CRY1[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 57157	GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	LOC130008692, LOC130008693 +316 more	Copy number loss	See cases	GPathogenic
Select item 149538	GRCh38/hg38 12q23.3-24.11(chr12:105644967-108994840)x1	ABTB3, ASCL4 +122 more	Copy number loss	See cases	GUncertain significance
Select item 153339	GRCh38/hg38 12q23.3(chr12:106804832-107556040)x3	ABTB3, CRY1 +16 more	Copy number gain	See cases	GUncertain significance
Select item 427574	NM_004075.5(CRY1):c.1657+3A>C	CRY1	Single nucleotide variant (intron variant)	Sleep-wake schedule disorder, delayed phase type +2 more	Gassociation; risk factor
Select item 2594910	NM_004075.5(CRY1):c.1644C>G (p.His548Gln)	CRY1 (H389Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294718	NM_004075.5(CRY1):c.1629C>G (p.Asp543Glu)	CRY1 (D515E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035237	NM_004075.5(CRY1):c.1599G>A (p.Gly533=)	CRY1	Single nucleotide variant (synonymous variant +1 more)	CRY1-related disorder	GLikely benign
Select item 2353605	NM_004075.5(CRY1):c.1508T>C (p.Val503Ala)	CRY1 (V374A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781261	NM_004075.5(CRY1):c.1503A>T (p.Ala501=)	CRY1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2266133	NM_004075.5(CRY1):c.1469A>G (p.Gln490Arg)	CRY1 (Q361R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269638	NM_004075.5(CRY1):c.1399C>A (p.Pro467Thr)	CRY1 (P467T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385317	NM_004075.5(CRY1):c.1255G>C (p.Gly419Arg)	CRY1 (G260R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223059	NM_004075.5(CRY1):c.1226T>G (p.Phe409Cys)	CRY1 (F280C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269639	NM_004075.5(CRY1):c.1171A>G (p.Ser391Gly)	CRY1 (S262G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495652	NM_004075.5(CRY1):c.1034C>T (p.Thr345Ile)	CRY1 (T317I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3348751	NM_004075.5(CRY1):c.1024G>A (p.Ala342Thr)	CRY1 (A183T +4 more)	Single nucleotide variant (missense variant +1 more)	CRY1-related disorder	GUncertain significance
Select item 3269640	NM_004075.5(CRY1):c.1021G>A (p.Asp341Asn)	CRY1 (D313N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 729183	NM_004075.5(CRY1):c.993G>A (p.Ala331=)	CRY1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3269636	NM_004075.5(CRY1):c.973G>C (p.Glu325Gln)	CRY1 (E166Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3057228	NM_004075.5(CRY1):c.897A>G (p.Ala299=)	CRY1	Single nucleotide variant (synonymous variant +1 more)	CRY1-related disorder	GLikely benign
Select item 2611853	NM_004075.5(CRY1):c.872T>C (p.Leu291Ser)	CRY1 (L162S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1344736	NM_004075.5(CRY1):c.825+1G>A	CRY1	Single nucleotide variant (splice donor variant)	Sleep-wake schedule disorder, delayed phase type +1 more	Gassociation
Select item 3269637	NM_004075.5(CRY1):c.779T>G (p.Leu260Trp)	CRY1 (L101W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371374	NM_004075.5(CRY1):c.767G>A (p.Arg256Gln)	CRY1 (R127Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2635016	NM_004075.5(CRY1):c.766C>T (p.Arg256Ter)	CRY1 (R127* +4 more)	Single nucleotide variant (nonsense +1 more)	CRY1-related disorder	GUncertain significance
Select item 2484316	NM_004075.5(CRY1):c.722C>T (p.Ala241Val)	CRY1 (A112V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3059240	NM_004075.5(CRY1):c.636T>C (p.Gly212=)	CRY1	Single nucleotide variant (synonymous variant +1 more)	CRY1-related disorder	GBenign
Select item 2331417	NM_004075.5(CRY1):c.577C>T (p.Pro193Ser)	CRY1 (P34S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383301	NM_004075.5(CRY1):c.535A>G (p.Thr179Ala)	CRY1 (T177A +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2299130	NM_004075.5(CRY1):c.506C>G (p.Thr169Arg)	CRY1 (T10R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270769	NM_004075.5(CRY1):c.474C>G (p.Ser158Arg)	CRY1 (S156R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367054	NM_004075.5(CRY1):c.418G>A (p.Glu140Lys)	CRY1 (E11K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306556	NM_004075.5(CRY1):c.331G>A (p.Ala111Thr)	CRY1 (A111T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467104	NM_004075.5(CRY1):c.214C>T (p.Arg72Cys)	CRY1 (R70C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3077688	NM_004075.5(CRY1):c.200G>A (p.Arg67Gln)	CRY1 (R39Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2367515	NM_004075.5(CRY1):c.149A>G (p.Asn50Ser)	CRY1 (N50S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535777	NM_004075.5(CRY1):c.115C>T (p.Pro39Ser)	CRY1 (P39S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2217387	NM_004075.5(CRY1):c.78G>C (p.Gln26His)	CRY1 (Q26H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279484	NM_004075.5(CRY1):c.77A>G (p.Gln26Arg)	CRY1 (Q26R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077689	NM_004075.5(CRY1):c.73A>C (p.Ile25Leu)	CRY1 (I25L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3254738	NM_004075.5(CRY1):c.16G>A (p.Val6Met)	CRY1 (V6M)	Single nucleotide variant (missense variant +2 more)	Delayed sleep phase syndrome, susceptibility to	GUncertain significance
Select item 2259799	NM_004075.5(CRY1):c.14C>G (p.Ala5Gly)	CRY1 (A5G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035404	NM_004075.5(CRY1):c.6G>A (p.Gly2=)	CRY1	Single nucleotide variant (synonymous variant +2 more)	CRY1-related disorder	GLikely benign
Select item 3039039	NM_004075.5(CRY1):c.-5C>T	CRY1	Single nucleotide variant (5 prime UTR variant +1 more)	CRY1-related disorder	GLikely benign
Select item 2685454	GRCh37/hg19 12q23.3(chr12:107470593-107874218)x1	ABTB3, CRY1	Copy number loss	not provided	GUncertain significance
Select item 1527730	GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805)	ABTB3, ACACB +74 more	Copy number loss	not specified	GLikely pathogenic
Select item 1340640	GRCh37/hg19 12q23.3-24.12(chr12:104230462-111984801)x1	ABTB3, ACACB +73 more	Copy number loss	not provided	GPathogenic
Select item 988907	GRCh37/hg19 12q23.3-24.11(chr12:107197584-109830564)x1	ABTB3, ACACB +23 more	Copy number loss	not provided	GUncertain significance
Select item 980454	GRCh37/hg19 12q23.3-24.12(chr12:106498814-112252906)x1	ABTB3, ACACB +60 more	Copy number loss	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 54