"Ambry Genetics"[submitter] AND "RIGI"[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1039146	NM_014314.4(RIGI):c.2728G>T (p.Asp910Tyr)	RIGI (D853Y +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3314315	NM_014314.4(RIGI):c.2717C>T (p.Ser906Leu)	RIGI (S758L +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619121	NM_014314.4(RIGI):c.2681T>G (p.Val894Gly)	RIGI (V746G +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2531403	NM_014314.4(RIGI):c.2587T>C (p.Phe863Leu)	RIGI (F715L +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2184830	NM_014314.4(RIGI):c.2494A>G (p.Thr832Ala)	RIGI (T629A +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2596908	NM_014314.4(RIGI):c.2458A>G (p.Thr820Ala)	RIGI (T763A +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1488579	NM_014314.4(RIGI):c.2402C>T (p.Pro801Leu)	RIGI (P744L +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2509936	NM_014314.4(RIGI):c.2375A>G (p.Asp792Gly)	RIGI (D735G +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516242	NM_014314.4(RIGI):c.2327T>G (p.Phe776Cys)	RIGI (F573C +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2414869	NM_014314.4(RIGI):c.2286T>A (p.Asn762Lys)	RIGI (N559K +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1485705	NM_014314.4(RIGI):c.2264T>C (p.Met755Thr)	RIGI (M755T +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3154289	NM_014314.4(RIGI):c.2234C>G (p.Ala745Gly)	RIGI (A597G +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1353909	NM_014314.4(RIGI):c.2172G>A (p.Met724Ile)	RIGI (M577I +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1511498	NM_014314.4(RIGI):c.1991G>A (p.Arg664His)	RIGI (R664H +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2558593	NM_014314.4(RIGI):c.1946G>A (p.Gly649Glu)	RIGI (G446E +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2494928	NM_014314.4(RIGI):c.1933A>T (p.Asn645Tyr)	RIGI (N640Y +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1671865	NM_014314.4(RIGI):c.1864T>C (p.Tyr622His)	RIGI (Y419H +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1930448	NM_014314.4(RIGI):c.1819G>A (p.Glu607Lys)	RIGI (E404K +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2146596	NM_014314.4(RIGI):c.1795A>C (p.Ser599Arg)	RIGI (S451R +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1423796	NM_014314.4(RIGI):c.1792G>C (p.Glu598Gln)	RIGI (E596Q +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1005244	NM_014314.4(RIGI):c.1738G>A (p.Asp580Asn)	RIGI (D377N +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3154288	NM_014314.4(RIGI):c.1609G>A (p.Ala537Thr)	RIGI (A390T +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1436142	NM_014314.4(RIGI):c.1609G>T (p.Ala537Ser)	RIGI (A334S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3154287	NM_014314.4(RIGI):c.1587T>A (p.Asp529Glu)	RIGI (D326E +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3154286	NM_014314.4(RIGI):c.1387G>C (p.Val463Leu)	RIGI (V260L +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1424302	NM_014314.4(RIGI):c.1329A>T (p.Lys443Asn)	RIGI (K296N +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3154285	NM_014314.4(RIGI):c.1324G>A (p.Val442Ile)	RIGI (V295I +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1483200	NM_014314.4(RIGI):c.1310C>T (p.Ser437Leu)	RIGI (S290L +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3314319	NM_014314.4(RIGI):c.1295C>G (p.Ala432Gly)	RIGI (A284G +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1381168	NM_014314.4(RIGI):c.1277A>G (p.Tyr426Cys)	RIGI (Y223C +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3154284	NM_014314.4(RIGI):c.1262A>T (p.Asp421Val)	RIGI (D419V +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2696769	NM_014314.4(RIGI):c.1076C>T (p.Thr359Met)	RIGI (T212M +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3314316	NM_014314.4(RIGI):c.998C>T (p.Pro333Leu)	RIGI (P185L +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3314318	NM_014314.4(RIGI):c.968G>A (p.Gly323Asp)	RIGI (G120D +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2052965	NM_014314.4(RIGI):c.806G>A (p.Gly269Glu)	RIGI (G122E +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3154292	NM_014314.4(RIGI):c.719C>T (p.Pro240Leu)	RIGI (P37L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2735268	NM_014314.4(RIGI):c.704C>T (p.Thr235Ile)	RIGI (T235I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3154291	NM_014314.4(RIGI):c.601G>C (p.Glu201Gln)	RIGI (E54Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3314320	NM_014314.4(RIGI):c.544T>G (p.Phe182Val)	RIGI (F177V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1913768	NM_014314.4(RIGI):c.414A>C (p.Glu138Asp)	RIGI (E138D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2782749	NM_014314.4(RIGI):c.325C>T (p.Arg109Cys)	RIGI (R109C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3154290	NM_014314.4(RIGI):c.226G>A (p.Ala76Thr)	RIGI (A76T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2475750	NM_014314.4(RIGI):c.109G>A (p.Glu37Lys)	RIGI (E37K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2890866	NM_014314.4(RIGI):c.100A>G (p.Arg34Gly)	RIGI (R34G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3154293	NM_014314.4(RIGI):c.97T>C (p.Phe33Leu)	RIGI (F33L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign

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Items: 45