24299[HGNC] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932082, LOC129932083 +561 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	MIR488, MR1 +456 more	Copy number loss	See cases	GPathogenic
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129932021, LOC129932022 +478 more	Copy number loss	See cases	GPathogenic
Select item 60077	GRCh38/hg38 1q25.3-31.1(chr1:182137726-186931125)x1	APOBEC4, ARPC5 +160 more	Copy number loss	See cases	GPathogenic
Select item 144456	GRCh38/hg38 1q25.3-31.1(chr1:184888428-186622330)x1	GS1-204I12.4, HMCN1 +44 more	Copy number loss	See cases	GPathogenic
Select item 149055	GRCh38/hg38 1q31.1(chr1:185959703-187743891)x3	PLA2G4A, PRG4 +32 more	Copy number gain	See cases	GUncertain significance
Select item 154645	GRCh38/hg38 1q31.1(chr1:185977899-187712734)x3	HMCN1, LINC01036 +32 more	Copy number gain	See cases	GUncertain significance
Select item 152833	GRCh38/hg38 1q31.1(chr1:186356477-186580632)x3	LOC129932122, LOC129932123 +7 more	Copy number gain	See cases	GUncertain significance
Select item 3204065	NM_017847.6(ODR4):c.227C>G (p.Ala76Gly)	ODR4 (A76G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204066	NM_017847.6(ODR4):c.326G>A (p.Arg109His)	ODR4 (R109H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204067	NM_017847.6(ODR4):c.803C>T (p.Ser268Phe)	ODR4 (S236F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305455	NM_017847.6(ODR4):c.1000+2014C>T	OCLM, ODR4 (P5S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328260	NM_017847.6(ODR4):c.1000+2015C>T	OCLM, ODR4 (P5L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212827	NM_017847.6(ODR4):c.1000+2056A>G	OCLM, ODR4 (I19V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302841	NM_017847.6(ODR4):c.1000+2075T>C	OCLM, ODR4 (I25T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403140	NM_017847.6(ODR4):c.1000+2087G>A	OCLM, ODR4 (S29N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 715470	NM_017847.6(ODR4):c.1000+2105C>G	OCLM, ODR4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3302132	NM_017847.6(ODR4):c.1000+2119A>G	OCLM, ODR4	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3204063	NM_017847.6(ODR4):c.1126G>A (p.Glu376Lys)	ODR4 (E376K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204064	NM_017847.6(ODR4):c.1309G>A (p.Ala437Thr)	ODR4 (A414T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 2426819	NC_000001.10:g.(?_185703912)_(186957640_?)dup	HMCN1, OCLM +6 more	Duplication	not provided	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1808632	GRCh37/hg19 1q25.2-31.2(chr1:179727182-192260142)x1	ACBD6, APOBEC4 +48 more	Copy number loss	not provided	GPathogenic
Select item 1808555	GRCh37/hg19 1q31.1(chr1:186137950-187028283)x3	HMCN1, OCLM +6 more	Copy number gain	not provided	GUncertain significance
Select item 1527448	GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)	ACBD6, APOBEC4 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527437	GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)	ABL2, ACBD6 +82 more	Copy number loss	not specified	GPathogenic
Select item 1527404	GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)	BRINP2, BRINP3 +101 more	Copy number loss	not specified	GPathogenic
Select item 1341276	GRCh37/hg19 1q25.2-31.1(chr1:178522021-190322133)x1	ABL2, ACBD6 +56 more	Copy number loss	not provided	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 814145	GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1	ABL2, ACBD6 +88 more	Copy number loss	not provided	GPathogenic
Select item 687593	GRCh37/hg19 1q31.1(chr1:186318114-186573823)x3	OCLM, ODR4 +2 more	Copy number gain	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	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 442042	GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1	DENND1B, DHX9 +83 more	Copy number loss	See cases	GPathogenic
Select item 395006	GRCh37/hg19 1q31.1(chr1:186328876-186430216)x3	OCLM, ODR4 +2 more	Copy number gain	See cases	GUncertain significance
Select item 253546	GRCh37/hg19 1q25.3-31.2(chr1:181572003-191524283)x1	COLGALT2, LAMC1 +35 more	Copy number loss	See cases	GPathogenic

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Items: 40