ClinVar for Gene (Select 54810) - ClinVar

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Links from Gene

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3099896	NM_017655.6(GIPC2):c.875A>G (p.Asp292Gly)	GIPC2 (D292G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099894	NM_017655.6(GIPC2):c.236C>G (p.Ser79Trp)	GIPC2 (S79W)	Single nucleotide variant (missense variant +1 more)	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 2685808	GRCh37/hg19 1p31.1(chr1:78421460-79541287)x3	ADGRL4, DNAJB4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 2620776	NM_017655.6(GIPC2):c.596A>G (p.Lys199Arg)	GIPC2 (K199R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552182	NM_017655.6(GIPC2):c.749T>G (p.Ile250Ser)	GIPC2 (I250S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541285	NM_017655.6(GIPC2):c.5C>A (p.Pro2His)	GIPC2 (P2H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466026	NM_017655.6(GIPC2):c.164G>A (p.Gly55Asp)	GIPC2 (G55D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405718	NM_017655.6(GIPC2):c.382G>C (p.Gly128Arg)	GIPC2 (G128R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339724	NM_017655.6(GIPC2):c.676C>T (p.Arg226Cys)	GIPC2 (R226C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324650	NM_017655.6(GIPC2):c.632G>C (p.Gly211Ala)	GIPC2 (G211A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239980	NM_017655.6(GIPC2):c.293G>A (p.Gly98Glu)	GIPC2 (G98E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228357	NM_017655.6(GIPC2):c.755A>G (p.Asp252Gly)	GIPC2 (D252G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808070	GRCh37/hg19 1p31.1(chr1:78356361-78648139)x3	DNAJB4, FUBP1 +2 more	Copy number gain	not provided	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 979895	GRCh37/hg19 1p31.1(chr1:78537475-78816684)x3	GIPC2	Copy number gain	not provided	GUncertain significance
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 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: 31