SPATA22[gene] and "single gene"[properties] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2543976	NM_001170698.2(SPATA22):c.1067A>G (p.Tyr356Cys)	SPATA22 (Y313C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168288	NM_001170698.2(SPATA22):c.998C>T (p.Pro333Leu)	SPATA22 (P290L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2647233	NM_001170698.2(SPATA22):c.915G>A (p.Pro305=)	SPATA22	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2224142	NM_001170698.2(SPATA22):c.761G>A (p.Arg254His)	SPATA22 (R254H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287464	NM_001170698.2(SPATA22):c.748A>T (p.Met250Leu)	SPATA22 (M207L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168286	NM_001170698.2(SPATA22):c.739A>G (p.Ile247Val)	SPATA22 (I231V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168284	NM_001170698.2(SPATA22):c.587C>T (p.Ala196Val)	SPATA22 (A180V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392989	NM_001170698.2(SPATA22):c.574G>A (p.Asp192Asn)	SPATA22 (D176N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596343	NM_001170698.2(SPATA22):c.562A>G (p.Met188Val)	SPATA22 (M188V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168283	NM_001170698.2(SPATA22):c.352A>G (p.Thr118Ala)	SPATA22 (T75A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412031	NM_001170698.2(SPATA22):c.305C>G (p.Thr102Ser)	SPATA22 (T59S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168282	NM_001170698.2(SPATA22):c.290C>G (p.Ser97Cys)	SPATA22 (S54C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2691735	NM_001170698.2(SPATA22):c.253del (p.Ser85fs)	SPATA22 (S42fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3024999	NM_001170698.2(SPATA22):c.233+8G>A	SPATA22	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2260155	NM_001170698.2(SPATA22):c.223G>A (p.Val75Met)	SPATA22 (V32M +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2211292	NM_001170698.2(SPATA22):c.160C>T (p.Pro54Ser)	SPATA22 (P54S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341388	NM_001170698.2(SPATA22):c.146A>G (p.Asn49Ser)	SPATA22 (N49S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3168281	NM_001170698.2(SPATA22):c.134C>T (p.Thr45Ile)	SPATA22 (T45I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168285	NM_001170698.2(SPATA22):c.59C>T (p.Pro20Leu)	SPATA22 (P20L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345482	NM_001170698.2(SPATA22):c.58C>T (p.Pro20Ser)	SPATA22 (P20S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397160	NM_001170698.2(SPATA22):c.41C>A (p.Ala14Glu)	SPATA22 (A14E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 21