ClinVar for Gene (Select 473) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 825

<< First< Prev

Page of 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369591	NM_001042681.2(RERE):c.2603C>T (p.Pro868Leu)	RERE (P314L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369073	NM_001042681.2(RERE):c.1549G>A (p.Asp517Asn)	RERE (D517N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3368850	NM_001042681.2(RERE):c.4698A>C (p.Leu1566Phe)	RERE (L1012F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368748	NM_001042681.2(RERE):c.1352G>A (p.Arg451His)	RERE (R451H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3368307	NM_001042681.2(RERE):c.2893C>T (p.Pro965Ser)	RERE (P411S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367442	NM_001042681.2(RERE):c.1787A>T (p.Asp596Val)	RERE (D42V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366358	NM_001042681.2(RERE):c.3220G>A (p.Ala1074Thr)	RERE (A1074T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3365769	NM_001042681.2(RERE):c.748T>G (p.Phe250Val)	RERE (F250V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365653	NM_001042681.2(RERE):c.4487-7T>A	RERE	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3365245	NM_001042681.2(RERE):c.3212C>G (p.Ser1071Cys)	RERE (S1071C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365000	NM_001042681.2(RERE):c.2368G>T (p.Ala790Ser)	RERE (A236S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364891	NM_001042681.2(RERE):c.3659C>T (p.Pro1220Leu)	RERE (P1220L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364701	NM_001042681.2(RERE):c.2453_2476del (p.Pro818_Pro825del)	RERE	Deletion	not provided	GUncertain significance
Select item 3364458	NM_001042681.2(RERE):c.1609A>C (p.Lys537Gln)	RERE (K537Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3364352	NM_001042681.2(RERE):c.3235_3240delinsCAT (p.Ser1079_Ile1080delinsHis)	RERE	Indel (inframe_indel)	not provided	GUncertain significance
Select item 3363547	NM_001042681.2(RERE):c.284C>T (p.Thr95Ile)	RERE (T95I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362150	NM_001042681.2(RERE):c.1324C>G (p.Pro442Ala)	RERE (P442A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3362087	NM_001042681.2(RERE):c.440T>C (p.Leu147Ser)	RERE (L147S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361796	NM_001042681.2(RERE):c.1450G>T (p.Asp484Tyr)	RERE (D484Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3361786	NM_001042681.2(RERE):c.2924T>A (p.Leu975Gln)	RERE (L421Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361546	NM_001042681.2(RERE):c.4511C>T (p.Pro1504Leu)	RERE (P1504L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360620	NM_001042681.2(RERE):c.2369C>G (p.Ala790Gly)	RERE (A236G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358069	NM_001042681.2(RERE):c.2717C>T (p.Ala906Val)	RERE (A352V +1 more)	Single nucleotide variant (missense variant)	RERE-related disorder	GUncertain significance
Select item 3350411	NM_001042681.2(RERE):c.3140T>A (p.Ile1047Asn)	RERE (I1047N +1 more)	Single nucleotide variant (missense variant)	RERE-related disorder	GLikely benign
Select item 3349462	NM_001042681.2(RERE):c.1162del (p.Val388fs)	RERE (V388fs)	Deletion (frameshift variant)	RERE-related disorder	GUncertain significance
Select item 3348407	NM_001042681.2(RERE):c.2612C>T (p.Pro871Leu)	RERE (P317L +1 more)	Single nucleotide variant (missense variant)	RERE-related disorder	GUncertain significance
Select item 3347148	NM_001042681.2(RERE):c.4560G>C (p.Met1520Ile)	RERE (M1520I +1 more)	Single nucleotide variant (missense variant)	RERE-related disorder	GUncertain significance
Select item 3346779	NM_001042681.2(RERE):c.2754_2767del (p.Pro919fs)	RERE (P365fs +1 more)	Deletion (frameshift variant)	RERE-related disorder	GLikely pathogenic
Select item 3345947	NM_001042681.2(RERE):c.3245G>T (p.Gly1082Val)	RERE (G1082V +1 more)	Single nucleotide variant (missense variant)	RERE-related disorder	GUncertain significance
Select item 3345858	NM_001042681.2(RERE):c.2683C>T (p.His895Tyr)	RERE (H341Y +1 more)	Single nucleotide variant (missense variant)	RERE-related disorder	GUncertain significance
Select item 3343766	NM_001042681.2(RERE):c.821C>A (p.Pro274His)	RERE (P274H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343514	NM_001042681.2(RERE):c.3135_3149del (p.Pro1046_Pro1050del)	RERE	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3343497	NM_001042681.2(RERE):c.3943_3945delinsTGG (p.Arg1315Trp)	RERE (R1315W +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 3342350	NM_001042681.2(RERE):c.61C>T (p.Arg21Ter)	RERE (R21*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3340805	NM_001042681.2(RERE):c.4456G>A (p.Glu1486Lys)	RERE (E932K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3313652	NM_001042681.2(RERE):c.3599G>T (p.Arg1200Leu)	RERE (R1200L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313651	NM_001042681.2(RERE):c.2092A>G (p.Ser698Gly)	RERE (S144G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313650	NM_001042681.2(RERE):c.3092A>G (p.Gln1031Arg)	RERE (Q477R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313649	NM_001042681.2(RERE):c.3530A>C (p.Lys1177Thr)	RERE (K623T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313648	NM_001042681.2(RERE):c.2368G>A (p.Ala790Thr)	RERE (A236T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313647	NM_001042681.2(RERE):c.3134C>A (p.Pro1045His)	RERE (P491H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313646	NM_001042681.2(RERE):c.3176C>T (p.Pro1059Leu)	RERE (P1059L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313644	NM_001042681.2(RERE):c.3358G>C (p.Val1120Leu)	RERE (V1120L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3313643	NM_001042681.2(RERE):c.2306C>G (p.Ser769Cys)	RERE (S769C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313642	NM_001042681.2(RERE):c.3950G>C (p.Arg1317Pro)	RERE (R763P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313641	NM_001042681.2(RERE):c.705_708del (p.Tyr236fs)	RERE (Y236fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 3313640	NM_001042681.2(RERE):c.1273A>G (p.Asn425Asp)	RERE (N425D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3313639	NM_001042681.2(RERE):c.38A>G (p.Lys13Arg)	RERE (K13R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313638	NM_001042681.2(RERE):c.1943A>G (p.Lys648Arg)	RERE (K94R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313636	NM_001042681.2(RERE):c.2363C>T (p.Pro788Leu)	RERE (P788L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313635	NM_001042681.2(RERE):c.2855C>T (p.Ser952Leu)	RERE (S398L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3313634	NM_001042681.2(RERE):c.1400C>T (p.Ala467Val)	RERE (A467V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3257673	NM_001042681.2(RERE):c.2085T>C (p.Asp695=)	RERE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3255047	NM_001042681.2(RERE):c.3684dup (p.Arg1229fs)	RERE (R1229fs +1 more)	Duplication (frameshift variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GPathogenic
Select item 3254893	NM_001042681.2(RERE):c.726-2A>G	RERE	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GLikely pathogenic
Select item 3254889	NM_001042681.2(RERE):c.4220C>G (p.Ala1407Gly)	RERE (A1407G +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GUncertain significance
Select item 3254888	NM_001042681.2(RERE):c.3867G>T (p.Met1289Ile)	RERE (M1289I +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	GLikely benign
Select item 3252489	NM_001042681.2(RERE):c.3506A>G (p.Lys1169Arg)	RERE (K1169R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251441	NM_001042681.2(RERE):c.254G>A (p.Arg85His)	RERE (R85H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251342	NM_001042681.2(RERE):c.3624G>A (p.Ala1208=)	RERE	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3250579	NM_001042681.2(RERE):c.3045G>C (p.Pro1015=)	RERE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3247965	NC_000001.10:g.(?_5923325)_(12071622_?)del	DNAJC11, DRAXIN +76 more	Deletion	not provided	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
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)	Inborn genetic diseases	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	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

<< First< Prev

Page of 9