CRKL[gene] and "single gene"[properties] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2995265	NM_005207.4(CRKL):c.27G>A (p.Ser9=)	CRKL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 785680	NM_005207.4(CRKL):c.36C>T (p.Ser12=)	CRKL	Single nucleotide variant (synonymous variant +1 more)	CRKL-related disorder +1 more	GBenign
Select item 2672897	NM_005207.4(CRKL):c.79del (p.Arg27fs)	CRKL (R27fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1907994	NM_005207.4(CRKL):c.90C>T (p.Gly30=)	CRKL	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3077524	NM_005207.4(CRKL):c.103A>G (p.Met35Val)	CRKL (M35V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1996769	NM_005207.4(CRKL):c.126C>T (p.Ser42=)	CRKL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 735924	NM_005207.4(CRKL):c.249C>T (p.Ala83=)	CRKL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2764717	NM_005207.4(CRKL):c.289A>G (p.Thr97Ala)	CRKL (T97A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2652924	NM_005207.4(CRKL):c.311+2T>C	CRKL	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2981872	NM_005207.4(CRKL):c.311+6C>T	CRKL	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2558001	NM_005207.4(CRKL):c.337G>A (p.Val113Ile)	CRKL (V113I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1940607	NM_005207.4(CRKL):c.506G>A (p.Arg169Gln)	CRKL (R169Q)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2903897	NM_005207.4(CRKL):c.532G>A (p.Val178Ile)	CRKL (V178I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 756908	NM_005207.4(CRKL):c.534C>T (p.Val178=)	CRKL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3047831	NM_005207.4(CRKL):c.621C>T (p.Tyr207=)	CRKL	Single nucleotide variant (synonymous variant +1 more)	CRKL-related disorder	GLikely benign
Select item 2893990	NM_005207.4(CRKL):c.660C>T (p.Ser220=)	CRKL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 770308	NM_005207.4(CRKL):c.661G>A (p.Gly221Ser)	CRKL (G221S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1896738	NM_005207.4(CRKL):c.677C>T (p.Ala226Val)	CRKL (A226V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 733871	NM_005207.4(CRKL):c.699A>T (p.Thr233=)	CRKL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1634921	NM_005207.4(CRKL):c.778-20T>C	CRKL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1494353	NM_005207.4(CRKL):c.788T>C (p.Ile263Thr)	CRKL (I263T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 740575	NM_005207.4(CRKL):c.789C>T (p.Ile263=)	CRKL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 626092	NM_005207.4(CRKL):c.840C>T (p.Asn280=)	CRKL	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2540240	NM_005207.4(CRKL):c.841G>A (p.Gly281Arg)	CRKL (G281R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3248107	NC_000022.10:g.(?_21288047)_(21288552_?)del	CRKL	Deletion	not provided	GUncertain significance

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Items: 25