16493[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 2664088	NC_000010.11:g.79055368_79303220del	LOC110121445, LOC111365175 +36 more	Deletion	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GPathogenic
Select item 1281699	NM_020338.4(ZMIZ1):c.-49-17111T>G	LOC126860974, ZMIZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2640629	NM_020338.4(ZMIZ1):c.-7G>A	ZMIZ1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2511897	NM_020338.4(ZMIZ1):c.22A>T (p.Ile8Phe)	ZMIZ1 (I8F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259347	NM_020338.4(ZMIZ1):c.35A>G (p.Asn12Ser)	ZMIZ1 (N12S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1801953	NM_020338.4(ZMIZ1):c.37G>A (p.Asp13Asn)	ZMIZ1 (D13N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2060035	NM_020338.4(ZMIZ1):c.51C>T (p.Cys17=)	ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2868902	NM_020338.4(ZMIZ1):c.60+11G>C	ZMIZ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872239	NM_020338.4(ZMIZ1):c.75T>G (p.Pro25=)	ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2803883	NM_020338.4(ZMIZ1):c.79A>G (p.Asn27Asp)	ZMIZ1 (N27D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2753599	NM_020338.4(ZMIZ1):c.85C>T (p.His29Tyr)	ZMIZ1 (H29Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2715967	NM_020338.4(ZMIZ1):c.93C>T (p.Ala31=)	ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3362640	NM_020338.4(ZMIZ1):c.94G>A (p.Ala32Thr)	ZMIZ1 (A32T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies	GUncertain significance
Select item 3342090	NM_020338.4(ZMIZ1):c.98C>T (p.Thr33Met)	ZMIZ1 (T33M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579979	NM_020338.4(ZMIZ1):c.103C>G (p.Leu35Val)	ZMIZ1 (L35V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2027517	NM_020338.4(ZMIZ1):c.105G>T (p.Leu35=)	ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890186	NM_020338.4(ZMIZ1):c.106C>T (p.Leu36=)	ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2172494	NM_020338.4(ZMIZ1):c.117C>T (p.Cys39=)	ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1699342	NM_020338.4(ZMIZ1):c.118G>A (p.Gly40Arg)	ZMIZ1 (G40R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies	GUncertain significance
Select item 2044076	NM_020338.4(ZMIZ1):c.135C>T (p.Phe45=)	ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1806534	NM_020338.4(ZMIZ1):c.137A>G (p.Gln46Arg)	ZMIZ1 (Q46R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2392442	NM_020338.4(ZMIZ1):c.140G>A (p.Arg47Gln)	ZMIZ1 (R47Q)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3334788	NM_020338.4(ZMIZ1):c.151C>A (p.Gln51Lys)	ZMIZ1 (Q51K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580716	NM_020338.4(ZMIZ1):c.155_160del (p.Ser52_Leu53del)	ZMIZ1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2177299	NM_020338.4(ZMIZ1):c.155G>A (p.Ser52Asn)	ZMIZ1 (S52N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2166499	NM_020338.4(ZMIZ1):c.159G>A (p.Leu53=)	ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3193714	NM_020338.4(ZMIZ1):c.169T>G (p.Leu57Val)	ZMIZ1 (L57V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366444	NM_020338.4(ZMIZ1):c.173C>T (p.Thr58Met)	ZMIZ1 (T58M)	Single nucleotide variant (missense variant)	See cases +2 more	GUncertain significance
Select item 2701698	NM_020338.4(ZMIZ1):c.174+3G>A	ZMIZ1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2066625	NM_020338.4(ZMIZ1):c.174+13C>G	ZMIZ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2865349	NM_020338.4(ZMIZ1):c.174+19C>T	ZMIZ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871320	NM_020338.4(ZMIZ1):c.174+20G>A	ZMIZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3234604	NM_020338.4(ZMIZ1):c.175-6T>A	ZMIZ1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2782282	NM_020338.4(ZMIZ1):c.189G>A (p.Val63=)	ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2580455	NM_020338.4(ZMIZ1):c.206T>C (p.Phe69Ser)	ZMIZ1 (F69S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1994151	NM_020338.4(ZMIZ1):c.234G>A (p.Leu78=)	ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 984582	NM_020338.4(ZMIZ1):c.253C>T (p.Arg85Ter)	ZMIZ1 (R85*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2001950	NM_020338.4(ZMIZ1):c.258C>T (p.Asp86=)	ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2738457	NM_020338.4(ZMIZ1):c.270G>A (p.Pro90=)	ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 487354	NM_020338.4(ZMIZ1):c.272A>G (p.Lys91Arg)	ZMIZ1 (K91R)	Single nucleotide variant (missense variant)	not specified	GLikely pathogenic
Select item 1969425	NM_020338.4(ZMIZ1):c.279C>T (p.Ala93=)	ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1974388	NM_020338.4(ZMIZ1):c.280G>A (p.Ala94Thr)	ZMIZ1 (A94T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2720245	NM_020338.4(ZMIZ1):c.280+10C>T	ZMIZ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1342368	NM_020338.4(ZMIZ1):c.281-21790A>G	ZMIZ1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies	GUncertain significance
Select item 1599413	NM_020338.4(ZMIZ1):c.281-17T>C	ZMIZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2029793	NM_020338.4(ZMIZ1):c.281-4G>A	ZMIZ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2804990	NM_020338.4(ZMIZ1):c.282C>T (p.Ala94=)	ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977526	NM_020338.4(ZMIZ1):c.291C>T (p.Ser97=)	ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874991	NM_020338.4(ZMIZ1):c.294C>T (p.Ser98=)	ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1971136	NM_020338.4(ZMIZ1):c.309C>T (p.Leu103=)	ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1986169	NM_020338.4(ZMIZ1):c.310G>A (p.Gly104Ser)	ZMIZ1 (G104S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2729641	NM_020338.4(ZMIZ1):c.312C>T (p.Gly104=)	ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1718039	NM_020338.4(ZMIZ1):c.313C>G (p.Arg105Gly)	ZMIZ1 (R105G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 978131	NM_020338.4(ZMIZ1):c.314G>A (p.Arg105His)	ZMIZ1 (R105H)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2503420	NM_020338.4(ZMIZ1):c.328C>T (p.Arg110Ter)	ZMIZ1 (R110*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies	GLikely pathogenic
Select item 2052190	NM_020338.4(ZMIZ1):c.330A>G (p.Arg110=)	ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3193720	NM_020338.4(ZMIZ1):c.344G>A (p.Arg115His)	ZMIZ1 (R115H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2886911	NM_020338.4(ZMIZ1):c.351C>T (p.Ser117=)	ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2048726	NM_020338.4(ZMIZ1):c.352G>A (p.Asp118Asn)	ZMIZ1 (D118N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2623009	NM_020338.4(ZMIZ1):c.379C>T (p.Pro127Ser)	ZMIZ1 (P127S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473309	NM_020338.4(ZMIZ1):c.385C>G (p.Leu129Val)	ZMIZ1 (L129V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2640630	NM_020338.4(ZMIZ1):c.389GCTCCATGA[1] (p.130SSM[1])	ZMIZ1	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 3193721	NM_020338.4(ZMIZ1):c.389G>A (p.Ser130Asn)	ZMIZ1 (S130N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2003847	NM_020338.4(ZMIZ1):c.403A>G (p.Met135Val)	ZMIZ1 (M135V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2506619	NM_020338.4(ZMIZ1):c.409C>T (p.Pro137Ser)	ZMIZ1 (P137S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2584596	NM_020338.4(ZMIZ1):c.410C>A (p.Pro137His)	ZMIZ1 (P137H)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies	GUncertain significance
Select item 995992	NM_020338.4(ZMIZ1):c.418T>C (p.Ser140Pro)	ZMIZ1 (S140P)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies	GUncertain significance
Select item 2005931	NM_020338.4(ZMIZ1):c.420G>T (p.Ser140=)	ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1971435	NM_020338.4(ZMIZ1):c.420G>A (p.Ser140=)	ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2163158	NM_020338.4(ZMIZ1):c.425G>A (p.Ser142Asn)	ZMIZ1 (S142N)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1205213	NM_020338.4(ZMIZ1):c.425+1G>A	ZMIZ1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1971729	NM_020338.4(ZMIZ1):c.425+12G>C	ZMIZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2640631	NM_020338.4(ZMIZ1):c.426-4294A>T	LOC128462388, ZMIZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2640632	NM_020338.4(ZMIZ1):c.426-4246C>T	LOC128462388, ZMIZ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2640633	NM_020338.4(ZMIZ1):c.426-4205C>T	LOC128462388, ZMIZ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 780882	NM_020338.4(ZMIZ1):c.435G>A (p.Ser145=)	ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 992771	NM_020338.4(ZMIZ1):c.440C>T (p.Pro147Leu)	ZMIZ1 (P147L)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GUncertain significance
Select item 2859416	NM_020338.4(ZMIZ1):c.454C>T (p.Pro152Ser)	ZMIZ1 (P152S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2778420	NM_020338.4(ZMIZ1):c.470C>G (p.Thr157Ser)	ZMIZ1 (T157S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2852706	NM_020338.4(ZMIZ1):c.473A>G (p.Asn158Ser)	ZMIZ1 (N158S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2411363	NM_020338.4(ZMIZ1):c.482C>A (p.Pro161His)	ZMIZ1 (P161H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2054588	NM_020338.4(ZMIZ1):c.483C>T (p.Pro161=)	ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1981199	NM_020338.4(ZMIZ1):c.484G>A (p.Gly162Ser)	ZMIZ1 (G162S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2015208	NM_020338.4(ZMIZ1):c.496G>C (p.Val166Leu)	ZMIZ1 (V166L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252250	NM_020338.4(ZMIZ1):c.502A>G (p.Thr168Ala)	ZMIZ1 (T168A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2093839	NM_020338.4(ZMIZ1):c.506C>T (p.Thr169Met)	ZMIZ1 (T169M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2818295	NM_020338.4(ZMIZ1):c.540+7G>T	ZMIZ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2042231	NM_020338.4(ZMIZ1):c.540+8C>A	ZMIZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2837175	NM_020338.4(ZMIZ1):c.540+12T>C	ZMIZ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2228784	NM_020338.4(ZMIZ1):c.541-4A>T	ZMIZ1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2501442	NM_020338.4(ZMIZ1):c.553C>T (p.Pro185Ser)	ZMIZ1 (P185S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310050	NM_020338.4(ZMIZ1):c.564_569del (p.187AN[1])	ZMIZ1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2783692	NM_020338.4(ZMIZ1):c.561C>G (p.Ala187=)	ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2430368	NM_020338.4(ZMIZ1):c.569A>G (p.Asn190Ser)	ZMIZ1 (N190S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies	GUncertain significance
Select item 992794	NM_020338.4(ZMIZ1):c.577A>G (p.Met193Val)	ZMIZ1 (M193V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2877483	NM_020338.4(ZMIZ1):c.588C>A (p.Gly196=)	ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2446315	NM_020338.4(ZMIZ1):c.594C>A (p.Asn198Lys)	ZMIZ1 (N198K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1683372	NM_020338.4(ZMIZ1):c.595C>G (p.Pro199Ala)	ZMIZ1 (P199A)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance

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