"Illumina Laboratory Services, Illumina"[submitter] AND "RIMS1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 357821	NM_014989.7(RIMS1):c.-302C>T	LOC129996707, RIMS1	Single nucleotide variant (5 prime UTR variant)	Cone-rod dystrophy 7	GBenign
Select item 357822	NM_014989.7(RIMS1):c.-249C>G	LOC129996707, RIMS1	Single nucleotide variant (5 prime UTR variant)	Cone-rod dystrophy 7	GUncertain significance
Select item 357823	NM_014989.7(RIMS1):c.-182_-180dup	RIMS1	Duplication (5 prime UTR variant)	Cone-Rod Dystrophy, Dominant	GLikely benign
Select item 357824	NM_014989.7(RIMS1):c.-181G>A	RIMS1	Single nucleotide variant (5 prime UTR variant)	Cone-rod dystrophy 7	GUncertain significance
Select item 357825	NM_014989.7(RIMS1):c.-140T>C	RIMS1	Single nucleotide variant (5 prime UTR variant)	Cone-rod dystrophy 7	GBenign
Select item 357826	NM_014989.7(RIMS1):c.-127G>A	RIMS1	Single nucleotide variant (5 prime UTR variant)	Cone-rod dystrophy 7	GUncertain significance
Select item 912252	NM_014989.7(RIMS1):c.-121C>T	RIMS1	Single nucleotide variant (5 prime UTR variant)	Cone-rod dystrophy 7	GUncertain significance
Select item 357827	NM_014989.7(RIMS1):c.-13G>T	LOC129996708, RIMS1	Single nucleotide variant (5 prime UTR variant)	Cone-rod dystrophy 7	GUncertain significance
Select item 357828	NM_014989.7(RIMS1):c.28C>T (p.Pro10Ser)	RIMS1 (P10S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 912253	NM_014989.7(RIMS1):c.29C>G (p.Pro10Arg)	RIMS1 (P10R)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 7 +1 more	GUncertain significance
Select item 912254	NM_014989.7(RIMS1):c.39C>G (p.Pro13=)	RIMS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 357829	NM_014989.7(RIMS1):c.165-5C>G	RIMS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 497703	NM_014989.7(RIMS1):c.169G>C (p.Val57Leu)	RIMS1 (V57L)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 908248	NM_014989.7(RIMS1):c.423G>A (p.Ala141=)	RIMS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 357830	NM_014989.7(RIMS1):c.438C>T (p.Arg146=)	RIMS1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 7 +1 more	GBenign
Select item 908249	NM_014989.7(RIMS1):c.458A>C (p.Asn153Thr)	RIMS1 (N126T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 908250	NM_014989.7(RIMS1):c.459C>T (p.Asn153=)	RIMS1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 7 +1 more	GUncertain significance
Select item 908251	NM_014989.7(RIMS1):c.459+12A>G	RIMS1	Single nucleotide variant (intron variant)	Cone-rod dystrophy 7 +1 more	GBenign
Select item 357831	NM_014989.7(RIMS1):c.594A>G (p.Thr198=)	RIMS1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 7 +1 more	GBenign
Select item 260499	NM_014989.7(RIMS1):c.648G>A (p.Ser216=)	RIMS1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 7 +2 more	GBenign
Select item 260500	NM_014989.7(RIMS1):c.666A>G (p.Leu222=)	RIMS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 357832	NM_014989.7(RIMS1):c.672A>G (p.Thr224=)	RIMS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 260501	NM_014989.7(RIMS1):c.743C>T (p.Ser248Leu)	RIMS1 (S248L)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 740717	NM_014989.7(RIMS1):c.798A>G (p.Glu266=)	RIMS1	Single nucleotide variant (synonymous variant)	RIMS1-related condition +2 more	GLikely benign
Select item 357833	NM_014989.7(RIMS1):c.813-14T>G	RIMS1	Single nucleotide variant (intron variant)	Cone-rod dystrophy 7 +1 more	GBenign
Select item 862711	NM_014989.7(RIMS1):c.826G>A (p.Gly276Arg)	RIMS1 (G276R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 357834	NM_014989.7(RIMS1):c.913G>C (p.Val305Leu)	RIMS1 (V305L)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 7	GUncertain significance
Select item 838989	NM_014989.7(RIMS1):c.928C>T (p.Arg310Cys)	RIMS1 (R310C)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 357835	NM_014989.7(RIMS1):c.928C>G (p.Arg310Gly)	RIMS1 (R310G)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 7 +1 more	GUncertain significance
Select item 357836	NM_014989.7(RIMS1):c.942G>A (p.Arg314=)	RIMS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 911090	NM_014989.7(RIMS1):c.954G>C (p.Arg318Ser)	RIMS1 (R318S)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 7	GUncertain significance
Select item 95655	NM_014989.7(RIMS1):c.1083A>G (p.Leu361=)	RIMS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 851145	NM_014989.7(RIMS1):c.1088G>T (p.Arg363Leu)	RIMS1 (R363L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 95656	NM_014989.7(RIMS1):c.1209G>A (p.Ala403=)	RIMS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 911091	NM_014989.7(RIMS1):c.1297A>G (p.Thr433Ala)	RIMS1 (T433A)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 7 +1 more	GUncertain significance
Select item 357837	NM_014989.7(RIMS1):c.1311G>A (p.Arg437=)	RIMS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 911297	NM_014989.7(RIMS1):c.1364G>A (p.Gly455Glu)	RIMS1 (G455E)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 7	GUncertain significance
Select item 357838	NM_014989.7(RIMS1):c.1382C>T (p.Ala461Val)	RIMS1 (A461V)	Single nucleotide variant (missense variant)	Cone-Rod Dystrophy, Dominant +2 more	GUncertain significance
Select item 357839	NM_014989.7(RIMS1):c.1384C>A (p.Pro462Thr)	RIMS1 (P462T)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 7 +1 more	GConflicting classifications of pathogenicity
Select item 911298	NM_014989.7(RIMS1):c.1386G>A (p.Pro462=)	RIMS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 357840	NM_014989.7(RIMS1):c.1459G>A (p.Ala487Thr)	RIMS1 (A487T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 357841	NM_014989.7(RIMS1):c.1556C>T (p.Ser519Phe)	RIMS1 (S519F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 357842	NM_014989.7(RIMS1):c.1704T>C (p.Asp568=)	RIMS1	Single nucleotide variant (synonymous variant +1 more)	Cone-rod dystrophy 7	GUncertain significance
Select item 911299	NM_014989.7(RIMS1):c.1758G>A (p.Thr586=)	RIMS1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 260494	NM_014989.7(RIMS1):c.1776G>A (p.Glu592=)	RIMS1	Single nucleotide variant (synonymous variant +1 more)	Cone-rod dystrophy 7 +2 more	GBenign
Select item 908313	NM_014989.7(RIMS1):c.1957+10C>A	RIMS1	Single nucleotide variant (intron variant)	Cone-rod dystrophy 7 +1 more	GConflicting classifications of pathogenicity
Select item 357843	NM_014989.7(RIMS1):c.2241T>C (p.Ser747=)	RIMS1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 7 +2 more	GConflicting classifications of pathogenicity
Select item 908314	NM_014989.7(RIMS1):c.2241+14G>A	RIMS1	Single nucleotide variant (intron variant)	Cone-rod dystrophy 7	GUncertain significance
Select item 908315	NM_014989.7(RIMS1):c.2242-12C>T	RIMS1	Single nucleotide variant (intron variant)	Cone-rod dystrophy 7 +1 more	GBenign
Select item 357844	NM_014989.7(RIMS1):c.2294A>G (p.Gln765Arg)	RIMS1 (Q765R +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 357845	NM_014989.7(RIMS1):c.2367T>C (p.Asp789=)	RIMS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 357846	NM_014989.7(RIMS1):c.2523A>G (p.Glu841=)	RIMS1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 7 +1 more	GBenign/Likely benign
Select item 908316	NM_014989.7(RIMS1):c.2545-4T>C	RIMS1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 357847	NM_014989.7(RIMS1):c.2670T>C (p.His890=)	RIMS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 194658	NM_014989.7(RIMS1):c.2699-8T>C	RIMS1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 909158	NM_014989.7(RIMS1):c.2787T>G (p.Ser929Arg)	RIMS1 (S402R +8 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 7	GUncertain significance
Select item 357848	NM_014989.7(RIMS1):c.2792G>A (p.Arg931Lys)	RIMS1 (R931K +8 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 7	GUncertain significance
Select item 909159	NM_014989.7(RIMS1):c.2827C>G (p.Gln943Glu)	RIMS1 (Q336E +8 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 909160	NM_014989.7(RIMS1):c.2865T>C (p.Ser955=)	RIMS1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 7	GUncertain significance
Select item 909161	NM_014989.7(RIMS1):c.2868T>C (p.Pro956=)	RIMS1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 7	GUncertain significance
Select item 287848	NM_014989.7(RIMS1):c.2894C>T (p.Pro965Leu)	RIMS1 (P965L +8 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 260495	NM_014989.7(RIMS1):c.2895G>A (p.Pro965=)	RIMS1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 7 +2 more	GBenign
Select item 156391	NM_014989.7(RIMS1):c.3139del (p.Thr1047fs)	RIMS1 (T506fs +3 more)	Deletion (intron variant +1 more)	Cone-rod dystrophy 7 +1 more	GConflicting classifications of pathogenicity
Select item 357849	NM_014989.7(RIMS1):c.3171C>T (p.Ser1057=)	RIMS1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 357850	NM_014989.7(RIMS1):c.3194+9C>A	RIMS1	Single nucleotide variant (intron variant)	Cone-rod dystrophy 7 +2 more	GBenign/Likely benign
Select item 911157	NM_014989.7(RIMS1):c.3249C>T (p.Ser1083=)	RIMS1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 911158	NM_014989.7(RIMS1):c.3279A>G (p.Val1093=)	RIMS1	Single nucleotide variant (synonymous variant +1 more)	Cone-rod dystrophy 7	GUncertain significance
Select item 911159	NM_014989.7(RIMS1):c.3308+12T>G	RIMS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 357851	NM_014989.7(RIMS1):c.3399-4A>G	RIMS1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 872603	NM_014989.7(RIMS1):c.3430C>T (p.Arg1144Ter)	RIMS1 (R1144* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 357852	NM_014989.7(RIMS1):c.3465G>A (p.Ala1155=)	RIMS1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 260496	NM_014989.7(RIMS1):c.3470C>T (p.Pro1157Leu)	RIMS1 (P1157L +4 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 7 +2 more	GBenign
Select item 911360	NM_014989.7(RIMS1):c.3554+13T>C	RIMS1	Single nucleotide variant (intron variant)	Cone-rod dystrophy 7	GUncertain significance
Select item 746942	NM_014989.7(RIMS1):c.3588C>T (p.His1196=)	RIMS1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 911361	NM_014989.7(RIMS1):c.3589G>A (p.Ala1197Thr)	RIMS1 (A555T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 840239	NM_014989.7(RIMS1):c.3703G>A (p.Gly1235Arg)	RIMS1 (G570R +5 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 7 +1 more	GConflicting classifications of pathogenicity
Select item 911362	NM_014989.7(RIMS1):c.3758C>T (p.Pro1253Leu)	RIMS1 (P417L +39 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 498460	NM_014989.7(RIMS1):c.3785C>T (p.Ser1262Leu)	RIMS1 (S1262L +39 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 357853	NM_014989.7(RIMS1):c.3786G>A (p.Ser1262=)	RIMS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 357854	NM_014989.7(RIMS1):c.3921G>T (p.Gly1307=)	RIMS1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 357855	NM_014989.7(RIMS1):c.3941T>C (p.Leu1314Pro)	RIMS1 (L1314P +36 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 357856	NM_014989.7(RIMS1):c.4057A>G (p.Thr1353Ala)	RIMS1 (T1353A +36 more)	Single nucleotide variant (missense variant +1 more)	Cone-Rod Dystrophy, Dominant	GUncertain significance
Select item 357857	NM_014989.7(RIMS1):c.4159C>T (p.Arg1387Trp)	RIMS1 (R1387W +38 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 7 +1 more	GConflicting classifications of pathogenicity
Select item 357858	NM_014989.7(RIMS1):c.4191G>A (p.Lys1397=)	RIMS1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 738820	NM_014989.7(RIMS1):c.4197C>T (p.Thr1399=)	RIMS1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 357859	NM_014989.7(RIMS1):c.4259T>C (p.Val1420Ala)	RIMS1 (V1420A +38 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 908385	NM_014989.7(RIMS1):c.4442T>C (p.Met1481Thr)	RIMS1 (M554T +62 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 7	GUncertain significance
Select item 908386	NM_014989.7(RIMS1):c.4444G>A (p.Val1482Ile)	RIMS1 (V526I +62 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 7	GUncertain significance
Select item 357860	NM_014989.7(RIMS1):c.4512A>G (p.Ile1504Met)	RIMS1 (I1504M +62 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 7 +1 more	GUncertain significance
Select item 260498	NM_014989.7(RIMS1):c.4548C>T (p.Phe1516=)	RIMS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 909233	NM_014989.7(RIMS1):c.4599C>T (p.Thr1533=)	RIMS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 357861	NM_014989.7(RIMS1):c.4618+20dup	RIMS1	Duplication (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 357862	NM_014989.7(RIMS1):c.4618+20del	RIMS1	Deletion (intron variant)	not provided +1 more	GBenign
Select item 357863	NM_014989.7(RIMS1):c.4842A>G (p.Pro1614=)	RIMS1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 7 +1 more	GBenign
Select item 357864	NM_014989.7(RIMS1):c.4860+15G>A	RIMS1	Single nucleotide variant (intron variant)	Cone-rod dystrophy 7 +1 more	GBenign
Select item 771400	NM_014989.7(RIMS1):c.4923C>T (p.Ile1641=)	RIMS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 909234	NM_014989.7(RIMS1):c.4945T>A (p.Ser1649Thr)	RIMS1 (S1031T +62 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 909235	NM_014989.7(RIMS1):c.4970A>G (p.Lys1657Arg)	RIMS1 (K960R +62 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 7	GUncertain significance
Select item 631988	NM_014989.7(RIMS1):c.5071C>T (p.Arg1691Ter)	RIMS1 (R1691* +62 more)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 357865	NM_014989.7(RIMS1):c.5076A>G (p.Ser1692=)	RIMS1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 7 +1 more	GBenign

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