ClinVar for Gene (Select 9043) - ClinVar

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

Links from Gene

Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 3168116	NM_001130528.3(SPAG9):c.581G>A (p.Ser194Asn)	SPAG9 (S194N)	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 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 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 3168112	NM_001130528.3(SPAG9):c.368C>T (p.Ser123Phe)	SPAG9 (S123F)	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 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 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 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 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 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 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 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 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 2626961	NM_001130528.3(SPAG9):c.2191C>T (p.Gln731Ter)	SPAG9 (Q574* +3 more)	Single nucleotide variant (nonsense)	not provided	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2333046	NM_001130528.3(SPAG9):c.316T>C (p.Phe106Leu)	SPAG9 (F106L)	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 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 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 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 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 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 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 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 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 2302789	NM_001130528.3(SPAG9):c.336G>C (p.Gln112His)	SPAG9 (Q112H)	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 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 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 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 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 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 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 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 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 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 2242809	NM_001130528.3(SPAG9):c.67C>T (p.Arg23Trp)	SPAG9 (R23W)	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 2236554	NM_001130528.3(SPAG9):c.505A>C (p.Asn169His)	SPAG9 (N169H)	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 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 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 795913	NM_001130528.3(SPAG9):c.1746G>A (p.Thr582=)	SPAG9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 791456	NM_001130528.3(SPAG9):c.1476+10C>T	SPAG9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 781370	NM_001130528.3(SPAG9):c.2226+9G>A	SPAG9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 747600	NM_001130528.3(SPAG9):c.2058+9A>T	SPAG9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 747599	NM_001130528.3(SPAG9):c.2813+6A>G	SPAG9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 722228	NM_001130528.3(SPAG9):c.3088+10G>A	SPAG9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 717063	NM_001130528.3(SPAG9):c.2377C>T (p.Leu793=)	SPAG9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 717062	NM_001130528.3(SPAG9):c.3114T>C (p.Tyr1038=)	SPAG9	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +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
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	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 59589	GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)x1	ABCC3, ABI3 +203 more	Copy number loss	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 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: 87