"Ambry Genetics"[submitter] AND "KIAA1755"[gene] - ClinVar

Search results

Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2257484	NM_001029864.2(KIAA1755):c.3542G>A (p.Gly1181Glu)	KIAA1755 (G1181E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114349	NM_001029864.2(KIAA1755):c.3448C>T (p.Arg1150Cys)	KIAA1755 (R1150C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3288214	NM_001029864.2(KIAA1755):c.3439G>A (p.Asp1147Asn)	KIAA1755 (D1147N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385501	NM_001029864.2(KIAA1755):c.3424T>G (p.Ser1142Ala)	KIAA1755 (S1142A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3114348	NM_001029864.2(KIAA1755):c.3376C>G (p.Pro1126Ala)	KIAA1755 (P777A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114347	NM_001029864.2(KIAA1755):c.3263G>T (p.Gly1088Val)	KIAA1755 (G739V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238800	NM_001029864.2(KIAA1755):c.3209G>A (p.Arg1070Gln)	KIAA1755 (R1070Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370993	NM_001029864.2(KIAA1755):c.3199C>T (p.Arg1067Cys)	KIAA1755 (R1067C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345056	NM_001029864.2(KIAA1755):c.3043G>A (p.Ala1015Thr)	KIAA1755 (A1015T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3288212	NM_001029864.2(KIAA1755):c.2999G>A (p.Arg1000His)	KIAA1755 (R1000H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363980	NM_001029864.2(KIAA1755):c.2990G>A (p.Arg997His)	KIAA1755 (R648H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620144	NM_001029864.2(KIAA1755):c.2913C>A (p.Phe971Leu)	KIAA1755 (F622L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114344	NM_001029864.2(KIAA1755):c.2866G>A (p.Glu956Lys)	KIAA1755 (E956K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338038	NM_001029864.2(KIAA1755):c.2854C>G (p.Arg952Gly)	KIAA1755 (R603G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114343	NM_001029864.2(KIAA1755):c.2849G>T (p.Arg950Leu)	KIAA1755 (R601L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591805	NM_001029864.2(KIAA1755):c.2848C>T (p.Arg950Trp)	KIAA1755 (R601W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618270	NM_001029864.2(KIAA1755):c.2837T>C (p.Met946Thr)	KIAA1755 (M597T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114342	NM_001029864.2(KIAA1755):c.2762G>T (p.Arg921Leu)	KIAA1755 (R572L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522168	NM_001029864.2(KIAA1755):c.2761C>T (p.Arg921Cys)	KIAA1755 (R921C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511180	NM_001029864.2(KIAA1755):c.2696G>A (p.Gly899Asp)	KIAA1755 (G899D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352550	NM_001029864.2(KIAA1755):c.2693G>A (p.Arg898Gln)	KIAA1755 (R549Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3288210	NM_001029864.2(KIAA1755):c.2689C>T (p.Arg897Cys)	KIAA1755 (R897C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299422	NM_001029864.2(KIAA1755):c.2687A>G (p.Tyr896Cys)	KIAA1755 (Y547C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218861	NM_001029864.2(KIAA1755):c.2677G>A (p.Ala893Thr)	KIAA1755, LOC126863025 (A544T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3288220	NM_001029864.2(KIAA1755):c.2552A>G (p.His851Arg)	KIAA1755 (H502R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114341	NM_001029864.2(KIAA1755):c.2521G>A (p.Val841Ile)	KIAA1755 (V492I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2473579	NM_001029864.2(KIAA1755):c.2518C>G (p.Arg840Gly)	KIAA1755 (R491G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3288218	NM_001029864.2(KIAA1755):c.2474T>C (p.Val825Ala)	KIAA1755 (V825A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232597	NM_001029864.2(KIAA1755):c.2445G>T (p.Leu815Phe)	KIAA1755 (L466F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463281	NM_001029864.2(KIAA1755):c.2359G>A (p.Ala787Thr)	KIAA1755 (A438T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361396	NM_001029864.2(KIAA1755):c.2348G>A (p.Arg783Gln)	KIAA1755 (R783Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557763	NM_001029864.2(KIAA1755):c.2330G>A (p.Gly777Asp)	KIAA1755 (G428D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114340	NM_001029864.2(KIAA1755):c.2321G>C (p.Arg774Thr)	KIAA1755 (R425T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375984	NM_001029864.2(KIAA1755):c.2280G>T (p.Arg760Ser)	KIAA1755 (R760S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283067	NM_001029864.2(KIAA1755):c.2258G>T (p.Gly753Val)	KIAA1755 (G753V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367487	NM_001029864.2(KIAA1755):c.2240A>G (p.Glu747Gly)	KIAA1755 (E398G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244456	NM_001029864.2(KIAA1755):c.2239G>C (p.Glu747Gln)	KIAA1755 (E747Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350203	NM_001029864.2(KIAA1755):c.2230G>A (p.Glu744Lys)	KIAA1755 (E744K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2267895	NM_001029864.2(KIAA1755):c.2152T>A (p.Trp718Arg)	KIAA1755 (W718R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361619	NM_001029864.2(KIAA1755):c.2149G>A (p.Glu717Lys)	KIAA1755 (E717K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3288221	NM_001029864.2(KIAA1755):c.2089C>G (p.His697Asp)	KIAA1755 (H697D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477337	NM_001029864.2(KIAA1755):c.2005G>A (p.Gly669Arg)	KIAA1755 (G669R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2285447	NM_001029864.2(KIAA1755):c.1942G>A (p.Val648Ile)	KIAA1755 (V367I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536748	NM_001029864.2(KIAA1755):c.1880A>T (p.Asp627Val)	KIAA1755 (D627V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465808	NM_001029864.2(KIAA1755):c.1862C>A (p.Thr621Asn)	KIAA1755 (T340N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114338	NM_001029864.2(KIAA1755):c.1753C>T (p.Arg585Trp)	KIAA1755 (R304W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114337	NM_001029864.2(KIAA1755):c.1709G>A (p.Gly570Asp)	KIAA1755 (G570D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299758	NM_001029864.2(KIAA1755):c.1660A>G (p.Thr554Ala)	KIAA1755 (T554A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360829	NM_001029864.2(KIAA1755):c.1657C>T (p.Pro553Ser)	KIAA1755 (P272S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257817	NM_001029864.2(KIAA1755):c.1421C>T (p.Ser474Leu)	KIAA1755 (S474L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569178	NM_001029864.2(KIAA1755):c.1360A>G (p.Met454Val)	KIAA1755 (M454V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2524673	NM_001029864.2(KIAA1755):c.1343G>T (p.Gly448Val)	KIAA1755 (G448V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590119	NM_001029864.2(KIAA1755):c.1333G>C (p.Glu445Gln)	KIAA1755 (E445Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2333336	NM_001029864.2(KIAA1755):c.1328C>T (p.Thr443Ile)	KIAA1755 (T443I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365314	NM_001029864.2(KIAA1755):c.1270C>T (p.Arg424Cys)	KIAA1755 (R424C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510905	NM_001029864.2(KIAA1755):c.1226A>C (p.Asn409Thr)	KIAA1755 (N409T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547679	NM_001029864.2(KIAA1755):c.1180G>C (p.Glu394Gln)	KIAA1755 (E394Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3288217	NM_001029864.2(KIAA1755):c.1141C>G (p.Leu381Val)	KIAA1755 (L381V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395998	NM_001029864.2(KIAA1755):c.1138G>A (p.Ala380Thr)	KIAA1755 (A380T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236732	NM_001029864.2(KIAA1755):c.1112G>T (p.Gly371Val)	KIAA1755 (G371V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3288219	NM_001029864.2(KIAA1755):c.1109A>C (p.Gln370Pro)	KIAA1755 (Q370P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114332	NM_001029864.2(KIAA1755):c.1103C>T (p.Pro368Leu)	KIAA1755 (P368L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2205767	NM_001029864.2(KIAA1755):c.1085C>T (p.Thr362Ile)	KIAA1755 (T362I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210010	NM_001029864.2(KIAA1755):c.1064A>G (p.Lys355Arg)	KIAA1755 (K355R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389493	NM_001029864.2(KIAA1755):c.943C>T (p.Pro315Ser)	KIAA1755 (P315S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114355	NM_001029864.2(KIAA1755):c.813C>G (p.Phe271Leu)	KIAA1755 (F271L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3288216	NM_001029864.2(KIAA1755):c.812T>C (p.Phe271Ser)	KIAA1755 (F271S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620462	NM_001029864.2(KIAA1755):c.790G>A (p.Asp264Asn)	KIAA1755 (D264N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114354	NM_001029864.2(KIAA1755):c.789G>T (p.Met263Ile)	KIAA1755 (M263I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114353	NM_001029864.2(KIAA1755):c.739G>A (p.Gly247Arg)	KIAA1755 (G247R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247691	NM_001029864.2(KIAA1755):c.682C>T (p.Leu228Phe)	KIAA1755 (L228F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338039	NM_001029864.2(KIAA1755):c.675C>A (p.Asn225Lys)	KIAA1755 (N225K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274658	NM_001029864.2(KIAA1755):c.461A>C (p.Asn154Thr)	KIAA1755 (N154T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224305	NM_001029864.2(KIAA1755):c.455C>T (p.Ala152Val)	KIAA1755 (A152V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114351	NM_001029864.2(KIAA1755):c.436A>T (p.Thr146Ser)	KIAA1755 (T146S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607439	NM_001029864.2(KIAA1755):c.428T>C (p.Ile143Thr)	KIAA1755 (I143T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114350	NM_001029864.2(KIAA1755):c.407T>C (p.Val136Ala)	KIAA1755 (V136A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315956	NM_001029864.2(KIAA1755):c.329A>G (p.Glu110Gly)	KIAA1755 (E110G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288211	NM_001029864.2(KIAA1755):c.328G>A (p.Glu110Lys)	KIAA1755 (E110K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288215	NM_001029864.2(KIAA1755):c.317A>G (p.Tyr106Cys)	KIAA1755 (Y106C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114346	NM_001029864.2(KIAA1755):c.308G>T (p.Gly103Val)	KIAA1755 (G103V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602326	NM_001029864.2(KIAA1755):c.302G>A (p.Arg101His)	KIAA1755 (R101H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114345	NM_001029864.2(KIAA1755):c.295T>A (p.Leu99Ile)	KIAA1755 (L99I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241542	NM_001029864.2(KIAA1755):c.235G>T (p.Gly79Cys)	KIAA1755 (G79C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225482	NM_001029864.2(KIAA1755):c.206C>T (p.Pro69Leu)	KIAA1755 (P69L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388292	NM_001029864.2(KIAA1755):c.170G>A (p.Arg57His)	KIAA1755 (R57H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114336	NM_001029864.2(KIAA1755):c.169C>T (p.Arg57Cys)	KIAA1755 (R57C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114334	NM_001029864.2(KIAA1755):c.122A>G (p.Gln41Arg)	KIAA1755 (Q41R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3114333	NM_001029864.2(KIAA1755):c.115G>A (p.Gly39Ser)	KIAA1755 (G39S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621813	NM_001029864.2(KIAA1755):c.89G>A (p.Gly30Asp)	KIAA1755 (G30D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363981	NM_001029864.2(KIAA1755):c.70A>G (p.Thr24Ala)	KIAA1755 (T24A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613694	NM_001029864.2(KIAA1755):c.58C>A (p.Pro20Thr)	KIAA1755 (P20T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 92