24882[HGNC] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 3100980	NM_018178.6(GOLPH3L):c.668T>C (p.Leu223Pro)	GOLPH3L (L223P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100979	NM_018178.6(GOLPH3L):c.649C>T (p.Arg217Cys)	GOLPH3L (R217C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462966	NM_018178.6(GOLPH3L):c.629G>A (p.Arg210Gln)	GOLPH3L (R210Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100978	NM_018178.6(GOLPH3L):c.628C>T (p.Arg210Trp)	GOLPH3L (R210W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338823	NM_018178.6(GOLPH3L):c.581C>A (p.Thr194Lys)	GOLPH3L (T194K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600630	NM_018178.6(GOLPH3L):c.539T>G (p.Phe180Cys)	GOLPH3L (F180C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226550	NM_018178.6(GOLPH3L):c.417A>G (p.Ile139Met)	GOLPH3L (I139M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616481	NM_018178.6(GOLPH3L):c.378C>G (p.Ile126Met)	GOLPH3L (I126M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100976	NM_018178.6(GOLPH3L):c.308A>G (p.Asp103Gly)	GOLPH3L (D103G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384891	NM_018178.6(GOLPH3L):c.281C>T (p.Pro94Leu)	GOLPH3L (P94L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618387	NM_018178.6(GOLPH3L):c.266T>G (p.Ile89Ser)	GOLPH3L (I89S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588499	NM_018178.6(GOLPH3L):c.263G>A (p.Arg88Gln)	GOLPH3L (R88Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348037	NM_018178.6(GOLPH3L):c.210C>G (p.Cys70Trp)	GOLPH3L (C70W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509478	NM_018178.6(GOLPH3L):c.146T>C (p.Met49Thr)	GOLPH3L (M49T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100977	NM_018178.6(GOLPH3L):c.53A>C (p.Glu18Ala)	GOLPH3L (E18A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233656	NM_018178.6(GOLPH3L):c.37A>G (p.Ile13Val)	GOLPH3L (I13V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2334713	NM_018178.6(GOLPH3L):c.32C>G (p.Thr11Ser)	GOLPH3L (T11S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	YY1AP1, CRCT1 +228 more	Duplication	MHC class II deficiency +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 979297	GRCh37/hg19 1q21.3(chr1:150611086-150941270)x1	CTSK, SETDB1 +5 more	Copy number loss	not provided	GUncertain significance
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 393719	GRCh37/hg19 1q21.1-21.3(chr1:143753740-151399970)x3	ACP6, ADAMTSL4 +103 more	Copy number gain	See cases	GPathogenic
Select item 225520	GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3	CIART, LCE2A +154 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 221418	GRCh37/hg19 1q21.3(chr1:150531540-150679158)x3	HORMAD1, MCL1 +3 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 29