ClinVar for Gene (Select 1429) - ClinVar

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Links from Gene

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3269715	NM_001889.4(CRYZ):c.595A>G (p.Asn199Asp)	CRYZ (N199D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077930	NM_001889.4(CRYZ):c.716A>G (p.His239Arg)	CRYZ (H102R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077929	NM_001889.4(CRYZ):c.518G>T (p.Gly173Val)	CRYZ (G36V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077928	NM_001889.4(CRYZ):c.443C>T (p.Ala148Val)	CRYZ (A148V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077927	NM_001889.4(CRYZ):c.290G>C (p.Ser97Thr)	CRYZ (S97T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3057215	NM_001889.4(CRYZ):c.759A>G (p.Glu253=)	CRYZ	Single nucleotide variant (synonymous variant)	CRYZ-related disorder	GBenign
Select item 3048884	NM_001889.4(CRYZ):c.120C>A (p.Ile40=)	CRYZ	Single nucleotide variant (synonymous variant +1 more)	CRYZ-related disorder	GLikely benign
Select item 3039758	NM_001889.4(CRYZ):c.867A>C (p.Gly289=)	CRYZ	Single nucleotide variant (synonymous variant)	CRYZ-related disorder	GLikely benign
Select item 3038572	NM_001889.4(CRYZ):c.839A>G (p.Gln280Arg)	CRYZ (Q143R +2 more)	Single nucleotide variant (missense variant)	CRYZ-related disorder	GLikely benign
Select item 3037236	NM_001889.4(CRYZ):c.615C>T (p.Tyr205=)	CRYZ	Single nucleotide variant (synonymous variant)	CRYZ-related disorder	GBenign
Select item 3024572	GRCh37/hg19 1p31.1-22.3(chr1:73616197-87012961)x1	ACADM, ADGRL2 +52 more	Copy number loss	not provided	GLikely pathogenic
Select item 2685807	GRCh37/hg19 1p31.1(chr1:74993063-75580191)x3	CRYZ, ERICH3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2608007	NM_001889.4(CRYZ):c.353C>G (p.Pro118Arg)	CRYZ (P118R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2496442	NM_001889.4(CRYZ):c.215A>T (p.Asp72Val)	CRYZ (D72V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325628	NM_001889.4(CRYZ):c.617T>C (p.Ile206Thr)	CRYZ (I206T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320269	NM_001889.4(CRYZ):c.730A>G (p.Ile244Val)	CRYZ (I107V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317625	NM_001889.4(CRYZ):c.215A>G (p.Asp72Gly)	CRYZ (D72G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254815	NM_001889.4(CRYZ):c.689T>G (p.Leu230Arg)	CRYZ (L230R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236705	NM_001889.4(CRYZ):c.659T>C (p.Ile220Thr)	CRYZ (I220T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219784	NM_001889.4(CRYZ):c.284C>G (p.Thr95Ser)	CRYZ (T95S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214695	NM_001889.4(CRYZ):c.164G>A (p.Arg55His)	CRYZ (R55H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808328	GRCh37/hg19 1p31.1(chr1:74734130-75521892)x3	CRYZ, ERICH3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1707456	Single allele	ACADM, AK5 +188 more	Duplication	not specified	GUncertain significance
Select item 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	GPathogenic
Select item 1003776	NM_001889.4(CRYZ):c.1A>C (p.Met1Leu)	CRYZ (M1L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 814100	GRCh37/hg19 1p31.1(chr1:74969395-75264251)x3	TNNI3K, TYW3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 783288	NM_001889.4(CRYZ):c.547G>A (p.Glu183Lys)	CRYZ (E183K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 771689	NM_001889.4(CRYZ):c.265-1G>A	CRYZ	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 728987	NM_001889.4(CRYZ):c.732+1G>A	CRYZ	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely benign
Select item 728063	NM_001889.4(CRYZ):c.913T>C (p.Leu305=)	CRYZ	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 686749	GRCh37/hg19 1p31.3-31.1(chr1:66868168-77106425)x1	ACADM, ANKRD13C +39 more	Copy number loss	not provided	GPathogenic
Select item 685733	GRCh37/hg19 1p31.3-22.3(chr1:67851233-86101340)x1	ACADM, ADGRL2 +65 more	Copy number loss	not provided	GPathogenic
Select item 684460	Single allele	ACADM, ADGRL2 +85 more	Deletion	not provided	Gnot provided
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 625763	GRCh37/hg19 1p31.1(chr1:71410579-78131158)	ACADM, AK5 +21 more	Copy number gain	not provided	GPathogenic
Select item 565113	GRCh37/hg19 1p31.1(chr1:74125095-75208561)x1	FPGT, ERICH3 +5 more	Copy number loss	not provided	GUncertain significance
Select item 565112	GRCh37/hg19 1p31.1(chr1:72859282-75395703)x3	TYW3, TNNI3K +5 more	Copy number gain	not provided	GUncertain significance
Select item 565111	GRCh37/hg19 1p31.1(chr1:72103442-77186974)x3	LRRIQ3, FPGT-TNNI3K +14 more	Copy number gain	not provided	GLikely pathogenic
Select item 493562	GRCh37/hg19 1p31.1(chr1:72578280-77429541)x3	ACADM, ASB17 +14 more	Copy number gain	not provided	GUncertain significance
Select item 442708	GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1	ACADM, ADGRL2 +94 more	Copy number loss	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441908	GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)x1	ACADM, ADGRL2 +80 more	Copy number loss	See cases	GPathogenic
Select item 441757	GRCh37/hg19 1p31.1(chr1:74848936-80324850)x3	ACADM, ADGRL4 +24 more	Copy number gain	See cases	GUncertain significance
Select item 441647	GRCh37/hg19 1p31.3-31.1(chr1:61351024-79583933)x1	ACADM, ADGRL4 +78 more	Copy number loss	See cases	GPathogenic
Select item 155062	GRCh38/hg38 1p31.3-31.1(chr1:66865125-77123381)x1	ACADM, ANKRD13C +165 more	Copy number loss	See cases	GPathogenic
Select item 154385	GRCh38/hg38 1p31.3-31.1(chr1:64072618-75518432)x3	AK4, ANKRD13C +210 more	Copy number gain	See cases	GPathogenic
Select item 154278	GRCh38/hg38 1p31.1(chr1:74261660-75056208)x3	CRYZ, ERICH3 +8 more	Copy number gain	See cases	GUncertain significance
Select item 152689	GRCh38/hg38 1p31.1(chr1:74320173-74823743)x3	CRYZ, ERICH3 +8 more	Copy number gain	See cases	GUncertain significance
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	MIGA1, MIR101-1 +558 more	Copy number loss	See cases	GPathogenic
Select item 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	ACADM, AK4 +331 more	Copy number loss	See cases	GPathogenic
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic

ClinVar

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Germline classification

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Links from Gene

Items: 52