"Ambry Genetics"[submitter] AND "SP9"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3321728	NM_001145250.2(SP9):c.29C>T (p.Pro10Leu)	SP9 (P10L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236392	NM_001145250.2(SP9):c.208A>T (p.Thr70Ser)	SP9 (T70S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606683	NM_001145250.2(SP9):c.214G>A (p.Gly72Ser)	SP9 (G72S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548213	NM_001145250.2(SP9):c.236C>T (p.Ala79Val)	SP9 (A79V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319907	NM_001145250.2(SP9):c.236C>A (p.Ala79Glu)	SP9 (A79E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167967	NM_001145250.2(SP9):c.286C>T (p.Pro96Ser)	SP9 (P96S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321729	NM_001145250.2(SP9):c.319G>A (p.Gly107Ser)	SP9 (G107S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321730	NM_001145250.2(SP9):c.439C>A (p.Pro147Thr)	SP9 (P147T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321720	NM_001145250.2(SP9):c.719C>A (p.Ser240Tyr)	SP9 (S240Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457630	NM_001145250.2(SP9):c.724G>A (p.Ala242Thr)	SP9 (A242T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246315	NM_001145250.2(SP9):c.745T>G (p.Ser249Ala)	SP9 (S249A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246316	NM_001145250.2(SP9):c.746C>A (p.Ser249Tyr)	SP9 (S249Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321721	NM_001145250.2(SP9):c.751A>G (p.Ser251Gly)	SP9 (S251G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321722	NM_001145250.2(SP9):c.802T>A (p.Ser268Thr)	LOC129935131, SP9 (S268T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559304	NM_001145250.2(SP9):c.814G>A (p.Ala272Thr)	LOC129935131, SP9 (A272T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321724	NM_001145250.2(SP9):c.869C>G (p.Ala290Gly)	LOC129935131, SP9 (A290G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321725	NM_001145250.2(SP9):c.872C>G (p.Ala291Gly)	LOC129935131, SP9 (A291G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321726	NM_001145250.2(SP9):c.880A>G (p.Ser294Gly)	LOC129935131, SP9 (S294G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167969	NM_001145250.2(SP9):c.881G>A (p.Ser294Asn)	LOC129935131, SP9 (S294N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167970	NM_001145250.2(SP9):c.947C>T (p.Ala316Val)	LOC129935131, SP9 (A316V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527572	NM_001145250.2(SP9):c.1181G>C (p.Cys394Ser)	SP9 (C394S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599032	NM_001145250.2(SP9):c.1186G>C (p.Val396Leu)	SP9 (V396L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321727	NM_001145250.2(SP9):c.1206G>A (p.Met402Ile)	SP9 (M402I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526633	NM_001145250.2(SP9):c.1343C>T (p.Ser448Phe)	SP9 (S448F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321731	NM_001145250.2(SP9):c.1352G>A (p.Ser451Asn)	SP9 (S451N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478416	NM_001145250.2(SP9):c.1355C>T (p.Ala452Val)	SP9 (A452V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618125	NM_001145250.2(SP9):c.1358C>G (p.Ala453Gly)	SP9 (A453G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770876	NM_001145250.2(SP9):c.1386A>G (p.Ala462=)	SP9	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3167966	NM_001145250.2(SP9):c.1388C>T (p.Ala463Val)	SP9 (A463V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 29