MAD2L1[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	ABHD18, ADAD1 +661 more	Copy number gain	See cases	GPathogenic
Select item 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	ABCE1, ABHD18 +420 more	Copy number loss	See cases	GPathogenic
Select item 155140	GRCh38/hg38 4q26-28.3(chr4:117351881-133565667)x1	ABHD18, ADAD1 +254 more	Copy number loss	See cases	GPathogenic
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 149894	GRCh38/hg38 4q26-27(chr4:118360303-120924156)x1	C4orf3, FABP2 +48 more	Copy number loss	See cases	GPathogenic
Select item 60197	GRCh38/hg38 4q26-27(chr4:119471669-120176948)x1	LINC01365, LINC02502 +11 more	Copy number loss	See cases	GUncertain significance
Select item 2539636	NM_002358.4(MAD2L1):c.613G>A (p.Asp205Asn)	MAD2L1 (D205N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782943	NM_002358.4(MAD2L1):c.568A>G (p.Ile190Val)	MAD2L1 (I190V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3121966	NM_002358.4(MAD2L1):c.376G>A (p.Asp126Asn)	MAD2L1 (D126N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624283	NM_002358.4(MAD2L1):c.359C>G (p.Ser120Cys)	MAD2L1 (S120C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121965	NM_002358.4(MAD2L1):c.268A>G (p.Asn90Asp)	MAD2L1 (N90D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314971	NM_002358.4(MAD2L1):c.131C>T (p.Thr44Ile)	MAD2L1 (T44I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337132	NM_002358.4(MAD2L1):c.113A>G (p.Tyr38Cys)	MAD2L1 (Y38C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655056	NM_002358.4(MAD2L1):c.54A>G (p.Glu18=)	MAD2L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655057	NM_002358.4(MAD2L1):c.37C>T (p.Leu13=)	MAD2L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2490789	NM_002358.4(MAD2L1):c.31A>G (p.Ile11Val)	MAD2L1 (I11V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655058	NM_002358.4(MAD2L1):c.30A>C (p.Gly10=)	MAD2L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2481387	NM_002358.4(MAD2L1):c.28G>A (p.Gly10Arg)	MAD2L1 (G10R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655059	NM_002358.4(MAD2L1):c.27G>A (p.Gln9=)	MAD2L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	DDX60L, MTHFD2L +537 more	Copy number gain	not provided	GPathogenic
Select item 2685988	GRCh37/hg19 4q26-27(chr4:120455848-121008760)x3	MAD2L1, PDE5A	Copy number gain	not provided	GUncertain significance
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	PLK4, TRPC3 +153 more	Copy number gain	not provided	GPathogenic
Select item 1527120	GRCh37/hg19 4q26-27(chr4:119902254-121463237)	C4orf3, FABP2 +5 more	Copy number gain	not specified	GUncertain significance
Select item 1527119	GRCh37/hg19 4q26-28.2(chr4:116888785-129649979)	ABHD18, ADAD1 +40 more	Copy number loss	not specified	GPathogenic
Select item 1527114	GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	ABHD18, ADAD1 +123 more	Copy number gain	not specified	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 1328453	GRCh37/hg19 4q26-28.3(chr4:114872547-138005267)x1	ABHD18, ADAD1 +48 more	Copy number loss	not provided	GPathogenic
Select item 1047888	GRCh37/hg19 4q26-28.2(chr4:116833638-130232122)	FGF2, HSPA4L +43 more	Copy number loss	Delayed speech and language development +1 more	GPathogenic
Select item 686282	GRCh37/hg19 4q26-27(chr4:120418423-120991396)x1	MAD2L1, PDE5A	Copy number loss	not provided	GUncertain significance
Select item 635942	Single allele	ADAD1, ANKRD50 +31 more	Deletion	Neurodevelopmental disorder	GLikely pathogenic
Select item 562959	GRCh37/hg19 4q26-28.2(chr4:116307857-129302960)x1	ABHD18, ADAD1 +40 more	Copy number loss	not provided	GPathogenic
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	LRBA, LRIT3 +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	HELT, HERC3 +744 more	Copy number gain	See cases	GPathogenic
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	AADAT, ABCE1 +218 more	Copy number gain	See cases	GPathogenic

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Items: 38