SPAG8[gene] and "single gene"[properties] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 720135	NM_001039592.2(SPAG8):c.1262C>T (p.Pro421Leu)	SPAG8 (P421L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3168091	NM_001039592.2(SPAG8):c.1217A>C (p.Gln406Pro)	SPAG8 (Q406P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340951	NM_001039592.2(SPAG8):c.1180G>A (p.Gly394Arg)	SPAG8 (G394R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220812	NM_001039592.2(SPAG8):c.1160G>A (p.Arg387Gln)	SPAG8 (R387Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379142	NM_001039592.2(SPAG8):c.1151A>G (p.His384Arg)	SPAG8 (H384R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168090	NM_001039592.2(SPAG8):c.1086T>C (p.Cys362=)	SPAG8	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3321800	NM_001039592.2(SPAG8):c.1046G>A (p.Arg349His)	SPAG8 (R349H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223608	NM_001039592.2(SPAG8):c.1037G>A (p.Arg346Gln)	SPAG8 (R346Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276394	NM_001039592.2(SPAG8):c.1031C>T (p.Pro344Leu)	SPAG8 (P344L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378361	NM_001039592.2(SPAG8):c.989C>G (p.Thr330Ser)	SPAG8 (T330S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303987	NM_001039592.2(SPAG8):c.989C>A (p.Thr330Asn)	SPAG8 (T330N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 730582	NM_001039592.2(SPAG8):c.928C>T (p.Arg310Ter)	SPAG8 (R310*)	Single nucleotide variant (nonsense +1 more)	not provided	GBenign
Select item 2530984	NM_001039592.2(SPAG8):c.925T>G (p.Phe309Val)	SPAG8 (F309V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168098	NM_001039592.2(SPAG8):c.911C>T (p.Ser304Phe)	SPAG8 (S304F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236010	NM_001039592.2(SPAG8):c.900G>A (p.Met300Ile)	SPAG8 (M300I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303047	NM_001039592.2(SPAG8):c.830G>A (p.Arg277Gln)	SPAG8 (R277Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 778426	NM_001039592.2(SPAG8):c.828G>A (p.Pro276=)	SPAG8	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2394334	NM_001039592.2(SPAG8):c.756A>C (p.Glu252Asp)	SPAG8 (E252D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321801	NM_001039592.2(SPAG8):c.728C>G (p.Pro243Arg)	SPAG8 (P243R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372851	NM_001039592.2(SPAG8):c.706C>T (p.Pro236Ser)	SPAG8 (P236S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286557	NM_001039592.2(SPAG8):c.689C>A (p.Ser230Tyr)	SPAG8 (S230Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224037	NM_001039592.2(SPAG8):c.670C>T (p.Arg224Trp)	SPAG8 (R224W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 92034	NM_001039592.2(SPAG8):c.618C>T (p.Asp206=)	SPAG8	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 768291	NM_001039592.2(SPAG8):c.598G>A (p.Gly200Ser)	SPAG8 (G200S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2394333	NM_001039592.2(SPAG8):c.593G>C (p.Gly198Ala)	SPAG8 (G198A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238287	NM_001039592.2(SPAG8):c.584C>T (p.Pro195Leu)	SPAG8 (P195L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168097	NM_001039592.2(SPAG8):c.574C>G (p.His192Asp)	SPAG8 (H192D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168096	NM_001039592.2(SPAG8):c.548C>G (p.Ser183Cys)	SPAG8 (S183C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321804	NM_001039592.2(SPAG8):c.487C>T (p.Pro163Ser)	SPAG8 (P163S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485198	NM_001039592.2(SPAG8):c.395G>C (p.Ser132Thr)	SPAG8 (S132T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168095	NM_001039592.2(SPAG8):c.392A>G (p.His131Arg)	SPAG8 (H131R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282601	NM_001039592.2(SPAG8):c.346G>T (p.Val116Phe)	SPAG8 (V116F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 720136	NM_001039592.2(SPAG8):c.328A>G (p.Ser110Gly)	SPAG8 (S110G)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2463320	NM_001039592.2(SPAG8):c.313A>T (p.Asn105Tyr)	SPAG8 (N105Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 785285	NM_001039592.2(SPAG8):c.294G>A (p.Ala98=)	SPAG8	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2245091	NM_001039592.2(SPAG8):c.293C>G (p.Ala98Gly)	SPAG8 (A98G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168094	NM_001039592.2(SPAG8):c.239G>C (p.Cys80Ser)	SPAG8 (C80S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168093	NM_001039592.2(SPAG8):c.233C>T (p.Ala78Val)	SPAG8 (A78V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321803	NM_001039592.2(SPAG8):c.169G>A (p.Ala57Thr)	SPAG8 (A57T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 781166	NM_001039592.2(SPAG8):c.159G>A (p.Ala53=)	SPAG8	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2559722	NM_001039592.2(SPAG8):c.133G>C (p.Ala45Pro)	SPAG8 (A45P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351589	NM_001039592.2(SPAG8):c.74G>A (p.Gly25Glu)	SPAG8 (G25E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353280	NM_001039592.2(SPAG8):c.64A>G (p.Ser22Gly)	SPAG8 (S22G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 737982	NM_001039592.2(SPAG8):c.30G>C (p.Ser10=)	SPAG8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2272693	NM_001039592.2(SPAG8):c.14A>C (p.Glu5Ala)	SPAG8 (E5A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341439	NM_001039592.2(SPAG8):c.8C>T (p.Thr3Ile)	SPAG8 (T3I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 46