SPAG9[gene] - ClinVar

Search results

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 59589	GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)x1	ABCC3, ABI3 +203 more	Copy number loss	See cases	GPathogenic
Select item 59590	GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)x1	ABCC3, ACSF2 +196 more	Copy number loss	See cases	GPathogenic
Select item 3321810	NM_001130528.3(SPAG9):c.3888T>A (p.Asp1296Glu)	SPAG9 (D1282E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168114	NM_001130528.3(SPAG9):c.3874C>T (p.Leu1292Phe)	SPAG9 (L1282F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321809	NM_001130528.3(SPAG9):c.3845G>A (p.Arg1282Gln)	SPAG9 (R1138Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297302	NM_001130528.3(SPAG9):c.3805A>G (p.Met1269Val)	SPAG9 (M1259V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351441	NM_001130528.3(SPAG9):c.3775G>A (p.Glu1259Lys)	SPAG9 (E1115K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168113	NM_001130528.3(SPAG9):c.3733G>A (p.Gly1245Ser)	SPAG9 (G1101S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328975	NM_001130528.3(SPAG9):c.3671A>T (p.Asp1224Val)	SPAG9 (D1214V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241660	NM_001130528.3(SPAG9):c.3667C>T (p.Arg1223Trp)	SPAG9 (R1223W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474287	NM_001130528.3(SPAG9):c.3659A>G (p.His1220Arg)	SPAG9 (H1076R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333603	NM_001130528.3(SPAG9):c.3571C>T (p.Arg1191Cys)	SPAG9 (R1177C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410385	NM_001130528.3(SPAG9):c.3539G>A (p.Gly1180Asp)	SPAG9 (G1036D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168111	NM_001130528.3(SPAG9):c.3494G>C (p.Gly1165Ala)	SPAG9 (G1155A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168110	NM_001130528.3(SPAG9):c.3286G>A (p.Ala1096Thr)	SPAG9 (A1082T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320977	NM_001130528.3(SPAG9):c.3133C>T (p.Arg1045Trp)	SPAG9 (R1035W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717062	NM_001130528.3(SPAG9):c.3114T>C (p.Tyr1038=)	SPAG9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 722228	NM_001130528.3(SPAG9):c.3088+10G>A	SPAG9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2455297	NM_001130528.3(SPAG9):c.3085G>T (p.Val1029Leu)	SPAG9 (V1029L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488985	NM_001130528.3(SPAG9):c.3070A>G (p.Ile1024Val)	SPAG9 (I1014V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293673	NM_001130528.3(SPAG9):c.3004T>G (p.Ser1002Ala)	SPAG9 (S1002A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406951	NM_001130528.3(SPAG9):c.2882A>C (p.Glu961Ala)	SPAG9 (E804A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747599	NM_001130528.3(SPAG9):c.2813+6A>G	SPAG9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3168109	NM_001130528.3(SPAG9):c.2797C>G (p.Pro933Ala)	SPAG9 (P919A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305828	NM_001130528.3(SPAG9):c.2790C>A (p.Asp930Glu)	SPAG9 (D773E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619822	NM_001130528.3(SPAG9):c.2780T>C (p.Ile927Thr)	SPAG9 (I770T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320183	NM_001130528.3(SPAG9):c.2777A>G (p.Gln926Arg)	SPAG9 (Q926R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530189	NM_001130528.3(SPAG9):c.2756T>G (p.Phe919Cys)	SPAG9 (F919C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231471	NM_001130528.3(SPAG9):c.2690G>A (p.Gly897Glu)	SPAG9 (G887E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168108	NM_001130528.3(SPAG9):c.2651A>G (p.Asn884Ser)	SPAG9 (N874S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168107	NM_001130528.3(SPAG9):c.2642T>C (p.Val881Ala)	SPAG9 (V871A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466407	NM_001130528.3(SPAG9):c.2599G>T (p.Val867Leu)	SPAG9 (V853L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265755	NM_001130528.3(SPAG9):c.2575C>A (p.Pro859Thr)	SPAG9 (P849T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168105	NM_001130528.3(SPAG9):c.2558C>T (p.Thr853Met)	SPAG9 (T696M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168104	NM_001130528.3(SPAG9):c.2383A>G (p.Ile795Val)	SPAG9 (I638V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717063	NM_001130528.3(SPAG9):c.2377C>T (p.Leu793=)	SPAG9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3168103	NM_001130528.3(SPAG9):c.2371C>T (p.His791Tyr)	SPAG9 (H634Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357598	NM_001130528.3(SPAG9):c.2366A>G (p.Asn789Ser)	SPAG9 (N779S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168102	NM_001130528.3(SPAG9):c.2293C>T (p.His765Tyr)	SPAG9 (H608Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781370	NM_001130528.3(SPAG9):c.2226+9G>A	SPAG9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2626961	NM_001130528.3(SPAG9):c.2191C>T (p.Gln731Ter)	SPAG9 (Q574* +3 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2314430	NM_001130528.3(SPAG9):c.2161A>C (p.Thr721Pro)	SPAG9 (T711P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301897	NM_001130528.3(SPAG9):c.2083T>G (p.Leu695Val)	SPAG9 (L685V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376730	NM_001130528.3(SPAG9):c.2081A>G (p.Asn694Ser)	SPAG9 (N680S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747600	NM_001130528.3(SPAG9):c.2058+9A>T	SPAG9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3168101	NM_001130528.3(SPAG9):c.2017G>A (p.Val673Ile)	SPAG9 (V516I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233806	NM_001130528.3(SPAG9):c.1948C>A (p.Leu650Met)	SPAG9 (L640M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285180	NM_001130528.3(SPAG9):c.1921G>A (p.Gly641Ser)	SPAG9 (G484S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168100	NM_001130528.3(SPAG9):c.1889G>A (p.Arg630His)	SPAG9 (R616H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289783	NM_001130528.3(SPAG9):c.1853T>C (p.Leu618Ser)	SPAG9 (L604S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236289	NM_001130528.3(SPAG9):c.1846G>T (p.Ala616Ser)	SPAG9 (A602S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367061	NM_001130528.3(SPAG9):c.1811C>A (p.Ser604Tyr)	SPAG9 (S590Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321808	NM_001130528.3(SPAG9):c.1795C>T (p.Leu599Phe)	SPAG9 (L589F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 795913	NM_001130528.3(SPAG9):c.1746G>A (p.Thr582=)	SPAG9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2560535	NM_001130528.3(SPAG9):c.1745C>T (p.Thr582Met)	SPAG9 (T568M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555873	NM_001130528.3(SPAG9):c.1625C>T (p.Pro542Leu)	SPAG9 (P528L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791456	NM_001130528.3(SPAG9):c.1476+10C>T	SPAG9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3168099	NM_001130528.3(SPAG9):c.1471G>A (p.Asp491Asn)	SPAG9 (D491N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305569	NM_001130528.3(SPAG9):c.1466A>T (p.Asp489Val)	SPAG9 (D332V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311829	NM_001130528.3(SPAG9):c.1446T>G (p.Asp482Glu)	SPAG9 (D325E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326054	NM_001130528.3(SPAG9):c.1400G>A (p.Arg467Lys)	SPAG9 (R310K +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2483538	NM_001130528.3(SPAG9):c.1223G>A (p.Arg408Gln)	SPAG9 (R408Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279225	NM_001130528.3(SPAG9):c.1156C>G (p.Leu386Val)	SPAG9 (L229V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256889	NM_001130528.3(SPAG9):c.1085G>A (p.Gly362Asp)	SPAG9 (G205D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247504	NM_001130528.3(SPAG9):c.965C>A (p.Ala322Asp)	SPAG9 (A322D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168119	NM_001130528.3(SPAG9):c.955G>A (p.Val319Ile)	SPAG9 (V162I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297231	NM_001130528.3(SPAG9):c.950T>C (p.Ile317Thr)	SPAG9 (I160T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168118	NM_001130528.3(SPAG9):c.925A>G (p.Asn309Asp)	SPAG9 (N309D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268929	NM_001130528.3(SPAG9):c.904G>T (p.Val302Leu)	SPAG9 (V288L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321806	NM_001130528.3(SPAG9):c.902T>C (p.Phe301Ser)	SPAG9 (F144S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168117	NM_001130528.3(SPAG9):c.895G>A (p.Glu299Lys)	SPAG9 (E299K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345817	NM_001130528.3(SPAG9):c.859A>G (p.Thr287Ala)	SPAG9 (T130A +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2336971	NM_001130528.3(SPAG9):c.857C>T (p.Ala286Val)	SPAG9 (A129V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321805	NM_001130528.3(SPAG9):c.854T>C (p.Val285Ala)	SPAG9 (V128A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305773	NM_001130528.3(SPAG9):c.761C>T (p.Pro254Leu)	SPAG9 (P254L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341390	NM_001130528.3(SPAG9):c.722G>A (p.Arg241His)	SPAG9 (R241H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592242	NM_001130528.3(SPAG9):c.721C>T (p.Arg241Cys)	SPAG9 (R241C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 689672	NM_001130528.3(SPAG9):c.650C>T (p.Thr217Ile)	SPAG9 (T217I +1 more)	Single nucleotide variant (missense variant)	Marfanoid habitus and intellectual disability	GUncertain significance
Select item 3168116	NM_001130528.3(SPAG9):c.581G>A (p.Ser194Asn)	SPAG9 (S194N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321807	NM_001130528.3(SPAG9):c.568T>G (p.Ser190Ala)	SPAG9 (S190A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236554	NM_001130528.3(SPAG9):c.505A>C (p.Asn169His)	SPAG9 (N169H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168115	NM_001130528.3(SPAG9):c.427A>G (p.Ser143Gly)	SPAG9 (S143G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168112	NM_001130528.3(SPAG9):c.368C>T (p.Ser123Phe)	SPAG9 (S123F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302789	NM_001130528.3(SPAG9):c.336G>C (p.Gln112His)	SPAG9 (Q112H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333046	NM_001130528.3(SPAG9):c.316T>C (p.Phe106Leu)	SPAG9 (F106L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242809	NM_001130528.3(SPAG9):c.67C>T (p.Arg23Trp)	SPAG9 (R23W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242218	Single allele	KIF18B, LPO +196 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 444852	GRCh37/hg19 17q21.32-22(chr17:46481089-51396368)x1	HOXB3, HOXB4 +67 more	Copy number loss	not provided	GLikely pathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 394158	GRCh37/hg19 17q21.33-23.2(chr17:49076980-58740945)x3	AKAP1, ANKFN1 +65 more	Copy number gain	See cases	GPathogenic

ClinVar

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Items: 95