KIAA1614[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932075, LOC129932076 +560 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic
Select item 57510	GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1	ABL2, ACBD6 +347 more	Copy number loss	See cases	GPathogenic
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	ANGPTL1, APOBEC4 +455 more	Copy number loss	See cases	GPathogenic
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129388668, LOC129388669 +477 more	Copy number loss	See cases	GPathogenic
Select item 3114303	NM_020950.2(KIAA1614):c.8G>A (p.Gly3Glu)	KIAA1614, LINC02816 (G3E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2279761	NM_020950.2(KIAA1614):c.32C>T (p.Pro11Leu)	KIAA1614, LINC02816 (P11L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479434	NM_020950.2(KIAA1614):c.73A>G (p.Thr25Ala)	KIAA1614 (T25A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616174	NM_020950.2(KIAA1614):c.131T>C (p.Leu44Pro)	KIAA1614 (L44P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2533096	NM_020950.2(KIAA1614):c.134A>T (p.Asp45Val)	KIAA1614 (D45V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114285	NM_020950.2(KIAA1614):c.144C>G (p.His48Gln)	KIAA1614 (H48Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639603	NM_020950.2(KIAA1614):c.302T>C (p.Val101Ala)	KIAA1614 (V101A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2246070	NM_020950.2(KIAA1614):c.395G>C (p.Gly132Ala)	KIAA1614 (G132A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284709	NM_020950.2(KIAA1614):c.415G>A (p.Val139Met)	KIAA1614 (V139M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461017	NM_020950.2(KIAA1614):c.484G>T (p.Ala162Ser)	KIAA1614 (A162S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213429	NM_020950.2(KIAA1614):c.493G>A (p.Gly165Arg)	KIAA1614 (G165R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114297	NM_020950.2(KIAA1614):c.554C>T (p.Pro185Leu)	KIAA1614 (P185L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392712	NM_020950.2(KIAA1614):c.602C>T (p.Pro201Leu)	KIAA1614 (P201L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2599360	NM_020950.2(KIAA1614):c.638T>C (p.Ile213Thr)	KIAA1614 (I213T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114298	NM_020950.2(KIAA1614):c.646G>A (p.Val216Ile)	KIAA1614 (V216I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114299	NM_020950.2(KIAA1614):c.659G>A (p.Arg220Gln)	KIAA1614 (R220Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2398400	NM_020950.2(KIAA1614):c.668G>T (p.Gly223Val)	KIAA1614 (G223V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339261	NM_020950.2(KIAA1614):c.682A>G (p.Asn228Asp)	KIAA1614 (N228D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305196	NM_020950.2(KIAA1614):c.719G>A (p.Arg240Lys)	KIAA1614 (R240K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532317	NM_020950.2(KIAA1614):c.808G>C (p.Ala270Pro)	KIAA1614 (A270P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552732	NM_020950.2(KIAA1614):c.823C>T (p.Arg275Cys)	KIAA1614 (R275C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114301	NM_020950.2(KIAA1614):c.886C>T (p.Arg296Trp)	KIAA1614 (R296W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254637	NM_020950.2(KIAA1614):c.887G>C (p.Arg296Pro)	KIAA1614 (R296P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114302	NM_020950.2(KIAA1614):c.889G>C (p.Val297Leu)	KIAA1614 (V297L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114304	NM_020950.2(KIAA1614):c.927C>T (p.Asn309=)	KIAA1614	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2597422	NM_020950.2(KIAA1614):c.928G>A (p.Val310Ile)	KIAA1614 (V310I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514997	NM_020950.2(KIAA1614):c.946C>T (p.Arg316Cys)	KIAA1614 (R316C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471629	NM_020950.2(KIAA1614):c.965C>G (p.Ala322Gly)	KIAA1614 (A322G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340072	NM_020950.2(KIAA1614):c.1066G>A (p.Val356Ile)	KIAA1614 (V356I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463322	NM_020950.2(KIAA1614):c.1079C>T (p.Pro360Leu)	KIAA1614 (P360L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295478	NM_020950.2(KIAA1614):c.1091T>C (p.Leu364Pro)	KIAA1614 (L364P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536249	NM_020950.2(KIAA1614):c.1095C>G (p.Ser365Arg)	KIAA1614 (S365R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595849	NM_020950.2(KIAA1614):c.1115C>T (p.Thr372Met)	KIAA1614 (T372M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114282	NM_020950.2(KIAA1614):c.1135C>T (p.Arg379Cys)	KIAA1614 (R379C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114283	NM_020950.2(KIAA1614):c.1136G>A (p.Arg379His)	KIAA1614 (R379H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241440	NM_020950.2(KIAA1614):c.1138A>G (p.Met380Val)	KIAA1614 (M380V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234419	NM_020950.2(KIAA1614):c.1153C>T (p.Arg385Trp)	KIAA1614 (R385W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569368	NM_020950.2(KIAA1614):c.1162C>T (p.Arg388Cys)	KIAA1614 (R388C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114284	NM_020950.2(KIAA1614):c.1180G>A (p.Val394Met)	KIAA1614 (V394M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470307	NM_020950.2(KIAA1614):c.1234C>G (p.Pro412Ala)	KIAA1614 (P412A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373589	NM_020950.2(KIAA1614):c.1289C>T (p.Ser430Phe)	KIAA1614 (S430F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533640	NM_020950.2(KIAA1614):c.1348G>T (p.Val450Leu)	KIAA1614 (V450L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410479	NM_020950.2(KIAA1614):c.1381G>A (p.Glu461Lys)	KIAA1614 (E461K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599480	NM_020950.2(KIAA1614):c.1572C>G (p.His524Gln)	KIAA1614 (H524Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555679	NM_020950.2(KIAA1614):c.1612G>A (p.Ala538Thr)	KIAA1614 (A538T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486851	NM_020950.2(KIAA1614):c.1639C>T (p.Arg547Cys)	KIAA1614 (R547C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245910	NM_020950.2(KIAA1614):c.1657G>A (p.Ala553Thr)	KIAA1614 (A553T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494096	NM_020950.2(KIAA1614):c.1666G>A (p.Val556Ile)	KIAA1614 (V556I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532552	NM_020950.2(KIAA1614):c.1676C>T (p.Thr559Ile)	KIAA1614 (T559I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380209	NM_020950.2(KIAA1614):c.1682A>C (p.Gln561Pro)	KIAA1614 (Q561P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243102	NM_020950.2(KIAA1614):c.1694C>T (p.Ala565Val)	KIAA1614 (A565V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337157	NM_020950.2(KIAA1614):c.1735C>T (p.Pro579Ser)	KIAA1614 (P579S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114286	NM_020950.2(KIAA1614):c.1738C>T (p.Leu580Phe)	KIAA1614 (L580F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521515	NM_020950.2(KIAA1614):c.1754C>T (p.Ala585Val)	KIAA1614 (A585V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522704	NM_020950.2(KIAA1614):c.1814C>T (p.Pro605Leu)	KIAA1614 (P605L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514093	NM_020950.2(KIAA1614):c.1868C>T (p.Thr623Ile)	KIAA1614 (T623I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481199	NM_020950.2(KIAA1614):c.1870G>A (p.Asp624Asn)	KIAA1614 (D624N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358772	NM_020950.2(KIAA1614):c.1879G>A (p.Glu627Lys)	KIAA1614 (E627K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238855	NM_020950.2(KIAA1614):c.1934C>A (p.Pro645Gln)	KIAA1614 (P645Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114287	NM_020950.2(KIAA1614):c.1937G>A (p.Arg646Gln)	KIAA1614 (R646Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613309	NM_020950.2(KIAA1614):c.1948C>T (p.Arg650Trp)	KIAA1614 (R650W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606083	NM_020950.2(KIAA1614):c.1949G>C (p.Arg650Pro)	KIAA1614 (R650P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114290	NM_020950.2(KIAA1614):c.1963C>G (p.Arg655Gly)	KIAA1614 (R655G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460294	NM_020950.2(KIAA1614):c.2011C>T (p.Leu671Phe)	KIAA1614 (L671F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222427	NM_020950.2(KIAA1614):c.2252C>T (p.Ala751Val)	KIAA1614 (A751V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333447	NM_020950.2(KIAA1614):c.2272T>C (p.Ser758Pro)	KIAA1614 (S758P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2223364	NM_020950.2(KIAA1614):c.2273C>T (p.Ser758Leu)	KIAA1614 (S758L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214525	NM_020950.2(KIAA1614):c.2299A>G (p.Thr767Ala)	KIAA1614 (T767A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454592	NM_020950.2(KIAA1614):c.2453C>T (p.Ser818Leu)	KIAA1614 (S818L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354239	NM_020950.2(KIAA1614):c.2530C>T (p.Arg844Trp)	KIAA1614 (R844W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555841	NM_020950.2(KIAA1614):c.2559G>C (p.Arg853Ser)	KIAA1614 (R853S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364144	NM_020950.2(KIAA1614):c.2573C>T (p.Pro858Leu)	KIAA1614 (P858L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358735	NM_020950.2(KIAA1614):c.2614C>T (p.Pro872Ser)	KIAA1614 (P872S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591420	NM_020950.2(KIAA1614):c.2660G>C (p.Arg887Pro)	KIAA1614 (R887P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232784	NM_020950.2(KIAA1614):c.2725C>T (p.Arg909Trp)	KIAA1614 (R909W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114291	NM_020950.2(KIAA1614):c.2726G>A (p.Arg909Gln)	KIAA1614 (R909Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2227373	NM_020950.2(KIAA1614):c.2828C>T (p.Ser943Phe)	KIAA1614 (S943F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592630	NM_020950.2(KIAA1614):c.2831T>C (p.Leu944Pro)	KIAA1614 (L944P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361155	NM_020950.2(KIAA1614):c.2902G>A (p.Gly968Arg)	KIAA1614 (G968R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491209	NM_020950.2(KIAA1614):c.2933C>G (p.Ala978Gly)	KIAA1614 (A978G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639604	NM_020950.2(KIAA1614):c.2938A>G (p.Thr980Ala)	KIAA1614 (T980A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2241623	NM_020950.2(KIAA1614):c.2957C>T (p.Ser986Leu)	KIAA1614 (S986L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2495088	NM_020950.2(KIAA1614):c.2989A>T (p.Ser997Cys)	KIAA1614 (S997C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114293	NM_020950.2(KIAA1614):c.3000A>G (p.Ile1000Met)	KIAA1614 (I1000M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551852	NM_020950.2(KIAA1614):c.3025C>T (p.Leu1009Phe)	KIAA1614 (L1009F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2243992	NM_020950.2(KIAA1614):c.3103G>A (p.Ala1035Thr)	KIAA1614 (A1035T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639605	NM_020950.2(KIAA1614):c.3135C>A (p.Ala1045=)	KIAA1614	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2356289	NM_020950.2(KIAA1614):c.3179G>A (p.Arg1060His)	KIAA1614 (R1060H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2349630	NM_020950.2(KIAA1614):c.3182G>A (p.Arg1061Gln)	KIAA1614 (R1061Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380447	NM_020950.2(KIAA1614):c.3236G>A (p.Arg1079Gln)	KIAA1614 (R1079Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327361	NM_020950.2(KIAA1614):c.3259G>A (p.Gly1087Arg)	KIAA1614 (G1087R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277265	NM_020950.2(KIAA1614):c.3311G>A (p.Arg1104His)	KIAA1614 (R1104H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114294	NM_020950.2(KIAA1614):c.3320G>A (p.Ser1107Asn)	KIAA1614 (S1107N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114295	NM_020950.2(KIAA1614):c.3364C>T (p.Arg1122Cys)	KIAA1614 (R1122C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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