20226[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	LOC130056359, LOC130056360 +663 more	Copy number gain	See cases	GPathogenic
Select item 146793	GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	LOC130056380, LOC130056381 +755 more	Copy number loss	See cases	GPathogenic
Select item 146074	GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3	LOC130056535, LOC130056536 +671 more	Copy number gain	See cases	GPathogenic
Select item 57085	GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1	LOC130056672, LOC130056673 +667 more	Copy number loss	See cases	GPathogenic
Select item 146615	GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3	LOC130056604, LOC130056605 +654 more	Copy number gain	See cases	GPathogenic
Select item 144349	GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1	ADSS1, AHNAK2 +632 more	Copy number loss	See cases	GPathogenic
Select item 146084	GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3	MIR493, MIR494 +530 more	Copy number gain	See cases	GPathogenic
Select item 57267	GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1	ADSS1, AHNAK2 +582 more	Copy number loss	See cases	GPathogenic
Select item 155595	GRCh38/hg38 14q32.2-32.33(chr14:100582059-106877229)x1	LOC130056480, LOC130056481 +571 more	Copy number loss	See cases	GPathogenic
Select item 57413	GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1	IGHV1-46, IGHV1-58 +561 more	Copy number loss	See cases	GPathogenic
Select item 154386	GRCh38/hg38 14q32.31-32.33(chr14:101665602-106855263)x1	MIR6765, MIR8071-1 +441 more	Copy number loss	See cases	GPathogenic
Select item 150835	GRCh38/hg38 14q32.31-32.33(chr14:101925670-106876323)x1	ADSS1, AHNAK2 +416 more	Copy number loss	See cases	GPathogenic
Select item 57839	GRCh38/hg38 14q32.31-32.33(chr14:102210395-104449321)x1	LOC105378183, LOC112163684 +164 more	Copy number loss	See cases	GPathogenic
Select item 153602	GRCh38/hg38 14q32.31-32.33(chr14:102239422-106877229)x1	ADSS1, AHNAK2 +397 more	Copy number loss	See cases	GPathogenic
Select item 2579167	GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1	LOC130056644, LOC130056645 +397 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 57840	GRCh38/hg38 14q32.31-32.33(chr14:102584963-104898605)x1	ADSS1, AKT1 +177 more	Copy number loss	See cases	GPathogenic
Select item 155087	GRCh38/hg38 14q32.31-32.33(chr14:102605096-106879298)x1	ADSS1, AHNAK2 +367 more	Copy number loss	See cases	GPathogenic
Select item 154526	GRCh38/hg38 14q32.32-32.33(chr14:103322414-106855263)x3	ADSS1, AHNAK2 +304 more	Copy number gain	See cases	GPathogenic
Select item 155689	GRCh38/hg38 14q32.32-32.33(chr14:103332197-104435594)x3	ASPG, ATP5MJ +72 more	Copy number gain	See cases	GUncertain significance
Select item 57841	GRCh38/hg38 14q32.33(chr14:103784758-106870558)x1	ADSS1, AHNAK2 +256 more	Copy number loss	See cases	GPathogenic
Select item 154736	GRCh38/hg38 14q32.33(chr14:103823600-106879298)x1	ADSS1, AHNAK2 +256 more	Copy number loss	See cases	GPathogenic
Select item 154247	GRCh38/hg38 14q32.33(chr14:104051258-106877229)x1	ADSS1, AHNAK2 +241 more	Copy number loss	See cases	GPathogenic
Select item 2342650	NM_015656.2(KIF26A):c.25T>C (p.Cys9Arg)	KIF26A (C9R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339847	NM_015656.2(KIF26A):c.51G>C (p.Glu17Asp)	KIF26A (E17D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644596	NM_015656.2(KIF26A):c.60G>A (p.Pro20=)	KIF26A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2227858	NM_015656.2(KIF26A):c.94C>G (p.Pro32Ala)	KIF26A (P32A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261000	NM_015656.2(KIF26A):c.113C>T (p.Ala38Val)	KIF26A (A38V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278562	NM_015656.2(KIF26A):c.136G>A (p.Gly46Ser)	KIF26A (G46S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288565	NM_015656.2(KIF26A):c.181G>A (p.Gly61Ser)	KIF26A (G61S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288554	NM_015656.2(KIF26A):c.226A>G (p.Lys76Glu)	KIF26A (K76E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216924	NM_015656.2(KIF26A):c.313C>T (p.Leu105Phe)	KIF26A (L105F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238568	NM_015656.2(KIF26A):c.316G>A (p.Asp106Asn)	KIF26A (D106N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206511	NM_015656.2(KIF26A):c.352C>T (p.Arg118Cys)	KIF26A (R118C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114745	NM_015656.2(KIF26A):c.353G>A (p.Arg118His)	KIF26A (R118H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234805	NM_015656.2(KIF26A):c.355C>T (p.Pro119Ser)	KIF26A (P119S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644597	NM_015656.2(KIF26A):c.363C>T (p.Ala121=)	KIF26A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2561894	NM_015656.2(KIF26A):c.370C>T (p.Arg124Cys)	KIF26A (R124C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644598	NM_015656.2(KIF26A):c.384C>T (p.Cys128=)	KIF26A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2476193	NM_015656.2(KIF26A):c.385G>T (p.Ala129Ser)	KIF26A (A129S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237213	NM_015656.2(KIF26A):c.410G>A (p.Arg137Gln)	KIF26A (R137Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3363347	NM_015656.2(KIF26A):c.449A>G (p.Glu150Gly)	KIF26A (E150G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3288568	NM_015656.2(KIF26A):c.488C>T (p.Pro163Leu)	KIF26A (P163L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244289	NM_015656.2(KIF26A):c.508T>G (p.Ser170Ala)	KIF26A (S170A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114780	NM_015656.2(KIF26A):c.536C>T (p.Pro179Leu)	KIF26A (P179L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260616	NM_015656.2(KIF26A):c.548A>G (p.Gln183Arg)	KIF26A (Q183R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114785	NM_015656.2(KIF26A):c.584T>C (p.Leu195Pro)	KIF26A (L195P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114786	NM_015656.2(KIF26A):c.703C>T (p.Arg235Trp)	KIF26A (R235W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400833	NM_015656.2(KIF26A):c.704G>A (p.Arg235Gln)	KIF26A (R235Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215251	NM_015656.2(KIF26A):c.713G>C (p.Ser238Thr)	KIF26A (S238T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114787	NM_015656.2(KIF26A):c.725C>T (p.Pro242Leu)	KIF26A (P242L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288558	NM_015656.2(KIF26A):c.728C>T (p.Ala243Val)	KIF26A (A243V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352344	NM_015656.2(KIF26A):c.761C>T (p.Ala254Val)	KIF26A (A254V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515663	NM_015656.2(KIF26A):c.779G>A (p.Arg260Gln)	KIF26A (R260Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380295	NM_015656.2(KIF26A):c.785G>T (p.Cys262Phe)	KIF26A (C262F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 807180	NM_015656.2(KIF26A):c.792dup (p.Val265fs)	KIF26A (V265fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2588870	NM_015656.2(KIF26A):c.790C>G (p.Pro264Ala)	KIF26A (P264A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353242	NM_015656.2(KIF26A):c.793G>A (p.Val265Met)	KIF26A (V265M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114788	NM_015656.2(KIF26A):c.799G>A (p.Gly267Ser)	KIF26A (G267S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294671	NM_015656.2(KIF26A):c.803C>T (p.Pro268Leu)	KIF26A (P268L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205261	NM_015656.2(KIF26A):c.817A>G (p.Lys273Glu)	KIF26A (K273E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457393	NM_015656.2(KIF26A):c.830G>A (p.Arg277His)	KIF26A (R277H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2644599	NM_015656.2(KIF26A):c.846G>A (p.Thr282=)	KIF26A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2466443	NM_015656.2(KIF26A):c.899C>T (p.Ser300Leu)	KIF26A (S300L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114789	NM_015656.2(KIF26A):c.904G>T (p.Ala302Ser)	KIF26A (A302S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317954	NM_015656.2(KIF26A):c.946G>C (p.Ala316Pro)	KIF26A (A316P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469731	NM_015656.2(KIF26A):c.977C>T (p.Pro326Leu)	KIF26A (P326L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288573	NM_015656.2(KIF26A):c.979C>T (p.Pro327Ser)	KIF26A (P327S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644600	NM_015656.2(KIF26A):c.987C>T (p.Ala329=)	KIF26A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3114790	NM_015656.2(KIF26A):c.992G>A (p.Arg331His)	KIF26A (R331H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114718	NM_015656.2(KIF26A):c.1027G>T (p.Val343Phe)	KIF26A (V343F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588146	NM_015656.2(KIF26A):c.1075G>A (p.Ala359Thr)	KIF26A (A359T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2552774	NM_015656.2(KIF26A):c.1094A>G (p.Asn365Ser)	KIF26A (N365S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411552	NM_015656.2(KIF26A):c.1096C>A (p.Pro366Thr)	KIF26A (P366T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256832	NM_015656.2(KIF26A):c.1127T>G (p.Leu376Arg)	KIF26A (L376R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219166	NM_015656.2(KIF26A):c.1192C>A (p.Pro398Thr)	KIF26A (P398T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114720	NM_015656.2(KIF26A):c.1231G>C (p.Gly411Arg)	KIF26A (G411R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606786	NM_015656.2(KIF26A):c.1238C>T (p.Pro413Leu)	KIF26A (P413L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283995	NM_015656.2(KIF26A):c.1247C>T (p.Ala416Val)	KIF26A (A416V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320019	NM_015656.2(KIF26A):c.1264G>C (p.Ala422Pro)	KIF26A (A422P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3340030	NM_015656.2(KIF26A):c.1302C>T (p.Ala434=)	KIF26A	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3114721	NM_015656.2(KIF26A):c.1367C>T (p.Ser456Leu)	KIF26A (S456L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 428591	NM_015656.2(KIF26A):c.1381del (p.Ala461fs)	KIF26A (A461fs)	Deletion (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2544554	NM_015656.2(KIF26A):c.1411A>G (p.Met471Val)	KIF26A (M471V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508953	NM_015656.2(KIF26A):c.1517G>A (p.Arg506His)	KIF26A (R506H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592848	NM_015656.2(KIF26A):c.1537C>T (p.Arg513Cys)	KIF26A (R513C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644602	NM_015656.2(KIF26A):c.1545C>T (p.Ser515=)	KIF26A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644601	NM_015656.2(KIF26A):c.1545C>G (p.Ser515=)	KIF26A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2302258	NM_015656.2(KIF26A):c.1546G>A (p.Val516Ile)	KIF26A (V516I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464303	NM_015656.2(KIF26A):c.1572C>G (p.Cys524Trp)	KIF26A (C524W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363343	NM_015656.2(KIF26A):c.1576C>T (p.Arg526Cys)	KIF26A (R526C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407667	NM_015656.2(KIF26A):c.1577G>A (p.Arg526His)	KIF26A (R526H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114722	NM_015656.2(KIF26A):c.1592G>A (p.Arg531Gln)	KIF26A (R531Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331988	NM_015656.2(KIF26A):c.1622G>A (p.Ser541Asn)	KIF26A (S541N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353817	NM_015656.2(KIF26A):c.1679C>T (p.Ala560Val)	KIF26A (A560V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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