ClinVar for Gene (Select 473) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3239482	NM_001042681.2(RERE):c.1040G>A (p.Gly347Asp)	RERE (G347D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3239481	NM_001042681.2(RERE):c.4159C>T (p.Arg1387Trp)	RERE (R1387W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3239434	NM_001042681.2(RERE):c.2832C>A (p.Ala944=)	RERE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3236006	NM_001042681.2(RERE):c.1104+1G>C	RERE	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 3234662	NM_001042681.2(RERE):c.3192C>T (p.Thr1064=)	RERE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234606	NM_001042681.2(RERE):c.3943C>T (p.Arg1315Ter)	RERE (R1315* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3153021	NM_001042681.2(RERE):c.4486+1G>A	RERE	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GUncertain significance
Select item 3153020	NM_001042681.2(RERE):c.4430A>G (p.Asn1477Ser)	RERE (N1477S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3153019	NM_001042681.2(RERE):c.4136T>C (p.Leu1379Pro)	RERE (L825P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153018	NM_001042681.2(RERE):c.3910C>A (p.Leu1304Ile)	RERE (L1304I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153016	NM_001042681.2(RERE):c.3536G>A (p.Arg1179Gln)	RERE (R1179Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153015	NM_001042681.2(RERE):c.3368C>A (p.Thr1123Asn)	RERE (T1123N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153014	NM_001042681.2(RERE):c.3111C>G (p.His1037Gln)	RERE (H1037Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153013	NM_001042681.2(RERE):c.2952C>A (p.His984Gln)	RERE (H430Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153012	NM_001042681.2(RERE):c.2942C>T (p.Pro981Leu)	RERE (P981L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153011	NM_001042681.2(RERE):c.2605C>T (p.Pro869Ser)	RERE (P315S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153010	NM_001042681.2(RERE):c.239C>T (p.Pro80Leu)	RERE (P80L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3069191	NM_001042681.2(RERE):c.621del (p.Asn207fs)	RERE (N207fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GLikely pathogenic
Select item 3069071	NM_001042681.2(RERE):c.3270C>G (p.Thr1090=)	RERE	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3064772	NM_001042681.2(RERE):c.831-3dup	RERE	Duplication (intron variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 3063399	GRCh37/hg19 1p36.31-36.21(chr1:6330828-12910774)x1	AADACL3, AADACL4 +80 more	Copy number loss	not specified	GPathogenic
Select item 3063310	GRCh37/hg19 1p36.23(chr1:8403000-8480452)x3	RERE, SLC45A1	Copy number gain	not specified	GUncertain significance
Select item 3063233	GRCh37/hg19 1p36.33-36.23(chr1:849466-8966102)x1	RNF207, RNF223 +108 more	Copy number loss	not specified	GPathogenic
Select item 3061466	NM_001042681.2(RERE):c.1410C>T (p.Pro470=)	RERE	Single nucleotide variant (synonymous variant +1 more)	RERE-related disorder	GLikely benign
Select item 3057888	NM_001042681.2(RERE):c.1272C>T (p.Pro424=)	RERE	Single nucleotide variant (synonymous variant +1 more)	RERE-related disorder	GLikely benign
Select item 3057887	NM_001042681.2(RERE):c.3242C>T (p.Ala1081Val)	RERE (A1081V +1 more)	Single nucleotide variant (missense variant)	RERE-related disorder	GLikely benign
Select item 3057653	NM_001042681.2(RERE):c.3471C>T (p.Ser1157=)	RERE	Single nucleotide variant (synonymous variant)	RERE-related disorder	GLikely benign
Select item 3054965	NM_001042681.2(RERE):c.2793G>A (p.Pro931=)	RERE	Single nucleotide variant (synonymous variant)	RERE-related disorder	GLikely benign
Select item 3054674	NM_001042681.2(RERE):c.1348C>T (p.His450Tyr)	RERE (H450Y)	Single nucleotide variant (missense variant +1 more)	RERE-related disorder	GLikely benign
Select item 3048623	NM_001042681.2(RERE):c.3095C>T (p.Pro1032Leu)	RERE (P1032L +1 more)	Single nucleotide variant (missense variant)	RERE-related disorder	GUncertain significance
Select item 3046890	NM_001042681.2(RERE):c.2935C>G (p.His979Asp)	RERE (H425D +1 more)	Single nucleotide variant (missense variant)	RERE-related disorder	GUncertain significance
Select item 3034956	NM_001042681.2(RERE):c.1479C>T (p.Phe493=)	RERE	Single nucleotide variant (synonymous variant +1 more)	RERE-related disorder	GLikely benign
Select item 3033834	NM_001042681.2(RERE):c.3270C>T (p.Thr1090=)	RERE	Single nucleotide variant (synonymous variant)	RERE-related disorder	GLikely benign
Select item 3033629	NM_001042681.2(RERE):c.3195G>A (p.Ser1065=)	RERE	Single nucleotide variant (synonymous variant)	RERE-related disorder	GLikely benign
Select item 3033372	NM_001042681.2(RERE):c.3800C>T (p.Pro1267Leu)	RERE (P1267L +1 more)	Single nucleotide variant (missense variant)	RERE-related disorder	GUncertain significance
Select item 3031280	NM_001042681.2(RERE):c.3143C>T (p.Thr1048Ile)	RERE (T1048I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3029935	NM_001042681.2(RERE):c.4489A>C (p.Thr1497Pro)	RERE (T1497P +1 more)	Single nucleotide variant (missense variant)	RERE-related disorder	GUncertain significance
Select item 3026201	NM_001042681.2(RERE):c.2970C>G (p.Leu990=)	RERE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025882	NM_001042681.2(RERE):c.3064C>T (p.Pro1022Ser)	RERE (P1022S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3025845	NM_001042681.2(RERE):c.3950G>A (p.Arg1317Gln)	RERE (R1317Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025620	NM_001042681.2(RERE):c.3921G>T (p.Arg1307=)	RERE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025377	NM_001042681.2(RERE):c.2496G>A (p.Ser832=)	RERE	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3025311	NM_001042681.2(RERE):c.2424C>A (p.Pro808=)	RERE	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3025215	NM_001042681.2(RERE):c.3099G>A (p.Pro1033=)	RERE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024842	NM_001042681.2(RERE):c.4485C>T (p.Phe1495=)	RERE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022368	NM_001042681.2(RERE):c.1541-17C>G	RERE	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3020113	NM_001042681.2(RERE):c.3556AAGGAG[1] (p.1186KE[1])	RERE	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3015325	NM_001042681.2(RERE):c.1775C>T (p.Pro592Leu)	RERE (P38L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009394	NM_001042681.2(RERE):c.3546_3575dup (p.Glu1195_Arg1196insLysGluLysGluLysGluArgGluArgGlu)	RERE	Duplication (inframe_insertion)	not provided	GLikely benign
Select item 3001390	NM_001042681.2(RERE):c.1740+18A>G	RERE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992080	NM_001042681.2(RERE):c.1819C>T (p.Arg607Cys)	RERE (R53C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991891	NM_001042681.2(RERE):c.4623C>T (p.Pro1541=)	RERE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981965	NM_001042681.2(RERE):c.3881A>G (p.Asn1294Ser)	RERE (N740S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2977130	NM_001042681.2(RERE):c.4074C>T (p.Thr1358=)	RERE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976796	NM_001042681.2(RERE):c.3765T>A (p.Thr1255=)	RERE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975486	NM_001042681.2(RERE):c.4149C>T (p.Gly1383=)	RERE	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2974344	NM_001042681.2(RERE):c.1951C>T (p.Arg651Trp)	RERE (R651W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972741	NM_001042681.2(RERE):c.416G>A (p.Cys139Tyr)	RERE (C139Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972322	NM_001042681.2(RERE):c.1251A>G (p.Arg417=)	RERE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2971021	NM_001042681.2(RERE):c.4419C>T (p.Gly1473=)	RERE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970289	NM_001042681.2(RERE):c.4247G>A (p.Arg1416Gln)	RERE (R1416Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2966364	NM_001042681.2(RERE):c.1004+17C>A	RERE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965841	NM_001042681.2(RERE):c.4160G>A (p.Arg1387Gln)	RERE (R1387Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2962799	NM_001042681.2(RERE):c.4074C>G (p.Thr1358=)	RERE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962568	NM_001042681.2(RERE):c.182A>G (p.Asn61Ser)	RERE (N61S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960361	NM_001042681.2(RERE):c.3618+16G>A	RERE	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2960175	NM_001042681.2(RERE):c.4467G>A (p.Met1489Ile)	RERE (M1489I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960117	NM_001042681.2(RERE):c.1741-15G>A	RERE	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2956903	NM_001042681.2(RERE):c.3562_3564dup (p.Lys1188_Glu1189insLys)	RERE	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2956399	NM_001042681.2(RERE):c.3551G>A (p.Arg1184Gln)	RERE (R630Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2920400	NM_001042681.2(RERE):c.4206C>T (p.His1402=)	RERE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2909716	NM_001042681.2(RERE):c.3879C>T (p.Tyr1293=)	RERE	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2906447	NM_001042681.2(RERE):c.1371C>T (p.Ala457=)	RERE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2905471	NM_001042681.2(RERE):c.1005-9C>T	RERE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2903034	NM_001042681.2(RERE):c.1378A>C (p.Arg460=)	RERE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2899713	NM_001042681.2(RERE):c.3883G>A (p.Val1295Ile)	RERE (V741I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2891618	NM_001042681.2(RERE):c.1009A>G (p.Met337Val)	RERE (M337V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2888126	NM_001042681.2(RERE):c.4487-5G>A	RERE	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2886115	NM_001042681.2(RERE):c.1233C>T (p.Tyr411=)	RERE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2876178	NM_001042681.2(RERE):c.1110T>C (p.His370=)	RERE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874319	NM_001042681.2(RERE):c.879+17T>C	RERE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868713	NM_001042681.2(RERE):c.1753C>T (p.Arg585Cys)	RERE (R31C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868521	NM_001042681.2(RERE):c.88A>C (p.Arg30=)	RERE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868169	NM_001042681.2(RERE):c.3473A>C (p.Lys1158Thr)	RERE (K604T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867381	NM_001042681.2(RERE):c.4575C>T (p.Ala1525=)	RERE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2854875	NM_001042681.2(RERE):c.1173C>T (p.Leu391=)	RERE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2814215	NM_001042681.2(RERE):c.1793G>A (p.Arg598His)	RERE (R44H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2803228	NM_001042681.2(RERE):c.986T>C (p.Met329Thr)	RERE (M329T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2802772	NM_001042681.2(RERE):c.848del (p.Gln283fs)	RERE (Q283fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2802643	NM_001042681.2(RERE):c.4326C>T (p.Asp1442=)	RERE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2795027	NM_001042681.2(RERE):c.30C>T (p.Asp10=)	RERE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2792288	NM_001042681.2(RERE):c.880-18C>T	RERE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2787039	NM_001042681.2(RERE):c.326-5T>C	RERE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2786694	NM_001042681.2(RERE):c.4339+16T>C	RERE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2747335	NM_001042681.2(RERE):c.4136_4153del (p.Leu1379_Pro1384del)	RERE	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2726862	NM_001042681.2(RERE):c.201C>T (p.Thr67=)	RERE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2718895	NM_001042681.2(RERE):c.3556AAGGAG[5] (p.Glu1191_Arg1192insLysGluLysGlu)	RERE	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2718881	NM_001042681.2(RERE):c.4081C>T (p.Pro1361Ser)	RERE (P807S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2716590	NM_001042681.2(RERE):c.3610C>T (p.Arg1204Trp)	RERE (R1204W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2709404	NM_001042681.2(RERE):c.4532T>C (p.Met1511Thr)	RERE (M957T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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