"Ambry Genetics"[submitter] AND "RIPK1"[gene] - ClinVar

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

Search results

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3154515	NM_001354930.2(RIPK1):c.140T>C (p.Val47Ala)	RIPK1 (V47A)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2164101	NM_001354930.2(RIPK1):c.155A>G (p.Asn52Ser)	RIPK1 (N52S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1524172	NM_001354930.2(RIPK1):c.178C>G (p.Leu60Val)	RIPK1 (L60V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1419800	NM_001354930.2(RIPK1):c.191C>T (p.Ala64Val)	RIPK1 (A64V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1175735	NM_001354930.2(RIPK1):c.212G>C (p.Arg71Thr)	RIPK1 (R71T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2252322	NM_001354930.2(RIPK1):c.231G>T (p.Lys77Asn)	RIPK1 (K77N)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2555918	NM_001354930.2(RIPK1):c.292G>A (p.Gly98Ser)	RIPK1 (G98S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1976365	NM_001354930.2(RIPK1):c.412G>T (p.Asp138Tyr)	RIPK1 (D138Y)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1426866	NM_001354930.2(RIPK1):c.472G>A (p.Gly158Ser)	RIPK1 (G112S +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1524004	NM_001354930.2(RIPK1):c.478G>A (p.Ala160Thr)	RIPK1 (A114T +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2143682	NM_001354930.2(RIPK1):c.544A>G (p.Thr182Ala)	RIPK1 (T136A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2274057	NM_001354930.2(RIPK1):c.580G>A (p.Ala194Thr)	RIPK1 (A194T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2537847	NM_001354930.2(RIPK1):c.605A>G (p.Asn202Ser)	RIPK1 (N156S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1409194	NM_001354930.2(RIPK1):c.607G>T (p.Ala203Ser)	RIPK1 (A203S +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2317128	NM_001354930.2(RIPK1):c.721A>G (p.Ile241Val)	RIPK1 (I195V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537766	NM_001354930.2(RIPK1):c.748G>C (p.Asp250His)	RIPK1 (D87H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242383	NM_001354930.2(RIPK1):c.827C>G (p.Pro276Arg)	RIPK1 (P113R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2140828	NM_001354930.2(RIPK1):c.842T>C (p.Ile281Thr)	RIPK1 (I118T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2606043	NM_001354930.2(RIPK1):c.854T>A (p.Phe285Tyr)	RIPK1 (F122Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3154517	NM_001354930.2(RIPK1):c.892G>A (p.Glu298Lys)	RIPK1 (E252K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3154518	NM_001354930.2(RIPK1):c.898G>A (p.Asp300Asn)	RIPK1 (D254N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1029754	NM_001354930.2(RIPK1):c.931G>A (p.Glu311Lys)	RIPK1 (E148K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1523105	NM_001354930.2(RIPK1):c.995G>A (p.Arg332Gln)	RIPK1 (R169Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2178262	NM_001354930.2(RIPK1):c.1021G>A (p.Gly341Ser)	RIPK1 (G178S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3314512	NM_001354930.2(RIPK1):c.1127G>A (p.Ser376Asn)	RIPK1 (S330N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1362614	NM_001354930.2(RIPK1):c.1184C>T (p.Thr395Met)	RIPK1 (T232M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2558480	NM_001354930.2(RIPK1):c.1187A>C (p.Lys396Thr)	RIPK1 (K350T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281628	NM_001354930.2(RIPK1):c.1385T>G (p.Leu462Arg)	RIPK1 (L299R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1059816	NM_001354930.2(RIPK1):c.1456C>T (p.Pro486Ser)	RIPK1 (P323S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2309419	NM_001354930.2(RIPK1):c.1514T>G (p.Val505Gly)	RIPK1 (V342G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1449619	NM_001354930.2(RIPK1):c.1541C>T (p.Thr514Ile)	RIPK1 (T351I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3154516	NM_001354930.2(RIPK1):c.1691T>G (p.Phe564Cys)	RIPK1 (F518C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1506823	NM_001354930.2(RIPK1):c.1748C>T (p.Thr583Met)	RIPK1 (T420M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2605392	NM_001354930.2(RIPK1):c.1756C>T (p.His586Tyr)	RIPK1 (H423Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605027	NM_001354930.2(RIPK1):c.1852G>A (p.Asp618Asn)	RIPK1 (D455N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1034027	NM_001354930.2(RIPK1):c.1862G>A (p.Arg621Gln)	RIPK1 (R575Q +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2311603	NM_001354930.2(RIPK1):c.1890G>C (p.Gln630His)	RIPK1 (Q467H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1908166	NM_001354930.2(RIPK1):c.1991G>A (p.Ser664Asn)	RIPK1 (S664N +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 38