ser)	LRAT (G100S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

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