CRNKL1[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 146116	GRCh38/hg38 20p12.1-11.22(chr20:17772771-21426789)x1	CFAP61, CFAP61-AS1 +117 more	Copy number loss	See cases	GPathogenic
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 3269565	NM_001278628.2(CRNKL1):c.1165G>T (p.Asp389Tyr)	CRNKL1 (D266Y +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 3269566	NM_001278628.2(CRNKL1):c.266A>G (p.Gln89Arg)	CRNKL1 (Q89R +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 376389	NM_001278628.2(CRNKL1):c.-101C>T	CRNKL1, LOC130065490 (S116F +1 more)	Single nucleotide variant (missense variant +2 more)	Malignant melanoma of skin +1 more	GLikely pathogenic
Select item 2652228	NM_015585.4(CFAP61):c.-37+87G>A	CFAP61, CRNKL1 +1 more (Q38* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GLikely benign
Select item 2378681	NM_016652.6(CRNKL1):c.23T>C (p.Leu8Pro)	CFAP61, CRNKL1 (L8P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3148932	GRCh37/hg19 20p11.23(chr20:19135948-20372082)x3	CFAP61, CRNKL1 +5 more	Copy number gain	See cases	GUncertain significance
Select item 3068499	Single allele	CFAP61, CRNKL1 +10 more	Complex	Hyperinsulinemic hypoglycemia, familial, 1	GLikely pathogenic
Select item 3068498	NC_000020.10:g.16400000_24400000del	BANF2, BFSP1 +49 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3068497	NC_000020.10:g.18200000_22600000del	CFAP61, CRNKL1 +19 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3068496	NC_000020.10:g.19434987_22528253del	CFAP61, CRNKL1 +10 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	THBD, TMC2 +164 more	Copy number gain	not provided	GPathogenic
Select item 1526686	GRCh37/hg19 20p11.23-11.22(chr20:19292925-22187397)	CFAP61, CRNKL1 +10 more	Copy number loss	not specified	GPathogenic
Select item 1341087	GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3	ABHD12, ACSS1 +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 979562	GRCh37/hg19 20p11.23-q11.21(chr20:19750804-30479077)x3	CST9, ACSS1 +57 more	Copy number gain	not provided	GLikely pathogenic
Select item 816114	GRCh37/hg19 20p12.3-11.22(chr20:8571696-22088650)x1	ANKEF1, BANF2 +49 more	Copy number loss	not provided	GPathogenic
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 564623	GRCh37/hg19 20p11.23(chr20:19907775-20236591)x3	RIN2, CFAP61 +2 more	Copy number gain	not provided	GUncertain significance
Select item 560101	Single allele	HCK, HM13 +89 more	Duplication	not provided	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 442830	GRCh37/hg19 20p11.23-11.1(chr20:18500917-25847320)x1	ABHD12, ACSS1 +44 more	Copy number loss	See cases	GPathogenic
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	ESF1, FAM110A +178 more	Copy number gain	not provided	GPathogenic
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253408	GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3	CCM2L, CD93 +89 more	Copy number gain	See cases	GPathogenic

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Items: 63