ClinVar for Gene (Select 54797) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3294046	NM_017638.3(MED18):c.68T>C (p.Leu23Ser)	MED18 (L23S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124999	NM_017638.3(MED18):c.593A>C (p.His198Pro)	MED18 (H198P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124998	NM_017638.3(MED18):c.44C>T (p.Thr15Ile)	MED18 (T15I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124995	NM_017638.3(MED18):c.304G>A (p.Val102Met)	MED18 (V102M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124994	NM_017638.3(MED18):c.257G>A (p.Arg86His)	MED18 (R86H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124993	NM_017638.3(MED18):c.138G>A (p.Met46Ile)	MED18 (M46I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2605015	NM_017638.3(MED18):c.182A>G (p.Lys61Arg)	MED18 (K61R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589030	NM_017638.3(MED18):c.52A>G (p.Met18Val)	MED18 (M18V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538357	NM_017638.3(MED18):c.323T>C (p.Ile108Thr)	MED18 (I108T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534069	NM_017638.3(MED18):c.316G>A (p.Val106Met)	MED18 (V106M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461160	NM_017638.3(MED18):c.433G>C (p.Val145Leu)	MED18 (V145L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409708	NM_017638.3(MED18):c.529G>A (p.Ala177Thr)	MED18 (A177T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389049	NM_017638.3(MED18):c.505G>A (p.Val169Met)	MED18 (V169M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361247	NM_017638.3(MED18):c.409C>T (p.Arg137Cys)	MED18 (R137C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310549	NM_017638.3(MED18):c.54G>C (p.Met18Ile)	MED18 (M18I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304695	NM_017638.3(MED18):c.346G>A (p.Asp116Asn)	MED18 (D116N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244532	NM_017638.3(MED18):c.119G>A (p.Arg40His)	MED18 (R40H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526540	GRCh37/hg19 1p36.11-35.1(chr1:27543877-32819121)	GPR3, PTPRU +66 more	Copy number gain	not specified	GUncertain significance
Select item 1340314	GRCh37/hg19 1p35.3(chr1:28493687-29242679)x1	ATP5IF1, DNAJC8 +14 more	Copy number loss	not provided	GUncertain significance
Select item 713263	NM_017638.3(MED18):c.220C>T (p.Arg74Cys)	MED18 (R74C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 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 253760	GRCh37/hg19 1p35.3(chr1:28292253-28969539)x3	RCC1, EYA3 +12 more	Copy number gain	See cases	GUncertain significance
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 148584	GRCh38/hg38 1p35.3(chr1:28298657-28634562)x1	LOC112577575, LOC112577576 +24 more	Copy number loss	See cases	GUncertain significance
Select item 148510	GRCh38/hg38 1p35.3(chr1:27919199-28607226)x3	ATP5IF1, DNAJC8 +51 more	Copy number gain	See cases	GUncertain significance
Select item 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 29