SPATA21[gene] - ClinVar

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Items: 54

	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 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	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 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 59892	GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	AADACL3, AADACL4 +337 more	Copy number loss	See cases	GPathogenic
Select item 59894	GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1	LOC112577504, LOC112577505 +316 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 146292	GRCh38/hg38 1p36.21-36.13(chr1:15052047-16499873)x1	AGMAT, ARHGEF19 +112 more	Copy number loss	See cases	GLikely pathogenic
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 777887	NM_198546.1(SPATA21):c.1353-7_1353-6del	SPATA21	Microsatellite (intron variant)	not provided	GBenign
Select item 3168273	NM_198546.1(SPATA21):c.1277T>C (p.Leu426Pro)	SPATA21 (L403P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168270	NM_198546.1(SPATA21):c.1274C>T (p.Ala425Val)	SPATA21 (A402V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2493971	NM_198546.1(SPATA21):c.1141A>T (p.Ser381Cys)	SPATA21 (S358C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319098	NM_198546.1(SPATA21):c.1129C>G (p.Arg377Gly)	SPATA21 (R354G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168269	NM_198546.1(SPATA21):c.1097C>A (p.Pro366His)	SPATA21 (P343H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514263	NM_198546.1(SPATA21):c.1096C>T (p.Pro366Ser)	SPATA21 (P343S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304831	NM_198546.1(SPATA21):c.1095C>A (p.Asn365Lys)	SPATA21 (N342K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264240	NM_198546.1(SPATA21):c.1093A>G (p.Asn365Asp)	SPATA21 (N365D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458891	NM_198546.1(SPATA21):c.1002C>G (p.Asn334Lys)	SPATA21 (N334K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291495	NM_198546.1(SPATA21):c.1000A>G (p.Asn334Asp)	SPATA21 (N334D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282002	NM_198546.1(SPATA21):c.989A>G (p.Glu330Gly)	SPATA21 (E307G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294534	NM_198546.1(SPATA21):c.904A>G (p.Met302Val)	SPATA21 (M302V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168280	NM_198546.1(SPATA21):c.755G>T (p.Gly252Val)	SPATA21 (G252V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528312	NM_198546.1(SPATA21):c.685T>G (p.Tyr229Asp)	SPATA21 (Y229D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207179	NM_198546.1(SPATA21):c.682A>G (p.Ser228Gly)	SPATA21 (S205G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168279	NM_198546.1(SPATA21):c.634G>C (p.Glu212Gln)	SPATA21 (E189Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515897	NM_198546.1(SPATA21):c.632G>A (p.Arg211Gln)	SPATA21 (R211Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168278	NM_198546.1(SPATA21):c.559G>A (p.Glu187Lys)	SPATA21 (E164K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458606	NM_198546.1(SPATA21):c.538G>A (p.Glu180Lys)	SPATA21 (E157K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547778	NM_198546.1(SPATA21):c.508C>A (p.Pro170Thr)	SPATA21 (P170T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597243	NM_198546.1(SPATA21):c.419C>T (p.Ser140Leu)	SPATA21 (S140L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168277	NM_198546.1(SPATA21):c.416C>T (p.Pro139Leu)	SPATA21 (P116L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260153	NM_198546.1(SPATA21):c.361C>A (p.Pro121Thr)	SPATA21 (P121T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602008	NM_198546.1(SPATA21):c.338C>T (p.Ser113Leu)	SPATA21 (S113L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168276	NM_198546.1(SPATA21):c.280A>G (p.Lys94Glu)	SPATA21 (K71E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3168275	NM_198546.1(SPATA21):c.244C>T (p.Arg82Trp)	SPATA21 (R59W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366649	NM_198546.1(SPATA21):c.239A>G (p.Asn80Ser)	SPATA21 (N57S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509357	NM_198546.1(SPATA21):c.230G>A (p.Ser77Asn)	SPATA21 (S77N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2623114	NM_198546.1(SPATA21):c.215C>T (p.Ala72Val)	SPATA21 (A49V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168274	NM_198546.1(SPATA21):c.209C>T (p.Ala70Val)	SPATA21 (A47V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2562922	NM_198546.1(SPATA21):c.155A>C (p.Asp52Ala)	SPATA21 (D29A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570181	NM_198546.1(SPATA21):c.140C>T (p.Pro47Leu)	SPATA21 (P47L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
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 1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	AJAP1, KAZN +228 more	Copy number loss	not provided	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 686997	GRCh37/hg19 1p36.21-36.13(chr1:16096742-16725355)x1	ARHGEF19, CLCNKA +12 more	Copy number loss	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 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 221357	chr1:909238-16736132 complex variant	RER1, RERE +212 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: 54