ClinVar for Gene (Select 54901) - ClinVar

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

Links from Gene

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2613726	NM_017774.3(CDKAL1):c.1670C>T (p.Ala557Val)	CDKAL1, LOC126859616 (A557V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599901	NM_017774.3(CDKAL1):c.595A>G (p.Ile199Val)	CDKAL1 (I199V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2581150	NM_017774.3(CDKAL1):c.1241del (p.Lys414fs)	CDKAL1 (K414fs)	Deletion (frameshift variant)	Type 2 diabetes mellitus	Gnot provided
Select item 2470887	NM_017774.3(CDKAL1):c.455T>A (p.Leu152Gln)	CDKAL1 (L152Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464127	NM_017774.3(CDKAL1):c.382G>A (p.Glu128Lys)	CDKAL1 (E128K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460903	NM_017774.3(CDKAL1):c.1411A>C (p.Met471Leu)	CDKAL1 (M471L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408976	NM_017774.3(CDKAL1):c.1684G>A (p.Val562Met)	CDKAL1, LOC126859616 (V562M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401808	NM_017774.3(CDKAL1):c.1103G>A (p.Gly368Glu)	CDKAL1 (G368E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376678	NM_017774.3(CDKAL1):c.227A>G (p.Asn76Ser)	CDKAL1 (N76S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325624	NM_017774.3(CDKAL1):c.767C>A (p.Thr256Asn)	CDKAL1 (T256N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319133	NM_017774.3(CDKAL1):c.214G>T (p.Gly72Cys)	CDKAL1 (G72C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317184	NM_017774.3(CDKAL1):c.484C>A (p.Arg162Ser)	CDKAL1 (R162S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309273	NM_017774.3(CDKAL1):c.1201C>T (p.Pro401Ser)	CDKAL1 (P401S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303022	NM_017774.3(CDKAL1):c.1611G>T (p.Gln537His)	CDKAL1, LOC126859616 (Q537H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273406	NM_017774.3(CDKAL1):c.96G>C (p.Lys32Asn)	CDKAL1 (K32N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246925	NM_017774.3(CDKAL1):c.1410C>A (p.Phe470Leu)	CDKAL1 (F470L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242476	NM_017774.3(CDKAL1):c.1423G>A (p.Val475Ile)	CDKAL1 (V475I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1810398	GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3	ADTRP, ATXN1 +89 more	Copy number gain	See cases	GPathogenic
Select item 1809386	GRCh37/hg19 6p24.1-22.3(chr6:12005630-22849647)x1	ATXN1, CAP2 +32 more	Copy number loss	not provided	GPathogenic
Select item 1527228	GRCh37/hg19 6p22.3(chr6:20688779-20777106)	CDKAL1	Copy number loss	not specified	GUncertain significance
Select item 1340319	GRCh37/hg19 6p22.3(chr6:20640280-20943724)x1	CDKAL1	Copy number loss	not provided	GUncertain significance
Select item 979713	GRCh37/hg19 6p22.3(chr6:20862458-21061345)x1	CDKAL1	Copy number loss	not provided	GUncertain significance
Select item 979711	GRCh37/hg19 6p22.3(chr6:20725304-21039951)x1	CDKAL1	Copy number loss	not provided	GUncertain significance
Select item 979709	GRCh37/hg19 6p22.3(chr6:20569828-20789174)x1	CDKAL1	Copy number loss	not provided	GUncertain significance
Select item 979708	GRCh37/hg19 6p22.3(chr6:21061217-21312467)x3	CDKAL1	Copy number gain	not provided	GUncertain significance
Select item 814802	GRCh37/hg19 6p22.3(chr6:21010811-21145207)x1	CDKAL1	Copy number loss	not provided	GLikely benign
Select item 814801	GRCh37/hg19 6p22.3(chr6:20690757-21061177)x1	CDKAL1	Copy number loss	not provided	GUncertain significance
Select item 814800	GRCh37/hg19 6p22.3(chr6:20688779-20778737)x1	CDKAL1	Copy number loss	not provided	GUncertain significance
Select item 814799	GRCh37/hg19 6p22.3(chr6:20488753-20882544)x3	E2F3, CDKAL1	Copy number gain	not provided	GUncertain significance
Select item 812171	NM_017774.3(CDKAL1):c.371+11642G>C	CDKAL1	Single nucleotide variant (intron variant)	Obesity	Grisk factor
Select item 776115	NM_017774.3(CDKAL1):c.1692G>A (p.Leu564=)	CDKAL1, LOC126859616	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776114	NM_017774.3(CDKAL1):c.297C>T (p.Ser99=)	CDKAL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 773467	NM_017774.3(CDKAL1):c.116G>A (p.Arg39Gln)	CDKAL1 (R39Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 759968	NM_017774.3(CDKAL1):c.1549-5TA[3]	CDKAL1, LOC126859616	Microsatellite (splice acceptor variant)	not provided	GLikely benign
Select item 729147	NM_017774.3(CDKAL1):c.591G>A (p.Pro197=)	CDKAL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 716023	NM_017774.3(CDKAL1):c.1549-4A>G	CDKAL1, LOC126859616	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 715336	NM_017774.3(CDKAL1):c.1355A>T (p.Tyr452Phe)	CDKAL1 (Y452F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 688193	GRCh37/hg19 6p23-22.3(chr6:13910125-22000204)x1	ATXN1, CAP2 +21 more	Copy number loss	not provided	GPathogenic
Select item 687409	GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3	ADTRP, ATXN1 +95 more	Copy number gain	not provided	GPathogenic
Select item 563164	GRCh37/hg19 6p22.3(chr6:20798523-21040408)x3	CDKAL1	Copy number gain	not provided	GUncertain significance
Select item 563163	GRCh37/hg19 6p22.3(chr6:20460699-20864269)x3	CDKAL1, E2F3	Copy number gain	not provided	GUncertain significance
Select item 563140	GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3	ADTRP, ATXN1 +93 more	Copy number gain	not provided	GPathogenic
Select item 560067	Single allele	ADTRP, ATXN1 +95 more	Duplication	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 442457	GRCh37/hg19 6p23-22.3(chr6:13693852-24225515)x1	ATXN1, CAP2 +27 more	Copy number loss	See cases	GPathogenic
Select item 253526	GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3	STMND1, SYCP2L +95 more	Copy number gain	See cases	GPathogenic
Select item 226276	GRCh37/hg19 6p22.3(chr6:20884837-21082258)	CDKAL1	Copy number loss	Abnormal esophagus morphology	GLikely pathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	LOC129995913, LOC129995914 +1340 more	Copy number gain	See cases	GPathogenic
Select item 987	NM_017774.3(CDKAL1):c.371+30101A>G	CDKAL1	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	GUncertain significance
Select item 986	NM_017774.3(CDKAL1):c.371+11426A>C	CDKAL1	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 59