ClinVar for Gene (Select 90853) - ClinVar

Links from Gene

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3322322	NM_144569.7(SPOCD1):c.2267T>C (p.Leu756Pro)	SPOCD1 (L756P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322321	NM_144569.7(SPOCD1):c.428C>T (p.Pro143Leu)	SPOCD1 (P143L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322320	NM_144569.7(SPOCD1):c.675C>G (p.Phe225Leu)	SPOCD1 (F225L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322319	NM_144569.7(SPOCD1):c.1841G>A (p.Arg614His)	SPOCD1 (R107H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3322318	NM_144569.7(SPOCD1):c.1056T>G (p.Asp352Glu)	SPOCD1 (D352E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322317	NM_144569.7(SPOCD1):c.742G>A (p.Asp248Asn)	SPOCD1 (D248N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322316	NM_144569.7(SPOCD1):c.2864G>A (p.Arg955His)	SPOCD1 (R219H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322315	NM_144569.7(SPOCD1):c.2918C>T (p.Ala973Val)	SPOCD1 (A279V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322314	NM_144569.7(SPOCD1):c.3383C>A (p.Pro1128Gln)	SPOCD1 (P1128Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322313	NM_144569.7(SPOCD1):c.3451C>G (p.Arg1151Gly)	SPOCD1 (R444G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322312	NM_144569.7(SPOCD1):c.1239C>A (p.Phe413Leu)	SPOCD1 (F413L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3169272	NM_144569.7(SPOCD1):c.995C>T (p.Ala332Val)	SPOCD1 (A332V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3169271	NM_144569.7(SPOCD1):c.994G>A (p.Ala332Thr)	SPOCD1 (A332T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169270	NM_144569.7(SPOCD1):c.908C>G (p.Pro303Arg)	SPOCD1 (P303R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169269	NM_144569.7(SPOCD1):c.688C>G (p.Gln230Glu)	SPOCD1 (Q230E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169267	NM_144569.7(SPOCD1):c.3646G>T (p.Ala1216Ser)	SPOCD1 (A1216S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169266	NM_144569.7(SPOCD1):c.3334C>T (p.Pro1112Ser)	SPOCD1 (P1112S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169265	NM_144569.7(SPOCD1):c.2242G>A (p.Asp748Asn)	SPOCD1 (D241N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169264	NM_144569.7(SPOCD1):c.1808C>T (p.Ser603Phe)	SPOCD1 (S96F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169263	NM_144569.7(SPOCD1):c.1615T>C (p.Ser539Pro)	SPOCD1 (S32P +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3169262	NM_144569.7(SPOCD1):c.1307G>A (p.Arg436Gln)	SPOCD1 (R436Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3169261	NM_144569.7(SPOCD1):c.1225T>A (p.Cys409Ser)	SPOCD1 (C409S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169259	NM_144569.7(SPOCD1):c.1205A>T (p.Asp402Val)	SPOCD1 (D402V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169258	NM_144569.7(SPOCD1):c.11C>T (p.Ala4Val)	SPOCD1 (A4V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2626780	NM_144569.7(SPOCD1):c.1991_1992del (p.Arg664fs)	SPOCD1 (R157fs +1 more)	Deletion (frameshift variant +1 more)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2626779	NM_144569.7(SPOCD1):c.3354_3355insA (p.Gln1119fs)	SPOCD1 (Q1106fs +4 more)	Insertion (frameshift variant +1 more)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2626778	NM_144569.7(SPOCD1):c.2912T>G (p.Leu971Arg)	SPOCD1 (L464R +3 more)	Single nucleotide variant (missense variant +1 more)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2612435	NM_144569.7(SPOCD1):c.1376C>G (p.Pro459Arg)	SPOCD1 (P459R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612324	NM_144569.7(SPOCD1):c.2201A>T (p.Lys734Ile)	SPOCD1 (K40I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599139	NM_144569.7(SPOCD1):c.212G>A (p.Arg71Gln)	SPOCD1 (R71Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2595224	NM_144569.7(SPOCD1):c.3191C>T (p.Pro1064Leu)	SPOCD1 (P1064L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593683	NM_144569.7(SPOCD1):c.3451C>T (p.Arg1151Trp)	SPOCD1 (R1138W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590520	NM_144569.7(SPOCD1):c.461C>A (p.Ala154Glu)	SPOCD1 (A154E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589529	NM_144569.7(SPOCD1):c.629G>A (p.Arg210Lys)	SPOCD1 (R210K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589354	NM_144569.7(SPOCD1):c.1763C>T (p.Pro588Leu)	SPOCD1 (P588L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2588422	NM_144569.7(SPOCD1):c.3353G>A (p.Arg1118His)	SPOCD1 (R598H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2562463	NM_144569.7(SPOCD1):c.317C>T (p.Ser106Leu)	SPOCD1 (S106L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2561533	NM_144569.7(SPOCD1):c.2597C>A (p.Pro866His)	SPOCD1 (P130H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556897	NM_144569.7(SPOCD1):c.110G>T (p.Gly37Val)	SPOCD1 (G37V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555030	NM_144569.7(SPOCD1):c.2971G>A (p.Ala991Thr)	SPOCD1 (A991T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552669	NM_144569.7(SPOCD1):c.727C>A (p.Pro243Thr)	SPOCD1 (P243T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543945	NM_144569.7(SPOCD1):c.3205T>G (p.Trp1069Gly)	SPOCD1 (W1056G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528341	NM_144569.7(SPOCD1):c.2293T>C (p.Cys765Arg)	SPOCD1 (C71R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518493	NM_144569.7(SPOCD1):c.1832C>T (p.Thr611Ile)	SPOCD1 (T104I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514756	NM_144569.7(SPOCD1):c.3352C>T (p.Arg1118Cys)	SPOCD1 (R369C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2495913	NM_144569.7(SPOCD1):c.1399C>G (p.Pro467Ala)	SPOCD1 (P467A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483941	NM_144569.7(SPOCD1):c.3188C>T (p.Pro1063Leu)	SPOCD1 (P314L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472642	NM_144569.7(SPOCD1):c.242G>A (p.Gly81Glu)	SPOCD1 (G81E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2458843	NM_144569.7(SPOCD1):c.868G>A (p.Ala290Thr)	SPOCD1 (A290T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458316	NM_144569.7(SPOCD1):c.1171C>T (p.Arg391Trp)	SPOCD1 (R391W)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2457763	NM_144569.7(SPOCD1):c.3325G>A (p.Gly1109Arg)	SPOCD1 (G1109R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454643	NM_144569.7(SPOCD1):c.3422G>A (p.Arg1141Lys)	SPOCD1 (R1128K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411707	NM_144569.7(SPOCD1):c.1873C>T (p.Arg625Trp)	SPOCD1 (R118W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397061	NM_144569.7(SPOCD1):c.3586C>T (p.Arg1196Cys)	SPOCD1 (R447C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385208	NM_144569.7(SPOCD1):c.1216A>G (p.Ser406Gly)	SPOCD1 (S406G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384931	NM_144569.7(SPOCD1):c.877G>C (p.Asp293His)	SPOCD1 (D293H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380308	NM_144569.7(SPOCD1):c.1931T>C (p.Ile644Thr)	SPOCD1 (I137T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380307	NM_144569.7(SPOCD1):c.1364C>T (p.Pro455Leu)	SPOCD1 (P455L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2379009	NM_144569.7(SPOCD1):c.3238C>T (p.Pro1080Ser)	SPOCD1 (P1067S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376767	NM_144569.7(SPOCD1):c.620A>G (p.Lys207Arg)	SPOCD1 (K207R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376482	NM_144569.7(SPOCD1):c.1480G>C (p.Gly494Arg)	SPOCD1 (G494R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367117	NM_144569.7(SPOCD1):c.1840C>T (p.Arg614Cys)	SPOCD1 (R614C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354462	NM_144569.7(SPOCD1):c.148G>A (p.Gly50Arg)	SPOCD1 (G50R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2354459	NM_144569.7(SPOCD1):c.3542G>A (p.Arg1181His)	SPOCD1 (R661H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2344004	NM_144569.7(SPOCD1):c.2783G>C (p.Cys928Ser)	SPOCD1 (C234S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342505	NM_144569.7(SPOCD1):c.2852A>G (p.Asn951Ser)	SPOCD1 (N951S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342100	NM_144569.7(SPOCD1):c.866C>G (p.Pro289Arg)	SPOCD1 (P289R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312787	NM_144569.7(SPOCD1):c.1090C>A (p.Leu364Met)	SPOCD1 (L364M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304832	NM_144569.7(SPOCD1):c.1240A>G (p.Met414Val)	SPOCD1 (M414V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301211	NM_144569.7(SPOCD1):c.161G>T (p.Gly54Val)	SPOCD1 (G54V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301100	NM_144569.7(SPOCD1):c.562G>A (p.Glu188Lys)	SPOCD1 (E188K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286898	NM_144569.7(SPOCD1):c.1885G>C (p.Asp629His)	SPOCD1 (D629H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272917	NM_144569.7(SPOCD1):c.1264A>T (p.Thr422Ser)	SPOCD1 (T422S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272545	NM_144569.7(SPOCD1):c.3587G>A (p.Arg1196His)	SPOCD1 (R1196H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243760	NM_144569.7(SPOCD1):c.2800C>T (p.Pro934Ser)	SPOCD1 (P240S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234821	NM_144569.7(SPOCD1):c.908C>T (p.Pro303Leu)	SPOCD1 (P303L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232638	NM_144569.7(SPOCD1):c.521C>A (p.Ser174Tyr)	SPOCD1 (S174Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231254	NM_144569.7(SPOCD1):c.3505C>T (p.Pro1169Ser)	SPOCD1 (P420S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223613	NM_144569.7(SPOCD1):c.3460G>A (p.Glu1154Lys)	SPOCD1 (E1141K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215470	NM_144569.7(SPOCD1):c.1141G>A (p.Ala381Thr)	SPOCD1 (A381T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214395	NM_144569.7(SPOCD1):c.235C>T (p.Arg79Trp)	SPOCD1 (R79W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208873	NM_144569.7(SPOCD1):c.2531A>G (p.Asp844Gly)	SPOCD1 (D150G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526540	GRCh37/hg19 1p36.11-35.1(chr1:27543877-32819121)	GPR3, PTPRU +66 more	Copy number gain	not specified	GUncertain significance
Select item 814067	GRCh37/hg19 1p35.2-35.1(chr1:30819875-34380419)x3	TMEM54, RBBP4 +51 more	Copy number gain	not provided	GLikely pathogenic
Select item 786757	NM_144569.7(SPOCD1):c.1557C>T (p.Leu519=)	SPOCD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 775531	NM_144569.7(SPOCD1):c.732C>G (p.Pro244=)	SPOCD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 717760	NM_144569.7(SPOCD1):c.745C>G (p.Leu249Val)	SPOCD1 (L249V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 686004	GRCh37/hg19 1p35.2-35.1(chr1:32139063-32940848)x4	ADGRB2, BSDC1 +19 more	Copy number gain	not provided	GUncertain significance
Select item 685990	GRCh37/hg19 1p35.2(chr1:32090118-32280833)x3	ADGRB2, COL16A1 +3 more	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 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 154853	GRCh38/hg38 1p35.2(chr1:30864842-32021241)x3	ADGRB2, COL16A1 +78 more	Copy number gain	See cases	GUncertain significance
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 146124	GRCh38/hg38 1p35.3-35.1(chr1:28424867-33122854)x1	LOC129929998, LOC129929999 +293 more	Copy number loss	See cases	GPathogenic
Select item 59931	GRCh38/hg38 1p35.2-35.1(chr1:30766758-33359428)x1	A3GALT2, ADGRB2 +214 more	Copy number loss	See cases	GPathogenic
Select item 58059	GRCh38/hg38 1p35.2-35.1(chr1:31122108-32402160)x3	LOC129930033, LOC129930034 +117 more	Copy number gain	See cases	GPathogenic
Select item 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	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: 99