ClinVar for Gene (Select 374955) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3321879	NM_198546.1(SPATA21):c.220G>C (p.Gly74Arg)	SPATA21 (G51R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321878	NM_198546.1(SPATA21):c.450A>T (p.Glu150Asp)	SPATA21 (E150D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321877	NM_198546.1(SPATA21):c.470C>T (p.Pro157Leu)	SPATA21 (P134L +1 more)	Single nucleotide variant (missense variant +1 more)	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 3239590	NM_198546.1(SPATA21):c.35-3135T>C	SPATA21	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 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 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 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 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 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 3062822	GRCh37/hg19 1p36.21-36.12(chr1:16194137-20561434)x1	ACTL8, AKR7A2 +58 more	Copy number loss	not specified	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 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 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
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 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 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 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 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 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 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 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 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 777887	NM_198546.1(SPATA21):c.1353-7_1353-6del	SPATA21	Microsatellite (intron variant)	not provided	GBenign
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	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	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 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
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 149010	GRCh38/hg38 1p36.21-36.13(chr1:15681812-19662339)x1	LOC126805640, LOC126805641 +206 more	Copy number loss	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 59894	GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1	LOC112577504, LOC112577505 +316 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 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 59