"PreventionGenetics, part of Exact Sciences"[submitter] AND "RIN2"[gen - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3049804	NM_018993.4(RIN2):c.-36-2899G>A	RIN2	Single nucleotide variant (5 prime UTR variant +1 more)	RIN2-related disorder	GLikely benign
Select item 444566	NM_018993.4(RIN2):c.-36-2826C>T	RIN2 (P24L)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GLikely benign
Select item 2038788	NM_018993.4(RIN2):c.-16A>C	RIN2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2140100	NM_018993.4(RIN2):c.40C>T (p.Arg14Ter)	RIN2 (R14* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2635057	NM_018993.4(RIN2):c.106G>A (p.Val36Met)	RIN2 (V36M +1 more)	Single nucleotide variant (missense variant +1 more)	RIN2-related disorder	GUncertain significance
Select item 696330	NM_018993.4(RIN2):c.276C>A (p.His92Gln)	RIN2 (H141Q +1 more)	Single nucleotide variant (missense variant +1 more)	RIN2-related disorder +1 more	GLikely benign
Select item 695911	NM_018993.4(RIN2):c.365A>G (p.His122Arg)	RIN2 (H171R +1 more)	Single nucleotide variant (missense variant +1 more)	RIN2-related disorder +1 more	GBenign/Likely benign
Select item 257655	NM_018993.4(RIN2):c.589T>A (p.Ser197Thr)	RIN2 (S197T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 3051550	NM_018993.4(RIN2):c.750T>C (p.His250=)	RIN2	Single nucleotide variant (synonymous variant)	RIN2-related disorder	GLikely benign
Select item 421543	NM_018993.4(RIN2):c.797A>T (p.Asn266Ile)	RIN2 (N266I +2 more)	Single nucleotide variant (missense variant)	RIN2-related disorder +3 more	GUncertain significance
Select item 510697	NM_018993.4(RIN2):c.868C>A (p.Arg290=)	RIN2	Single nucleotide variant (synonymous variant)	RIN2-related disorder +1 more	GBenign/Likely benign
Select item 514830	NM_018993.4(RIN2):c.903G>T (p.Thr301=)	RIN2	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 695293	NM_018993.4(RIN2):c.924A>C (p.Pro308=)	RIN2	Single nucleotide variant (synonymous variant)	RIN2-related disorder +1 more	GBenign/Likely benign
Select item 695396	NM_018993.4(RIN2):c.928A>C (p.Arg310=)	RIN2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 695546	NM_018993.4(RIN2):c.936G>C (p.Pro312=)	RIN2	Single nucleotide variant (synonymous variant)	RIN2-related disorder +1 more	GLikely benign
Select item 3041279	NM_018993.4(RIN2):c.939A>C (p.Pro313=)	RIN2	Single nucleotide variant (synonymous variant)	RIN2-related disorder	GLikely benign
Select item 3045478	NM_018993.4(RIN2):c.945T>G (p.Ala315=)	RIN2	Single nucleotide variant (synonymous variant)	RIN2-related disorder	GLikely benign
Select item 436539	NM_018993.4(RIN2):c.1004C>G (p.Pro335Arg)	RIN2 (P335R +2 more)	Single nucleotide variant (missense variant)	RIN2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 436540	NM_018993.4(RIN2):c.1045C>T (p.Pro349Ser)	RIN2 (P349S +2 more)	Single nucleotide variant (missense variant)	RIN2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 511737	NM_018993.4(RIN2):c.1141C>T (p.Arg381Trp)	RIN2 (R381W +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 682283	NM_018993.4(RIN2):c.1239G>T (p.Pro413=)	RIN2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 389384	NM_018993.4(RIN2):c.1338G>C (p.Arg446=)	RIN2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 2157986	NM_018993.4(RIN2):c.1398G>A (p.Gly466=)	RIN2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 695752	NM_018993.4(RIN2):c.1557C>T (p.Ala519=)	RIN2	Single nucleotide variant (synonymous variant)	RIN2-related disorder +1 more	GBenign/Likely benign
Select item 374444	NM_018993.4(RIN2):c.1642G>A (p.Val548Met)	RIN2 (V548M +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 257654	NM_018993.4(RIN2):c.1818C>T (p.His606=)	RIN2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 3039394	NM_018993.4(RIN2):c.1896G>A (p.Arg632=)	RIN2	Single nucleotide variant (synonymous variant)	RIN2-related disorder	GLikely benign
Select item 425266	NM_018993.4(RIN2):c.1966G>A (p.Val656Ile)	RIN2 (V656I +2 more)	Single nucleotide variant (missense variant)	RIN2-related disorder +2 more	GLikely benign
Select item 2973753	NM_018993.4(RIN2):c.1998G>A (p.Ser666=)	RIN2	Single nucleotide variant (synonymous variant)	RIN2-related disorder +1 more	GLikely benign
Select item 390362	NM_018993.4(RIN2):c.2031C>A (p.Val677=)	RIN2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 800230	NM_018993.4(RIN2):c.2260G>A (p.Glu754Lys)	RIN2 (E803K +2 more)	Single nucleotide variant (missense variant)	RIN2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 701381	NM_018993.4(RIN2):c.2466C>T (p.Cys822=)	RIN2	Single nucleotide variant (synonymous variant)	RIN2-related disorder +1 more	GLikely benign
Select item 2196971	NM_018993.4(RIN2):c.2478C>T (p.Phe826=)	RIN2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 218547	NM_018993.4(RIN2):c.2501A>T (p.Tyr834Phe)	RIN2 (Y834F +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 512337	NM_018993.4(RIN2):c.2529A>T (p.Thr843=)	RIN2	Single nucleotide variant (synonymous variant)	RIN2-related disorder +1 more	GLikely benign
Select item 425267	NM_018993.4(RIN2):c.2627T>C (p.Ile876Thr)	RIN2 (I876T +2 more)	Single nucleotide variant (missense variant)	RIN2-related disorder +2 more	GConflicting classifications of pathogenicity

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Items: 36