ClinVar for Gene (Select 374986) - ClinVar

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Links from Gene

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3126465	NM_001416120.1(MIGA1):c.-65G>C	MIGA1 (S11T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126463	NM_001416120.1(MIGA1):c.1594C>A (p.Leu532Ile)	MIGA1 (L504I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024572	GRCh37/hg19 1p31.1-22.3(chr1:73616197-87012961)x1	ACADM, ADGRL2 +52 more	Copy number loss	not provided	GLikely pathogenic
Select item 2358364	NM_001416120.1(MIGA1):c.283A>G (p.Ser95Gly)	MIGA1 (S99G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259608	NM_001416120.1(MIGA1):c.1263A>C (p.Glu421Asp)	MIGA1 (E393D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250045	NM_001416120.1(MIGA1):c.545T>C (p.Met182Thr)	MIGA1 (M176T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215750	NM_001416120.1(MIGA1):c.1501A>G (p.Ile501Val)	MIGA1 (I534V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212693	NM_001416120.1(MIGA1):c.247G>C (p.Glu83Gln)	MIGA1 (E115Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707456	Single allele	ACADM, AK5 +188 more	Duplication	not specified	GUncertain significance
Select item 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	GPathogenic
Select item 814105	GRCh37/hg19 1p31.1(chr1:78257937-79159519)x3	MIGA1, NEXN +6 more	Copy number gain	not provided	GUncertain significance
Select item 686509	GRCh37/hg19 1p31.1(chr1:78186240-81611776)x3	ADGRL4, DNAJB4 +8 more	Copy number gain	not provided	GUncertain significance
Select item 686133	GRCh37/hg19 1p31.1(chr1:78186240-81611776)x3	ADGRL4, DNAJB4 +8 more	Copy number gain	not provided	GUncertain significance
Select item 685733	GRCh37/hg19 1p31.3-22.3(chr1:67851233-86101340)x1	ACADM, ADGRL2 +65 more	Copy number loss	not provided	GPathogenic
Select item 684460	Single allele	ACADM, ADGRL2 +85 more	Deletion	not provided	Gnot provided
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 442805	GRCh37/hg19 1p31.1(chr1:77823556-78281638)x1	AK5, MIGA1 +2 more	Copy number loss	See cases	GUncertain significance
Select item 442708	GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1	ACADM, ADGRL2 +94 more	Copy number loss	See cases	GPathogenic
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 441908	GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)x1	ACADM, ADGRL2 +80 more	Copy number loss	See cases	GPathogenic
Select item 441757	GRCh37/hg19 1p31.1(chr1:74848936-80324850)x3	ACADM, ADGRL4 +24 more	Copy number gain	See cases	GUncertain significance
Select item 441647	GRCh37/hg19 1p31.3-31.1(chr1:61351024-79583933)x1	ACADM, ADGRL4 +78 more	Copy number loss	See cases	GPathogenic
Select item 152108	GRCh38/hg38 1p31.1(chr1:77777821-79122486)x1	ADGRL4, DNAJB4 +33 more	Copy number loss	See cases	GUncertain significance
Select item 150045	GRCh38/hg38 1p31.1-22.2(chr1:76419302-88628464)x1	ADGRL2, ADGRL4 +241 more	Copy number loss	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	MIGA1, MIR101-1 +558 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 26