"GeneDx"[submitter] AND "RIMS1"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58794	GRCh38/hg38 6q13(chr6:71961903-72268687)x1	LOC129996709, RIMS1	Copy number loss	See cases	GUncertain significance
Select item 1272028	NM_014989.7(RIMS1):c.460-37C>T	RIMS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318444	NM_014989.7(RIMS1):c.471+97C>A	RIMS1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 260500	NM_014989.7(RIMS1):c.666A>G (p.Leu222=)	RIMS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 260501	NM_014989.7(RIMS1):c.743C>T (p.Ser248Leu)	RIMS1 (S248L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1181181	NM_014989.7(RIMS1):c.812+93G>A	RIMS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 95655	NM_014989.7(RIMS1):c.1083A>G (p.Leu361=)	RIMS1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 7 +2 more	GBenign
Select item 95656	NM_014989.7(RIMS1):c.1209G>A (p.Ala403=)	RIMS1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 7 +2 more	GBenign
Select item 450823	NM_014989.7(RIMS1):c.1249G>A (p.Ala417Thr)	RIMS1 (A417T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1281822	NM_014989.7(RIMS1):c.1679-20565G>A	RIMS1 (R29Q)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 677182	NM_014989.7(RIMS1):c.1857+61C>T	RIMS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677183	NM_014989.7(RIMS1):c.2928-80C>T	RIMS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241971	NM_014989.7(RIMS1):c.3053+74A>T	RIMS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 424611	NM_014989.7(RIMS1):c.3182G>A (p.Trp1061Ter)	RIMS1 (W1061* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1292865	NM_014989.7(RIMS1):c.3308+84_3308+86del	RIMS1	Microsatellite (intron variant)	not provided	GBenign
Select item 260496	NM_014989.7(RIMS1):c.3470C>T (p.Pro1157Leu)	RIMS1 (P1157L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 1278964	NM_014989.7(RIMS1):c.3482+79A>T	RIMS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222959	NM_014989.7(RIMS1):c.3555-91G>A	RIMS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 357857	NM_014989.7(RIMS1):c.4159C>T (p.Arg1387Trp)	RIMS1 (R1387W +38 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 260498	NM_014989.7(RIMS1):c.4548C>T (p.Phe1516=)	RIMS1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 7 +2 more	GBenign
Select item 357862	NM_014989.7(RIMS1):c.4618+20del	RIMS1	Deletion (intron variant)	Cone-Rod Dystrophy, Dominant +1 more	GBenign
Select item 1244606	NM_014989.7(RIMS1):c.4860+80_4860+81del	RIMS1	Microsatellite (intron variant)	not provided	GBenign
Select item 357867	NM_014989.7(RIMS1):c.*75G>A	RIMS1	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 7 +1 more	GBenign/Likely benign

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Items: 23