MARCKSL1[gene] - ClinVar

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

Search results

Items: 24

	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 146124	GRCh38/hg38 1p35.3-35.1(chr1:28424867-33122854)x1	ADGRB2, AK2 +293 more	Copy number loss	See cases	GPathogenic
Select item 59931	GRCh38/hg38 1p35.2-35.1(chr1:30766758-33359428)x1	LOC129929990, LOC129929991 +214 more	Copy number loss	See cases	GPathogenic
Select item 58059	GRCh38/hg38 1p35.2-35.1(chr1:31122108-32402160)x3	LOC129930033, LOC129930034 +117 more	Copy number gain	See cases	GPathogenic
Select item 711823	NM_023009.7(MARCKSL1):c.546G>A (p.Pro182=)	MARCKSL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2602049	NM_023009.7(MARCKSL1):c.472G>T (p.Gly158Trp)	MARCKSL1 (G158W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251308	NM_023009.7(MARCKSL1):c.466G>A (p.Ala156Thr)	MARCKSL1 (A156T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123576	NM_023009.7(MARCKSL1):c.426A>C (p.Glu142Asp)	MARCKSL1 (E142D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278673	NM_023009.7(MARCKSL1):c.394G>C (p.Gly132Arg)	MARCKSL1 (G132R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553304	NM_023009.7(MARCKSL1):c.356C>T (p.Ser119Phe)	MARCKSL1 (S119F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396114	NM_023009.7(MARCKSL1):c.347C>A (p.Ser116Tyr)	MARCKSL1 (S116Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123575	NM_023009.7(MARCKSL1):c.335G>A (p.Gly112Asp)	MARCKSL1 (G112D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617494	NM_023009.7(MARCKSL1):c.334G>A (p.Gly112Ser)	MARCKSL1 (G112S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471471	NM_023009.7(MARCKSL1):c.209C>G (p.Pro70Arg)	MARCKSL1 (P70R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 759273	NM_023009.7(MARCKSL1):c.96C>A (p.Gly32=)	LOC129930037, MARCKSL1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 731485	NM_023009.7(MARCKSL1):c.88-8C>T	LOC129930037, MARCKSL1	Single nucleotide variant (intron variant)	not provided	GBenign
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 814067	GRCh37/hg19 1p35.2-35.1(chr1:30819875-34380419)x3	TMEM54, RBBP4 +51 more	Copy number gain	not provided	GLikely pathogenic
Select item 686004	GRCh37/hg19 1p35.2-35.1(chr1:32139063-32940848)x4	ADGRB2, BSDC1 +19 more	Copy number gain	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 565084	GRCh37/hg19 1p35.1(chr1:32608682-32953541)x3	FAM229A, DCDC2B +13 more	Copy number gain	not provided	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 24