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

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2355353	NM_004969.4(IDE):c.2932A>G (p.Ile978Val)	IDE (I978V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2326968	NM_004969.4(IDE):c.2890G>T (p.Asp964Tyr)	IDE (D964Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402748	NM_004969.4(IDE):c.2866G>A (p.Val956Ile)	IDE (V917I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308448	NM_004969.4(IDE):c.2779T>C (p.Tyr927His)	IDE (Y372H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108011	NM_004969.4(IDE):c.2734A>G (p.Ile912Val)	IDE (I912V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261724	NM_004969.4(IDE):c.2718A>C (p.Lys906Asn)	IDE (K351N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285222	NM_004969.4(IDE):c.2646C>G (p.Phe882Leu)	IDE (F327L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285224	NM_004969.4(IDE):c.2417T>C (p.Met806Thr)	IDE (M765T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399084	NM_004969.4(IDE):c.2353G>A (p.Val785Ile)	IDE (V744I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108010	NM_004969.4(IDE):c.2260C>T (p.His754Tyr)	IDE (H713Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313678	NM_004969.4(IDE):c.2225T>C (p.Met742Thr)	IDE (M187T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264432	NM_004969.4(IDE):c.2218G>C (p.Gly740Arg)	IDE (G699R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285217	NM_004969.4(IDE):c.2209G>A (p.Ala737Thr)	IDE (A182T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491453	NM_004969.4(IDE):c.2149C>T (p.Pro717Ser)	IDE (P162S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349828	NM_004969.4(IDE):c.2141C>G (p.Ala714Gly)	IDE (A159G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108008	NM_004969.4(IDE):c.1961T>C (p.Ile654Thr)	IDE (I613T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558451	NM_004969.4(IDE):c.1904A>G (p.Asn635Ser)	IDE (N635S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285226	NM_004969.4(IDE):c.1897G>C (p.Gly633Arg)	IDE (G633R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483035	NM_004969.4(IDE):c.1829C>T (p.Ala610Val)	IDE (A55V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2327222	NM_004969.4(IDE):c.1808C>T (p.Ser603Leu)	IDE (S564L +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2615461	NM_004969.4(IDE):c.1707G>T (p.Leu569Phe)	IDE (L569F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525817	NM_004969.4(IDE):c.1652T>C (p.Ile551Thr)	IDE (I551T +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2364369	NM_004969.4(IDE):c.1631C>T (p.Ala544Val)	IDE (A503V +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2350873	NM_004969.4(IDE):c.1531A>G (p.Lys511Glu)	IDE (K472E +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2592875	NM_004969.4(IDE):c.1520A>T (p.Asp507Val)	IDE (D468V +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2326693	NM_004969.4(IDE):c.1456G>A (p.Glu486Lys)	IDE (E486K +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3108007	NM_004969.4(IDE):c.1450T>G (p.Ser484Ala)	IDE (S443A +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2470410	NM_004969.4(IDE):c.1405G>A (p.Asp469Asn)	IDE (D430N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285223	NM_004969.4(IDE):c.1400T>G (p.Val467Gly)	IDE (V426G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491328	NM_004969.4(IDE):c.1381C>G (p.Pro461Ala)	IDE (P420A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297704	NM_004969.4(IDE):c.1381C>T (p.Pro461Ser)	IDE (P461S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108006	NM_004969.4(IDE):c.1354G>A (p.Ala452Thr)	IDE (A411T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328627	NM_004969.4(IDE):c.1352C>T (p.Thr451Ile)	IDE (T410I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226978	NM_004969.4(IDE):c.1328A>G (p.Tyr443Cys)	IDE (Y402C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108005	NM_004969.4(IDE):c.1286G>A (p.Arg429Lys)	IDE (R390K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550449	NM_004969.4(IDE):c.1168A>G (p.Ile390Val)	IDE (I351V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611439	NM_004969.4(IDE):c.1141G>A (p.Glu381Lys)	IDE (E340K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108017	NM_004969.4(IDE):c.971A>G (p.Lys324Arg)	IDE (K285R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108016	NM_004969.4(IDE):c.946A>T (p.Thr316Ser)	IDE (T316S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533211	NM_004969.4(IDE):c.884A>G (p.Glu295Gly)	IDE (E256G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474081	NM_004969.4(IDE):c.850C>G (p.Pro284Ala)	IDE (P243A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339482	NM_004969.4(IDE):c.825T>G (p.Phe275Leu)	IDE (F234L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108014	NM_004969.4(IDE):c.811G>T (p.Val271Leu)	IDE (V230L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257896	NM_004969.4(IDE):c.732C>A (p.Phe244Leu)	IDE (F244L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3285225	NM_004969.4(IDE):c.673A>G (p.Thr225Ala)	IDE (T184A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2333577	NM_004969.4(IDE):c.622A>G (p.Thr208Ala)	IDE (T167A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339413	NM_004969.4(IDE):c.524A>G (p.Asp175Gly)	IDE (D175G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108013	NM_004969.4(IDE):c.424A>G (p.Thr142Ala)	IDE (T101A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108009	NM_004969.4(IDE):c.217A>T (p.Ile73Phe)	IDE (I32F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530399	NM_004969.4(IDE):c.70C>T (p.Arg24Cys)	IDE (R24C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3108012	NM_004969.4(IDE):c.32C>T (p.Pro11Leu)	IDE (P11L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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Items: 51