ClinVar for Gene (Select 1408) - ClinVar

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Links from Gene

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3077699	NM_021117.5(CRY2):c.758A>G (p.Tyr253Cys)	CRY2 (Y192C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077698	NM_021117.5(CRY2):c.670C>A (p.Leu224Ile)	CRY2, LOC121832791 (L163I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077697	NM_021117.5(CRY2):c.598G>A (p.Glu200Lys)	CRY2, LOC121832791 (E200K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077696	NM_021117.5(CRY2):c.1711G>C (p.Gly571Arg)	CRY2 (G571R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077694	NM_021117.5(CRY2):c.1558G>A (p.Ala520Thr)	CRY2 (A459T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077693	NM_021117.5(CRY2):c.1480G>C (p.Glu494Gln)	CRY2 (E433Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077692	NM_021117.5(CRY2):c.1459C>T (p.Arg487Trp)	CRY2 (R487W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077691	NM_021117.5(CRY2):c.60C>G (p.Asp20Glu)	CRY2 (D20E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077690	NM_021117.5(CRY2):c.41C>A (p.Ala14Glu)	CRY2 (A14E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063195	GRCh37/hg19 11p11.2(chr11:45810101-45930554)x3	CRY2, FREY1 +2 more	Copy number gain	not specified	GUncertain significance
Select item 2684643	GRCh37/hg19 11p11.2(chr11:45804897-45930554)x3	CRY2, FREY1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2610639	NM_021117.5(CRY2):c.1034C>T (p.Ala345Val)	CRY2 (A345V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607425	NM_021117.5(CRY2):c.1052A>G (p.Glu351Gly)	CRY2 (E290G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538100	NM_021117.5(CRY2):c.1126G>C (p.Ala376Pro)	CRY2 (A315P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530561	NM_021117.5(CRY2):c.995C>T (p.Pro332Leu)	CRY2 (P271L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524135	NM_021117.5(CRY2):c.382C>T (p.Arg128Trp)	CRY2 (R128W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482860	NM_021117.5(CRY2):c.41C>T (p.Ala14Val)	CRY2 (A14V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476083	NM_021117.3(CRY2):c.22T>C (p.Tyr8His)	CRY2 (Y8H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461882	NM_021117.5(CRY2):c.511C>T (p.Arg171Cys)	CRY2, LOC121832791 (R171C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461359	NM_021117.5(CRY2):c.1541G>A (p.Arg514Gln)	CRY2 (R453Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426467	NC_000011.9:g.(?_45827353)_(47804770_?)del	ACP2, AGBL2 +40 more	Deletion	Leukocyte adhesion deficiency type II	GPathogenic
Select item 2412210	NM_021117.5(CRY2):c.856T>C (p.Tyr286His)	CRY2 (Y225H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408612	NM_021117.5(CRY2):c.455A>G (p.Tyr152Cys)	CRY2 (Y91C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365225	NM_021117.5(CRY2):c.1468G>A (p.Val490Ile)	CRY2 (V490I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364730	NM_021117.5(CRY2):c.433A>G (p.Thr145Ala)	CRY2 (T84A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342764	NM_021117.5(CRY2):c.434C>T (p.Thr145Met)	CRY2 (T145M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342690	NM_021117.5(CRY2):c.859C>T (p.Arg287Cys)	CRY2 (R226C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296569	NM_021117.5(CRY2):c.779C>T (p.Ala260Val)	CRY2 (A260V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296003	NM_021117.5(CRY2):c.11C>G (p.Thr4Ser)	CRY2 (T4S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293735	NM_021117.5(CRY2):c.733G>A (p.Glu245Lys)	CRY2, LOC121832791 (E245K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254247	NM_021117.5(CRY2):c.955G>A (p.Ala319Thr)	CRY2 (A258T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252996	NM_021117.5(CRY2):c.161A>G (p.Tyr54Cys)	CRY2 (Y54C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACCS, ACCSL +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1483268	NC_000011.9:g.(?_45827353)_(45932533_?)dup	CRY2, FREY1 +3 more	Duplication	Peroxisome biogenesis disorder	GUncertain significance
Select item 1457696	NC_000011.9:g.(?_45827353)_(46401497_?)del	DGKZ, FREY1 +7 more	Deletion	Peroxisome biogenesis disorder	GPathogenic
Select item 1340048	GRCh37/hg19 11p12-11.2(chr11:40117145-46920718)x1	ACCS, ACCSL +33 more	Copy number loss	not provided	GPathogenic
Select item 1000344	NC_000011.9:g.(?_45827353)_(47804770_?)dup	F2, FAM180B +40 more	Duplication	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 979916	GRCh37/hg19 11p11.2(chr11:44266593-46123796)x4	ALX4, PRDM11 +13 more	Copy number gain	not provided	GUncertain significance
Select item 832501	NC_000011.10:g.(?_45805782)_(45910982_?)dup	MAPK8IP1, CRY2 +3 more	Duplication	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 782294	NM_021117.3(CRY2):c.35C>A (p.Ala12Glu)	CRY2 (A12E)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 780966	NM_021117.5(CRY2):c.807C>T (p.Gly269=)	CRY2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 154181	GRCh38/hg38 11p12-11.2(chr11:42553659-46114792)x1	ACCS, ACCSL +111 more	Copy number loss	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +254 more	Copy number gain	See cases	GLikely pathogenic
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +264 more	Copy number loss	See cases	GPathogenic
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	ACCS, ACCSL +258 more	Copy number loss	See cases	GPathogenic
Select item 58891	GRCh38/hg38 11p11.2(chr11:44136593-46121139)x1	ALX4, CD82 +78 more	Copy number loss	See cases	GPathogenic
Select item 58889	GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1	LOC130005622, LOC130005623 +224 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 51