MED18[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	TXLNA, UBXN11 +1145 more	Copy number gain	See cases	GPathogenic
Select item 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	See cases	GPathogenic
Select item 148510	GRCh38/hg38 1p35.3(chr1:27919199-28607226)x3	ATP5IF1, DNAJC8 +51 more	Copy number gain	See cases	GUncertain significance
Select item 148584	GRCh38/hg38 1p35.3(chr1:28298657-28634562)x1	TAF12, TRNAU1AP +24 more	Copy number loss	See cases	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 2589030	NM_017638.3(MED18):c.52A>G (p.Met18Val)	MED18 (M18V)	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 2244532	NM_017638.3(MED18):c.119G>A (p.Arg40His)	MED18 (R40H)	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 2605015	NM_017638.3(MED18):c.182A>G (p.Lys61Arg)	MED18 (K61R)	Single nucleotide variant (missense variant)	not specified	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 3124994	NM_017638.3(MED18):c.257G>A (p.Arg86His)	MED18 (R86H)	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 2534069	NM_017638.3(MED18):c.316G>A (p.Val106Met)	MED18 (V106M)	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 2304695	NM_017638.3(MED18):c.346G>A (p.Asp116Asn)	MED18 (D116N)	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 2461160	NM_017638.3(MED18):c.433G>C (p.Val145Leu)	MED18 (V145L)	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 2409708	NM_017638.3(MED18):c.529G>A (p.Ala177Thr)	MED18 (A177T)	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 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 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +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

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Items: 28