IGSF21[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 58056	GRCh38/hg38 1p36.21-36.13(chr1:13619979-18466172)x3	LOC129929515, LOC129929516 +211 more	Copy number gain	See cases	GPathogenic
Select item 57443	GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1	ACTL8, AGMAT +303 more	Copy number loss	See cases	GPathogenic
Select item 149010	GRCh38/hg38 1p36.21-36.13(chr1:15681812-19662339)x1	LOC126805640, LOC126805641 +206 more	Copy number loss	See cases	GPathogenic
Select item 153787	GRCh38/hg38 1p36.13(chr1:17700973-18335637)x3	ACTL8, IGSF21 +7 more	Copy number gain	See cases	GUncertain significance
Select item 150155	GRCh38/hg38 1p36.13(chr1:17722922-18332415)x3	ACTL8, IGSF21 +7 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 147364	GRCh38/hg38 1p36.13(chr1:17742890-18305739)x3	ACTL8, IGSF21 +6 more	Copy number gain	See cases	GUncertain significance
Select item 2396377	NM_032880.5(IGSF21):c.103C>T (p.Pro35Ser)	IGSF21 (P35S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254167	NM_032880.5(IGSF21):c.104C>A (p.Pro35His)	IGSF21 (P35H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402404	NM_032880.5(IGSF21):c.121G>A (p.Ala41Thr)	IGSF21 (A41T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285640	NM_032880.5(IGSF21):c.158G>A (p.Arg53His)	IGSF21 (R53H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381290	NM_032880.5(IGSF21):c.200C>A (p.Thr67Asn)	IGSF21 (T67N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340007	NM_032880.5(IGSF21):c.268C>T (p.Arg90Cys)	IGSF21 (R90C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340009	NM_032880.5(IGSF21):c.269G>T (p.Arg90Leu)	IGSF21 (R90L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594236	NM_032880.5(IGSF21):c.313G>A (p.Glu105Lys)	IGSF21 (E105K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 59918	GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1	EMC1-AS1, FAM43B +221 more	Copy number loss	See cases	GPathogenic
Select item 3285641	NM_032880.5(IGSF21):c.478C>T (p.Arg160Cys)	IGSF21 (R160C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342987	NM_032880.5(IGSF21):c.479G>A (p.Arg160His)	IGSF21 (R160H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108844	NM_032880.5(IGSF21):c.500C>A (p.Thr167Lys)	IGSF21 (T167K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537525	NM_032880.5(IGSF21):c.541G>A (p.Val181Ile)	IGSF21 (V181I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381473	NM_032880.5(IGSF21):c.574G>T (p.Ala192Ser)	IGSF21 (A192S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302939	NM_032880.5(IGSF21):c.584T>C (p.Leu195Pro)	IGSF21 (L195P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622255	NM_032880.5(IGSF21):c.626G>A (p.Ser209Asn)	IGSF21 (S209N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495083	NM_032880.5(IGSF21):c.638G>A (p.Arg213His)	IGSF21 (R213H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230234	NM_032880.5(IGSF21):c.652C>T (p.Arg218Cys)	IGSF21 (R218C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108845	NM_032880.5(IGSF21):c.700G>A (p.Ala234Thr)	IGSF21 (A234T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3108846	NM_032880.5(IGSF21):c.710G>A (p.Arg237Gln)	IGSF21 (R237Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108848	NM_032880.5(IGSF21):c.722C>A (p.Pro241His)	IGSF21 (P241H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786716	NM_032880.5(IGSF21):c.734G>A (p.Arg245His)	IGSF21 (R245H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2347730	NM_032880.5(IGSF21):c.743G>A (p.Arg248His)	IGSF21 (R248H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3285643	NM_032880.5(IGSF21):c.808G>A (p.Val270Met)	IGSF21 (V270M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568878	NM_032880.5(IGSF21):c.838A>G (p.Ser280Gly)	IGSF21 (S280G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282329	NM_032880.5(IGSF21):c.844G>A (p.Glu282Lys)	IGSF21 (E282K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285642	NM_032880.5(IGSF21):c.850A>C (p.Thr284Pro)	IGSF21 (T284P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367907	NM_032880.5(IGSF21):c.872G>A (p.Arg291His)	IGSF21 (R291H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2408461	NM_032880.5(IGSF21):c.940G>C (p.Asp314His)	IGSF21 (D314H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458521	NM_032880.5(IGSF21):c.997C>G (p.Gln333Glu)	IGSF21 (Q333E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108839	NM_032880.5(IGSF21):c.1063G>A (p.Val355Ile)	IGSF21 (V355I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775518	NM_032880.5(IGSF21):c.1136C>T (p.Thr379Met)	IGSF21 (T379M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2514845	NM_032880.5(IGSF21):c.1162G>C (p.Gly388Arg)	IGSF21 (G388R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570291	NM_032880.5(IGSF21):c.1210G>A (p.Ala404Thr)	IGSF21 (A404T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494712	NM_032880.5(IGSF21):c.1271C>T (p.Thr424Met)	IGSF21 (T424M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712990	NM_032880.5(IGSF21):c.1287C>T (p.Ile429=)	IGSF21	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3108841	NM_032880.5(IGSF21):c.1288G>A (p.Val430Met)	IGSF21 (V430M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539261	NM_032880.5(IGSF21):c.1307T>C (p.Ile436Thr)	IGSF21 (I436T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108842	NM_032880.5(IGSF21):c.1319C>T (p.Thr440Met)	IGSF21 (T440M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270075	NM_032880.5(IGSF21):c.1352G>C (p.Gly451Ala)	IGSF21 (G451A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3062822	GRCh37/hg19 1p36.21-36.12(chr1:16194137-20561434)x1	ACTL8, AKR7A2 +58 more	Copy number loss	not specified	GPathogenic
Select item 2685797	GRCh37/hg19 1p36.13(chr1:18127009-20315260)x3	ACTL8, AKR7A2 +22 more	Copy number gain	not provided	GUncertain significance
Select item 2685031	GRCh37/hg19 1p36.13-36.12(chr1:17291707-23016395)x4	ACTL8, AKR7A2 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1809480	GRCh37/hg19 1p36.13(chr1:18628226-18747330)x1	IGSF21	Copy number loss	not provided	GUncertain significance
Select item 1808934	GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1	AADACL3, AADACL4 +143 more	Copy number loss	not provided	GPathogenic
Select item 1340990	GRCh37/hg19 1p36.13(chr1:16773001-20221073)x1	ACTL8, AKR7A2 +38 more	Copy number loss	not provided	GPathogenic
Select item 1228381	GRCh37/hg19 1p36.13-36.12(chr1:16785250-23491592)x1	FAM43B, HP1BP3 +77 more	Copy number loss	1p36.1 deletion syndrome	GPathogenic
Select item 980392	GRCh37/hg19 1p36.21-36.12(chr1:16041431-21295864)x1	EMC1, EPHA2 +73 more	Copy number loss	not provided	GPathogenic
Select item 980391	GRCh37/hg19 1p36.13-36.12(chr1:17284906-21778495)x1	AKR7A3, AKR7L +51 more	Copy number loss	not provided	GPathogenic
Select item 688216	GRCh37/hg19 1p36.13(chr1:18509666-18729171)x1	IGSF21	Copy number loss	not provided	GUncertain significance
Select item 687558	GRCh37/hg19 1p36.13(chr1:18263509-18945211)x4	IGSF21, KLHDC7A	Copy number gain	not provided	GUncertain significance
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 565080	GRCh37/hg19 1p36.13(chr1:17291706-18585289)x3	ACTL8, ARHGEF10L +11 more	Copy number gain	not provided	GUncertain significance
Select item 443113	GRCh37/hg19 1p36.13(chr1:18533280-19051005)x3	IGSF21, KLHDC7A +1 more	Copy number gain	See cases	GUncertain significance
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 394895	GRCh37/hg19 1p36.13(chr1:18016160-18632174)x3	ACTL8, ARHGEF10L +1 more	Copy number gain	See cases	GUncertain significance
Select item 221359	chr1:17555508-24706269 complex variant	ACTL8, AKR7A2 +88 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 69