29427[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 150685	GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3	ABLIM3, ADRB2 +313 more	Copy number gain	See cases	GPathogenic
Select item 351563	NM_024577.4(SH3TC2):c.22552_22553dup	SH3TC2	Duplication (3 prime UTR variant)	Mononeuropathy of the Median Nerve +1 more	GUncertain significance
Select item 351562	NM_024577.4(SH3TC2):c.*22553dup	SH3TC2	Duplication (3 prime UTR variant)	Mononeuropathy of the Median Nerve +1 more	GLikely benign
Select item 351564	NM_024577.4(SH3TC2):c.*22553del	SH3TC2	Deletion (3 prime UTR variant)	Mononeuropathy of the Median Nerve +1 more	GUncertain significance
Select item 906667	NM_024577.4(SH3TC2):c.*22505G>T	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 351565	NM_024577.4(SH3TC2):c.*22357T>C	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GLikely benign
Select item 351566	NM_024577.4(SH3TC2):c.*22291T>C	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 351567	NM_024577.4(SH3TC2):c.*22212G>A	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GBenign/Likely benign
Select item 907695	NM_024577.4(SH3TC2):c.*22208T>C	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 351568	NM_024577.4(SH3TC2):c.*22199C>T	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 351569	NM_024577.4(SH3TC2):c.*22168C>G	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 351570	NM_024577.4(SH3TC2):c.*22035G>A	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GLikely benign
Select item 351571	NM_024577.4(SH3TC2):c.*22034C>T	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 351572	NM_024577.4(SH3TC2):c.*21955A>G	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 351573	NM_024577.4(SH3TC2):c.*21786G>A	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +2 more	GLikely benign
Select item 351574	NM_024577.4(SH3TC2):c.*21728T>C	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GLikely benign
Select item 351575	NM_024577.4(SH3TC2):c.*21703G>A	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 351576	NM_024577.4(SH3TC2):c.*21658A>G	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GConflicting classifications of pathogenicity
Select item 351577	NM_024577.4(SH3TC2):c.*21539T>C	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 351578	NM_024577.4(SH3TC2):c.*21532C>A	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 351579	NM_024577.4(SH3TC2):c.*21474AAAC[2]	SH3TC2	Microsatellite (3 prime UTR variant)	Mononeuropathy of the Median Nerve +2 more	GLikely benign
Select item 351580	NM_024577.4(SH3TC2):c.*21472A>G	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +2 more	GBenign/Likely benign
Select item 351581	NM_024577.4(SH3TC2):c.*21395T>C	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Mononeuropathy of the Median Nerve +1 more	GUncertain significance
Select item 906742	NM_024577.4(SH3TC2):c.*21371A>G	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 907743	NM_024577.4(SH3TC2):c.*21281T>G	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 907744	NM_024577.4(SH3TC2):c.*21149A>G	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GConflicting classifications of pathogenicity
Select item 907745	NM_024577.4(SH3TC2):c.*21119G>T	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 351582	NM_024577.4(SH3TC2):c.*21118G>T	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 904416	NM_024577.4(SH3TC2):c.*21087A>G	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 1676915	NM_024577.4(SH3TC2):c.*20967G>A	SH3TC2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 904417	NM_024577.4(SH3TC2):c.*20966T>G	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 904418	NM_024577.4(SH3TC2):c.*20935C>G	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 351583	NM_024577.4(SH3TC2):c.20919_20920del	SH3TC2	Deletion (3 prime UTR variant)	Mononeuropathy of the Median Nerve +1 more	GUncertain significance
Select item 904419	NM_024577.4(SH3TC2):c.*20882A>G	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GConflicting classifications of pathogenicity
Select item 905216	NM_024577.4(SH3TC2):c.*20787G>A	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GConflicting classifications of pathogenicity
Select item 351584	NM_024577.4(SH3TC2):c.*20773G>T	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GConflicting classifications of pathogenicity
Select item 905217	NM_024577.4(SH3TC2):c.*20618C>T	LOC126807546, SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 351585	NM_024577.4(SH3TC2):c.*20564A>T	LOC126807546, SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +2 more	GLikely benign
Select item 906805	NM_024577.4(SH3TC2):c.*20553A>G	LOC126807546, SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 906806	NM_024577.4(SH3TC2):c.*20512C>A	LOC126807546, SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GLikely benign
Select item 351586	NM_024577.4(SH3TC2):c.*20469C>T	LOC126807546, SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 351587	NM_024577.4(SH3TC2):c.*20463T>C	LOC126807546, SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GBenign
Select item 351588	NM_024577.4(SH3TC2):c.*20412A>T	LOC126807546, SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 907801	NM_024577.4(SH3TC2):c.*20400A>C	LOC126807546, SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 351589	NM_024577.4(SH3TC2):c.*20362T>C	LOC126807546, SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 907802	NM_024577.4(SH3TC2):c.*20230G>T	LOC126807546, SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 904482	NM_024577.4(SH3TC2):c.*20207C>T	LOC126807546, SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GBenign
Select item 351590	NM_024577.4(SH3TC2):c.*20166T>A	LOC126807546, SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GBenign
Select item 351591	NM_024577.4(SH3TC2):c.*20142A>G	LOC126807546, SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GBenign/Likely benign
Select item 904483	NM_024577.4(SH3TC2):c.*20135C>T	LOC126807546, SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 905265	NM_024577.4(SH3TC2):c.*20099T>C	LOC126807546, SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GLikely benign
Select item 905266	NM_024577.4(SH3TC2):c.*20086A>G	LOC126807546, SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 351592	NM_024577.4(SH3TC2):c.*19989G>A	LOC126807546, SH3TC2	Single nucleotide variant (3 prime UTR variant)	Mononeuropathy of the Median Nerve +1 more	GUncertain significance
Select item 351593	NM_024577.4(SH3TC2):c.*19919T>C	LOC126807546, SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GBenign
Select item 906865	NM_024577.4(SH3TC2):c.*19631T>A	SH3TC2, LOC126807546	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 351594	NM_024577.4(SH3TC2):c.*19573G>A	LOC126807546, SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +2 more	GBenign
Select item 351596	NM_024577.4(SH3TC2):c.19563_19564dup	SH3TC2, LOC126807546	Duplication (3 prime UTR variant)	Mononeuropathy of the Median Nerve +2 more	GConflicting classifications of pathogenicity
Select item 351595	NM_024577.4(SH3TC2):c.*19564dup	LOC126807546, SH3TC2	Duplication (3 prime UTR variant)	Mononeuropathy of the Median Nerve +2 more	GBenign
Select item 906866	NM_024577.4(SH3TC2):c.*19552G>T	LOC126807546, SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 351597	NM_024577.4(SH3TC2):c.*19519G>A	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +2 more	GBenign
Select item 907854	NM_024577.4(SH3TC2):c.*19438C>A	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 351598	NM_024577.4(SH3TC2):c.*19411T>C	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 351600	NM_024577.4(SH3TC2):c.*19406A>G	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GConflicting classifications of pathogenicity
Select item 351599	NM_024577.4(SH3TC2):c.*19406A>T	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +2 more	GBenign
Select item 351601	NM_024577.4(SH3TC2):c.*19342A>G	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 351602	NM_024577.4(SH3TC2):c.*19270G>A	SH3TC2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 351603	NM_024577.4(SH3TC2):c.*19250T>A	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 351604	NM_024577.4(SH3TC2):c.*19182A>C	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 905331	NM_024577.4(SH3TC2):c.*19137C>G	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 905332	NM_024577.4(SH3TC2):c.*19111G>T	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 351605	NM_024577.4(SH3TC2):c.*19040A>G	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GBenign
Select item 906941	NM_024577.4(SH3TC2):c.*19019T>C	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 351606	NM_024577.4(SH3TC2):c.*19002A>G	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GLikely benign
Select item 906942	NM_024577.4(SH3TC2):c.*18824T>C	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 907918	NM_024577.4(SH3TC2):c.*18699T>G	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GBenign
Select item 351607	NM_024577.4(SH3TC2):c.*18635C>T	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 351608	NM_024577.4(SH3TC2):c.*18606T>G	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GBenign/Likely benign
Select item 351609	NM_024577.4(SH3TC2):c.*18554G>T	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GBenign
Select item 351610	NM_024577.4(SH3TC2):c.*18483dup	SH3TC2	Duplication (3 prime UTR variant)	Mononeuropathy of the Median Nerve +1 more	GUncertain significance
Select item 351611	NM_024577.4(SH3TC2):c.*18476T>C	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GLikely benign
Select item 904618	NM_024577.4(SH3TC2):c.*18471A>G	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 351612	NM_024577.4(SH3TC2):c.*18299C>T	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GBenign
Select item 351613	NM_024577.4(SH3TC2):c.*18234G>A	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 905408	NM_024577.4(SH3TC2):c.*18055C>A	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 905409	NM_024577.4(SH3TC2):c.*17934T>C	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 351614	NM_024577.4(SH3TC2):c.*17903A>G	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GBenign
Select item 905923	NM_024577.4(SH3TC2):c.*17837T>G	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 351615	NM_024577.4(SH3TC2):c.*17833T>G	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 351616	NM_024577.4(SH3TC2):c.*17703A>G	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GBenign
Select item 351617	NM_024577.4(SH3TC2):c.*17662T>C	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 907993	NM_024577.4(SH3TC2):c.*17482A>G	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 351618	NM_024577.4(SH3TC2):c.*17317G>A	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GBenign
Select item 907994	NM_024577.4(SH3TC2):c.*17301T>A	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 351619	NM_024577.4(SH3TC2):c.*17192C>T	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance
Select item 904683	NM_024577.4(SH3TC2):c.*17049C>G	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4C +1 more	GUncertain significance
Select item 351621	NM_024577.4(SH3TC2):c.*17036C>G	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GBenign
Select item 351620	NM_024577.4(SH3TC2):c.*17036C>T	SH3TC2	Single nucleotide variant (3 prime UTR variant)	Susceptibility to mononeuropathy of the median nerve, mild +1 more	GUncertain significance

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