"Ambry Genetics"[submitter] AND "INTS9"[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2366776	NM_018250.4(INTS9):c.1943G>A (p.Arg648Gln)	INTS9 (R648Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219300	NM_018250.4(INTS9):c.1925T>C (p.Met642Thr)	INTS9 (M618T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394079	NM_018250.4(INTS9):c.1883T>C (p.Ile628Thr)	INTS9 (I628T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475062	NM_018250.4(INTS9):c.1849G>A (p.Val617Ile)	INTS9 (V617I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255578	NM_018250.4(INTS9):c.1826A>T (p.Glu609Val)	INTS9 (E585V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532782	NM_018250.4(INTS9):c.1771G>A (p.Val591Met)	INTS9 (V567M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2496175	NM_018250.4(INTS9):c.1768C>T (p.Pro590Ser)	INTS9 (P569S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302655	NM_018250.4(INTS9):c.1765A>C (p.Ile589Leu)	INTS9 (I565L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110250	NM_018250.4(INTS9):c.1723G>A (p.Val575Ile)	INTS9 (V554I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2464714	NM_018250.4(INTS9):c.1708C>T (p.Arg570Trp)	INTS9 (R546W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110249	NM_018250.4(INTS9):c.1535G>A (p.Arg512Gln)	INTS9 (R512Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110248	NM_018250.4(INTS9):c.1516G>A (p.Ala506Thr)	INTS9 (A482T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286264	NM_018250.4(INTS9):c.1498C>T (p.Arg500Trp)	INTS9 (R500W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110247	NM_018250.4(INTS9):c.1483C>G (p.Pro495Ala)	INTS9 (P495A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110246	NM_018250.4(INTS9):c.1429C>A (p.Gln477Lys)	INTS9 (Q456K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270324	NM_018250.4(INTS9):c.1313C>T (p.Pro438Leu)	INTS9 (P414L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331915	NM_018250.4(INTS9):c.1250T>C (p.Leu417Pro)	INTS9 (L396P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3110245	NM_018250.4(INTS9):c.1214T>C (p.Val405Ala)	INTS9 (V381A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286262	NM_018250.4(INTS9):c.1202G>A (p.Arg401His)	INTS9 (R380H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110244	NM_018250.4(INTS9):c.1192C>T (p.Pro398Ser)	INTS9 (P398S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286261	NM_018250.4(INTS9):c.1177G>T (p.Val393Leu)	INTS9 (V369L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286265	NM_018250.4(INTS9):c.1141G>A (p.Gly381Arg)	INTS9 (G360R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286263	NM_018250.4(INTS9):c.956C>T (p.Ala319Val)	INTS9 (A319V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612749	NM_018250.4(INTS9):c.887T>C (p.Leu296Ser)	INTS9 (L296S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620589	NM_018250.4(INTS9):c.857C>A (p.Ala286Asp)	INTS9 (A262D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532611	NM_018250.4(INTS9):c.794G>A (p.Gly265Glu)	INTS9 (G244E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110254	NM_018250.4(INTS9):c.781C>T (p.Leu261Phe)	INTS9 (L237F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247577	NM_018250.4(INTS9):c.761C>T (p.Ser254Phe)	INTS9 (S233F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383703	NM_018250.4(INTS9):c.691T>G (p.Tyr231Asp)	INTS9 (Y231D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557619	NM_018250.4(INTS9):c.682C>G (p.Gln228Glu)	INTS9 (Q204E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110253	NM_018250.4(INTS9):c.671A>G (p.Asn224Ser)	INTS9 (N200S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601397	NM_018250.4(INTS9):c.550A>T (p.Met184Leu)	INTS9 (M184L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265096	NM_018250.4(INTS9):c.545A>G (p.Tyr182Cys)	INTS9 (Y158C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249785	NM_018250.4(INTS9):c.431T>C (p.Ile144Thr)	INTS9 (I123T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261825	NM_018250.4(INTS9):c.377C>T (p.Thr126Met)	INTS9 (T102M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219154	NM_018250.4(INTS9):c.352G>A (p.Gly118Ser)	INTS9 (G94S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265073	NM_018250.4(INTS9):c.263C>T (p.Thr88Met)	INTS9 (T88M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110251	NM_018250.4(INTS9):c.242C>T (p.Pro81Leu)	INTS9 (P57L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528389	NM_018250.4(INTS9):c.224T>C (p.Val75Ala)	INTS9 (V51A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312986	NM_018250.4(INTS9):c.152A>G (p.Asn51Ser)	INTS9 (N27S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2207899	NM_018250.4(INTS9):c.114C>G (p.Phe38Leu)	INTS9 (F14L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110252	NM_018250.4(INTS9):c.32C>T (p.Thr11Ile)	INTS9 (T11I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 42