"Ambry Genetics"[submitter] AND "CRNKL1"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2521687	NM_001278628.2(CRNKL1):c.2048A>C (p.Asp683Ala)	CRNKL1 (D832A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077558	NM_001278628.2(CRNKL1):c.2047G>A (p.Asp683Asn)	CRNKL1 (D683N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335916	NM_001278628.2(CRNKL1):c.2030A>G (p.His677Arg)	CRNKL1 (H554R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376289	NM_001278628.2(CRNKL1):c.1897T>A (p.Ser633Thr)	CRNKL1 (S633T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207868	NM_001278628.2(CRNKL1):c.1793G>A (p.Arg598Gln)	CRNKL1 (R598Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480059	NM_001278628.2(CRNKL1):c.1691A>G (p.Glu564Gly)	CRNKL1 (E725G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077557	NM_001278628.2(CRNKL1):c.1653G>C (p.Trp551Cys)	CRNKL1 (W428C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077556	NM_001278628.2(CRNKL1):c.1631G>A (p.Arg544Gln)	CRNKL1 (R544Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598298	NM_001278628.2(CRNKL1):c.1604G>A (p.Arg535Gln)	CRNKL1 (R412Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306737	NM_001278628.2(CRNKL1):c.1504T>A (p.Tyr502Asn)	CRNKL1 (Y379N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077555	NM_001278628.2(CRNKL1):c.1484T>C (p.Ile495Thr)	CRNKL1 (I656T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473326	NM_001278628.2(CRNKL1):c.1432A>T (p.Asn478Tyr)	CRNKL1 (N355Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077554	NM_001278628.2(CRNKL1):c.1393C>G (p.Arg465Gly)	CRNKL1 (R614G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077553	NM_001278628.2(CRNKL1):c.1315A>G (p.Ile439Val)	CRNKL1 (I316V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609309	NM_001278628.2(CRNKL1):c.1241T>C (p.Met414Thr)	CRNKL1 (M291T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549495	NM_001278628.2(CRNKL1):c.1232T>G (p.Phe411Cys)	CRNKL1 (F288C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477370	NM_001278628.2(CRNKL1):c.1136A>T (p.Tyr379Phe)	CRNKL1 (Y256F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222786	NM_001278628.2(CRNKL1):c.1078G>C (p.Val360Leu)	CRNKL1 (V509L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077552	NM_001278628.2(CRNKL1):c.1030G>A (p.Ala344Thr)	CRNKL1 (A505T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548243	NM_001278628.2(CRNKL1):c.1013G>A (p.Arg338His)	CRNKL1 (R215H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077551	NM_001278628.2(CRNKL1):c.997T>C (p.Trp333Arg)	CRNKL1 (W210R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077550	NM_001278628.2(CRNKL1):c.921T>G (p.Ile307Met)	CRNKL1 (I456M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407528	NM_001278628.2(CRNKL1):c.835C>G (p.Leu279Val)	CRNKL1 (L428V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256747	NM_001278628.2(CRNKL1):c.668G>A (p.Arg223His)	CRNKL1 (R223H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282122	NM_001278628.2(CRNKL1):c.601G>T (p.Ala201Ser)	CRNKL1 (A201S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077549	NM_001278628.2(CRNKL1):c.542A>G (p.Glu181Gly)	CRNKL1 (E342G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372217	NM_001278628.2(CRNKL1):c.446A>G (p.Asn149Ser)	CRNKL1 (N310S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237857	NM_001278628.2(CRNKL1):c.371T>G (p.Met124Arg)	CRNKL1 (M273R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077559	NM_001278628.2(CRNKL1):c.310T>C (p.Tyr104His)	CRNKL1 (Y253H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401823	NM_001278628.2(CRNKL1):c.217A>G (p.Asn73Asp)	CRNKL1 (N73D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302332	NM_001278628.2(CRNKL1):c.-82C>G	CRNKL1, LOC130065490 (S122R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2269728	NM_001278628.2(CRNKL1):c.-98G>A	CRNKL1, LOC130065490 (C117Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2378681	NM_015585.4(CFAP61):c.-36-626A>G	CFAP61, CRNKL1 (L8P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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Items: 33