"Ambry Genetics"[submitter] AND "GIMAP8"[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3099833	NM_175571.4(GIMAP8):c.25T>C (p.Ser9Pro)	GIMAP8 (S9P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281398	NM_175571.4(GIMAP8):c.55T>C (p.Cys19Arg)	GIMAP8 (C19R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281399	NM_175571.4(GIMAP8):c.58C>T (p.Arg20Cys)	GIMAP8 (R20C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099837	NM_175571.4(GIMAP8):c.64G>C (p.Gly22Arg)	GIMAP8 (G22R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319349	NM_175571.4(GIMAP8):c.146G>T (p.Cys49Phe)	GIMAP8 (C49F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605446	NM_175571.4(GIMAP8):c.152G>C (p.Arg51Thr)	GIMAP8 (R51T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378855	NM_175571.4(GIMAP8):c.218T>C (p.Ile73Thr)	GIMAP8 (I73T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376736	NM_175571.4(GIMAP8):c.266T>G (p.Leu89Arg)	GIMAP8 (L89R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281033	NM_175571.4(GIMAP8):c.274C>G (p.Pro92Ala)	GIMAP8 (P92A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326605	NM_175571.4(GIMAP8):c.343A>G (p.Lys115Glu)	GIMAP8 (K115E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3099834	NM_175571.4(GIMAP8):c.367G>A (p.Ala123Thr)	GIMAP8 (A123T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596250	NM_175571.4(GIMAP8):c.374C>T (p.Ala125Val)	GIMAP8 (A125V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347335	NM_175571.4(GIMAP8):c.439T>C (p.Phe147Leu)	GIMAP8 (F147L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099835	NM_175571.4(GIMAP8):c.507C>A (p.Asn169Lys)	GIMAP8 (N169K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099836	NM_175571.4(GIMAP8):c.560G>T (p.Arg187Leu)	GIMAP8 (R187L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265631	NM_175571.4(GIMAP8):c.586A>G (p.Asn196Asp)	GIMAP8 (N196D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369544	NM_175571.4(GIMAP8):c.589G>A (p.Gly197Arg)	GIMAP8 (G197R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298406	NM_175571.4(GIMAP8):c.614A>G (p.Lys205Arg)	GIMAP8 (K205R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2608660	NM_175571.4(GIMAP8):c.647A>G (p.Asn216Ser)	GIMAP8 (N216S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302021	NM_175571.4(GIMAP8):c.650A>G (p.Glu217Gly)	GIMAP8 (E217G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099838	NM_175571.4(GIMAP8):c.701T>C (p.Leu234Pro)	GIMAP8 (L234P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221194	NM_175571.4(GIMAP8):c.718G>A (p.Glu240Lys)	GIMAP8 (E240K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340332	NM_175571.4(GIMAP8):c.737C>T (p.Ser246Leu)	GIMAP8 (S246L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099839	NM_175571.4(GIMAP8):c.767G>A (p.Arg256His)	GIMAP8 (R256H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099840	NM_175571.4(GIMAP8):c.769G>A (p.Gly257Ser)	GIMAP8 (G257S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099841	NM_175571.4(GIMAP8):c.855C>G (p.Ser285Arg)	GIMAP8 (S285R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099842	NM_175571.4(GIMAP8):c.932A>C (p.Asn311Thr)	GIMAP8 (N311T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252061	NM_175571.4(GIMAP8):c.946G>A (p.Val316Ile)	GIMAP8 (V316I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274018	NM_175571.4(GIMAP8):c.1065C>A (p.Phe355Leu)	GIMAP8 (F355L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281400	NM_175571.4(GIMAP8):c.1115A>G (p.Gln372Arg)	GIMAP8 (Q372R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353292	NM_175571.4(GIMAP8):c.1127C>T (p.Thr376Met)	GIMAP8 (T376M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454300	NM_175571.4(GIMAP8):c.1372A>G (p.Ile458Val)	GIMAP8, LOC126860223 (I458V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205164	NM_175571.4(GIMAP8):c.1381A>C (p.Ser461Arg)	GIMAP8, LOC126860223 (S461R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2351920	NM_175571.4(GIMAP8):c.1399C>T (p.Arg467Trp)	GIMAP8, LOC126860223 (R467W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373286	NM_175571.4(GIMAP8):c.1510G>A (p.Glu504Lys)	GIMAP8, LOC126860223 (E504K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262251	NM_175571.4(GIMAP8):c.1607G>A (p.Arg536Gln)	GIMAP8, LOC126860223 (R536Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402453	NM_175571.4(GIMAP8):c.1637C>G (p.Ala546Gly)	GIMAP8, LOC126860223 (A546G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592521	NM_175571.4(GIMAP8):c.1762C>T (p.Arg588Trp)	GIMAP8, LOC126860223 (R588W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508987	NM_175571.4(GIMAP8):c.1763G>A (p.Arg588Gln)	GIMAP8, LOC126860223 (R588Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515946	NM_175571.4(GIMAP8):c.1765C>T (p.Arg589Cys)	GIMAP8, LOC126860223 (R589C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607612	NM_175571.4(GIMAP8):c.1772T>C (p.Phe591Ser)	GIMAP8, LOC126860223 (F591S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099828	NM_175571.4(GIMAP8):c.1774A>G (p.Lys592Glu)	GIMAP8, LOC126860223 (K592E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263079	NM_175571.4(GIMAP8):c.1798G>A (p.Ala600Thr)	GIMAP8, LOC126860223 (A600T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590578	NM_175571.4(GIMAP8):c.1802T>C (p.Phe601Ser)	GIMAP8, LOC126860223 (F601S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099829	NM_175571.4(GIMAP8):c.1826C>T (p.Ala609Val)	GIMAP8, LOC126860223 (A609V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099830	NM_175571.4(GIMAP8):c.1838A>G (p.Gln613Arg)	GIMAP8, LOC126860223 (Q613R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099831	NM_175571.4(GIMAP8):c.1865A>G (p.Asn622Ser)	GIMAP8, LOC126860223 (N622S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099832	NM_175571.4(GIMAP8):c.1886G>C (p.Gly629Ala)	GIMAP8, LOC126860223 (G629A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464828	NM_175571.4(GIMAP8):c.1892C>T (p.Ser631Phe)	GIMAP8, LOC126860223 (S631F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401483	NM_175571.4(GIMAP8):c.1964A>T (p.Lys655Ile)	GIMAP8, LOC126860223 (K655I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556750	NM_175571.4(GIMAP8):c.1980A>T (p.Leu660Phe)	GIMAP8, LOC126860223 (L660F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 51