"Ambry Genetics"[submitter] AND "SAP130"[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2399656	NM_001330301.2(SAP130):c.3158G>A (p.Arg1053Gln)	SAP130 (R1017Q +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293358	NM_001330301.2(SAP130):c.2926G>A (p.Glu976Lys)	SAP130 (E975K +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264890	NM_001330301.2(SAP130):c.2800G>A (p.Glu934Lys)	SAP130 (E933K +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546519	NM_001330301.2(SAP130):c.2645G>A (p.Arg882His)	SAP130 (R881H +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261024	NM_001330301.2(SAP130):c.2491C>G (p.Pro831Ala)	SAP130 (P796A +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261023	NM_001330301.2(SAP130):c.2490G>T (p.Met830Ile)	SAP130 (M794I +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346154	NM_001330301.2(SAP130):c.2440A>G (p.Thr814Ala)	SAP130 (T805A +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264821	NM_001330301.2(SAP130):c.2407A>G (p.Met803Val)	SAP130 (M768V +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406814	NM_001330301.2(SAP130):c.2362G>A (p.Val788Ile)	SAP130 (V779I +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477649	NM_001330301.2(SAP130):c.2284C>T (p.Pro762Ser)	SAP130 (P727S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529050	NM_001330301.2(SAP130):c.2197A>G (p.Ile733Val)	SAP130 (I697V +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336613	NM_001330301.2(SAP130):c.2192C>T (p.Pro731Leu)	SAP130 (P722L +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378054	NM_001330301.2(SAP130):c.2162C>T (p.Ala721Val)	SAP130 (A685V +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319781	NM_001330301.2(SAP130):c.1969C>T (p.Arg657Trp)	SAP130 (R656W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2565291	NM_001330301.2(SAP130):c.1711A>G (p.Ile571Val)	SAP130 (I570V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316651	NM_001330301.2(SAP130):c.1678C>G (p.Leu560Val)	SAP130 (L560V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382805	NM_001330301.2(SAP130):c.1648A>T (p.Ile550Phe)	SAP130 (I549F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316255	NM_001330301.2(SAP130):c.1480T>G (p.Ser494Ala)	SAP130 (S493A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315429	NM_001330301.2(SAP130):c.1309C>T (p.Arg437Trp)	SAP130 (R463W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372157	NM_001330301.2(SAP130):c.1024A>G (p.Ile342Val)	SAP130 (I342V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513058	NM_001330301.2(SAP130):c.923G>A (p.Arg308His)	SAP130 (R334H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389217	NM_001330301.2(SAP130):c.770A>G (p.Asn257Ser)	SAP130 (N283S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341478	NM_001330301.2(SAP130):c.767C>G (p.Ser256Cys)	SAP130 (S256C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510896	NM_001330301.2(SAP130):c.338G>A (p.Gly113Glu)	SAP130 (G113E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389053	NM_001330301.2(SAP130):c.149C>T (p.Ala50Val)	SAP130 (A50V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619472	NM_001330301.2(SAP130):c.103G>A (p.Ala35Thr)	SAP130 (A35T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618402	NM_001330301.2(SAP130):c.58C>G (p.Pro20Ala)	SAP130 (P46A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238774	NM_001330301.2(SAP130):c.23G>T (p.Arg8Leu)	SAP130 (R34L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369051	NM_001330301.2(SAP130):c.-6-811G>C	LOC129934738, SAP130 (G19R)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2362211	NM_001330301.2(SAP130):c.-7+817C>G	LOC129934738, SAP130 (A14G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2588173	NM_001330301.2(SAP130):c.-7+795C>T	LOC129934738, SAP130 (P7S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2273299	NM_001330301.2(SAP130):c.-7+784C>T	LOC129934738, SAP130 (P3L)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 32