SPAG6[gene] and "single gene"[properties] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2616635	NM_012443.4(SPAG6):c.105G>C (p.Glu35Asp)	SPAG6 (E35D +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3037471	NM_012443.4(SPAG6):c.122-4031A>C	SPAG6 (M1L)	Single nucleotide variant (missense variant +2 more)	SPAG6-related disorder	GLikely benign
Select item 2485797	NM_012443.4(SPAG6):c.167C>G (p.Thr56Arg)	SPAG6 (T34R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387676	NM_012443.4(SPAG6):c.441G>C (p.Trp147Cys)	SPAG6 (W122C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386938	NM_012443.4(SPAG6):c.457G>A (p.Ala153Thr)	SPAG6 (A131T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718025	NM_012443.4(SPAG6):c.534G>A (p.Glu178=)	SPAG6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2220220	NM_012443.4(SPAG6):c.557T>C (p.Ile186Thr)	SPAG6 (I161T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321793	NM_012443.4(SPAG6):c.568G>A (p.Ala190Thr)	SPAG6 (A168T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321790	NM_012443.4(SPAG6):c.581T>C (p.Ile194Thr)	SPAG6 (I169T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321794	NM_012443.4(SPAG6):c.583G>T (p.Ala195Ser)	SPAG6 (A170S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3168085	NM_012443.4(SPAG6):c.661C>A (p.Pro221Thr)	SPAG6 (P196T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314119	NM_012443.4(SPAG6):c.700A>T (p.Ser234Cys)	SPAG6 (S209C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168086	NM_012443.4(SPAG6):c.763G>C (p.Val255Leu)	SPAG6 (V233L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552954	NM_012443.4(SPAG6):c.850G>A (p.Glu284Lys)	SPAG6 (E259K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350072	NM_012443.4(SPAG6):c.913T>A (p.Cys305Ser)	SPAG6 (C283S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168087	NM_012443.4(SPAG6):c.928C>T (p.Arg310Trp)	SPAG6 (R285W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168088	NM_012443.4(SPAG6):c.929G>T (p.Arg310Leu)	SPAG6 (R285L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321795	NM_012443.4(SPAG6):c.958G>A (p.Val320Ile)	SPAG6 (V295I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526790	NM_012443.4(SPAG6):c.982G>A (p.Ala328Thr)	SPAG6 (A328T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325485	NM_012443.4(SPAG6):c.998T>C (p.Ile333Thr)	SPAG6 (I311T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713977	NM_012443.4(SPAG6):c.1035A>G (p.Ser345=)	SPAG6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3321789	NM_012443.4(SPAG6):c.1041A>T (p.Glu347Asp)	SPAG6 (E322D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294025	NM_012443.4(SPAG6):c.1163T>C (p.Met388Thr)	SPAG6 (M363T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321796	NM_012443.4(SPAG6):c.1180G>C (p.Glu394Gln)	SPAG6 (E369Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321788	NM_012443.4(SPAG6):c.1210A>G (p.Ile404Val)	SPAG6 (I382V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350805	NM_012443.4(SPAG6):c.1232G>A (p.Cys411Tyr)	SPAG6 (C411Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168084	NM_012443.4(SPAG6):c.1250T>G (p.Leu417Arg)	SPAG6 (L392R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321791	NM_012443.4(SPAG6):c.1343G>A (p.Arg448Gln)	SPAG6 (R448Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535213	NM_012443.4(SPAG6):c.1345C>T (p.Leu449Phe)	SPAG6 (L424F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484034	NM_012443.4(SPAG6):c.1355C>T (p.Thr452Ile)	SPAG6 (T430I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396454	NM_012443.4(SPAG6):c.1400G>T (p.Gly467Val)	SPAG6 (G442V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321792	NM_012443.4(SPAG6):c.1402T>C (p.Ser468Pro)	SPAG6 (S446P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 32