11799[HGNC] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 358

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 57979	GRCh38/hg38 3p24.3-24.2(chr3:19915382-25537973)x3	EFHB, KAT2B +115 more	Copy number gain	See cases	GPathogenic
Select item 147469	GRCh38/hg38 3p24.3-24.2(chr3:23404410-24270481)x3	LINC00691, LOC121725135 +34 more	Copy number gain	See cases	GUncertain significance
Select item 344532	NM_001354712.2(THRB):c.*5728G>A	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GBenign
Select item 901559	NM_001354712.2(THRB):c.*5701A>T	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GBenign
Select item 344533	NM_001354712.2(THRB):c.*5684G>A	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GBenign
Select item 901560	NM_001354712.2(THRB):c.*5571G>C	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 344534	NM_001354712.2(THRB):c.*5533G>A	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GBenign
Select item 344535	NM_001354712.2(THRB):c.*5431T>A	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 344536	NM_001354712.2(THRB):c.*5429C>G	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GBenign
Select item 903494	NM_001354712.2(THRB):c.*5386G>C	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 344537	NM_001354712.2(THRB):c.*5367C>T	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GBenign
Select item 344538	NM_001354712.2(THRB):c.*5352C>T	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GBenign
Select item 344539	NM_001354712.2(THRB):c.*5295C>T	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 344540	NM_001354712.2(THRB):c.*5262C>T	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GBenign
Select item 344541	NM_001354712.2(THRB):c.*5257C>A	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 899886	NM_001354712.2(THRB):c.*5247T>A	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 344542	NM_001354712.2(THRB):c.*5194A>G	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 344543	NM_001354712.2(THRB):c.*5166G>C	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 344544	NM_001354712.2(THRB):c.*5122A>C	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 899887	NM_001354712.2(THRB):c.*4996T>C	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 344545	NM_001354712.2(THRB):c.*4988T>C	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GBenign
Select item 344546	NM_001354712.2(THRB):c.*4975G>C	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GBenign
Select item 344547	NM_001354712.2(THRB):c.*4927G>A	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 344548	NM_001354712.2(THRB):c.*4920A>G	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 344549	NM_001354712.2(THRB):c.*4917G>A	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GBenign
Select item 344550	NM_001354712.2(THRB):c.*4824C>T	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GBenign
Select item 344551	NM_001354712.2(THRB):c.*4796T>C	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GBenign
Select item 901066	NM_001354712.2(THRB):c.*4770G>A	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 344552	NM_001354712.2(THRB):c.*4762G>A	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GBenign
Select item 901612	NM_001354712.2(THRB):c.*4714T>C	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GLikely benign
Select item 344553	NM_001354712.2(THRB):c.*4611del	THRB	Deletion (3 prime UTR variant)	Thyroid hormone resistance syndrome	GLikely benign
Select item 344554	NM_001354712.2(THRB):c.4595_4596del	THRB	Deletion (3 prime UTR variant)	Thyroid hormone resistance syndrome	GUncertain significance
Select item 901613	NM_001354712.2(THRB):c.*4544T>C	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 344555	NM_001354712.2(THRB):c.*4541dup	THRB	Duplication (3 prime UTR variant)	Thyroid hormone resistance syndrome	GUncertain significance
Select item 344556	NM_001354712.2(THRB):c.*4477del	THRB	Deletion (3 prime UTR variant)	Thyroid hormone resistance syndrome	GUncertain significance
Select item 344557	NM_001354712.2(THRB):c.*4470T>C	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 901614	NM_001354712.2(THRB):c.*4434T>A	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 344558	NM_001354712.2(THRB):c.*4340G>A	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GBenign
Select item 344559	NM_001354712.2(THRB):c.*4205A>G	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GBenign
Select item 344560	NM_001354712.2(THRB):c.*4189G>C	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GBenign
Select item 344561	NM_001354712.2(THRB):c.*4129C>G	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GBenign
Select item 903555	NM_001354712.2(THRB):c.*4055C>T	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 903557	NM_001354712.2(THRB):c.*4033G>A	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 903556	NM_001354712.2(THRB):c.*4033G>C	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 903558	NM_001354712.2(THRB):c.*3981C>T	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 344562	NM_001354712.2(THRB):c.*3929G>A	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GBenign
Select item 344563	NM_001354712.2(THRB):c.*3915del	THRB	Deletion (3 prime UTR variant)	Thyroid hormone resistance syndrome	GUncertain significance
Select item 344570	NM_001354712.2(THRB):c.3906_3910dup	THRB	Duplication (3 prime UTR variant)	Thyroid hormone resistance syndrome	GUncertain significance
Select item 344566	NM_001354712.2(THRB):c.*3911C>A	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 344565	NM_001354712.2(THRB):c.3909_3910dup	THRB	Duplication (3 prime UTR variant)	Thyroid hormone resistance syndrome	GUncertain significance
Select item 344564	NM_001354712.2(THRB):c.*3910dup	THRB	Duplication (3 prime UTR variant)	Thyroid hormone resistance syndrome	GUncertain significance
Select item 344569	NM_001354712.2(THRB):c.*3910del	THRB	Deletion (3 prime UTR variant)	Thyroid hormone resistance syndrome	GUncertain significance
Select item 344568	NM_001354712.2(THRB):c.3905_3910del	THRB	Deletion (3 prime UTR variant)	Thyroid hormone resistance syndrome	GBenign
Select item 344567	NM_001354712.2(THRB):c.3906_3910del	THRB	Deletion (3 prime UTR variant)	Thyroid hormone resistance syndrome	GUncertain significance
Select item 344571	NM_001354712.2(THRB):c.3880_3885del	THRB	Deletion (3 prime UTR variant)	Thyroid hormone resistance syndrome	GUncertain significance
Select item 344572	NM_001354712.2(THRB):c.*3880del	THRB	Deletion (3 prime UTR variant)	Thyroid hormone resistance syndrome	GUncertain significance
Select item 344573	NM_001354712.2(THRB):c.*3879del	THRB	Deletion (3 prime UTR variant)	Thyroid hormone resistance syndrome	GUncertain significance
Select item 903559	NM_001354712.2(THRB):c.*3813G>A	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 344574	NM_001354712.2(THRB):c.*3595G>C	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GBenign
Select item 344575	NM_001354712.2(THRB):c.*3572C>T	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 344576	NM_001354712.2(THRB):c.*3459C>T	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GBenign
Select item 899953	NM_001354712.2(THRB):c.*3357C>G	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GBenign
Select item 344577	NM_001354712.2(THRB):c.*3324dup	THRB	Duplication (3 prime UTR variant)	Thyroid hormone resistance syndrome	GLikely benign
Select item 344578	NM_001354712.2(THRB):c.*3292G>A	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GBenign
Select item 344579	NM_001354712.2(THRB):c.*3288C>T	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 899954	NM_001354712.2(THRB):c.*3219G>A	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 899955	NM_001354712.2(THRB):c.*3163A>G	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GBenign
Select item 899956	NM_001354712.2(THRB):c.*3155G>A	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 344580	NM_001354712.2(THRB):c.*3143T>C	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GBenign
Select item 901131	NM_001354712.2(THRB):c.*3055G>A	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 901132	NM_001354712.2(THRB):c.*3047A>G	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 344581	NM_001354712.2(THRB):c.*3020G>T	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 344582	NM_001354712.2(THRB):c.*3017C>T	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GBenign
Select item 901133	NM_001354712.2(THRB):c.*2976G>A	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GBenign
Select item 344583	NM_001354712.2(THRB):c.*2912A>G	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GBenign
Select item 901134	NM_001354712.2(THRB):c.*2907G>A	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 344584	NM_001354712.2(THRB):c.*2882G>A	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GBenign
Select item 901671	NM_001354712.2(THRB):c.*2856C>T	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 344585	NM_001354712.2(THRB):c.*2786G>T	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GBenign
Select item 344586	NM_001354712.2(THRB):c.*2661del	THRB	Deletion (3 prime UTR variant)	Thyroid hormone resistance syndrome	GBenign
Select item 344588	NM_001354712.2(THRB):c.*2637G>A	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 344587	NM_001354712.2(THRB):c.*2637G>T	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GBenign
Select item 901672	NM_001354712.2(THRB):c.*2632C>T	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 344589	NM_001354712.2(THRB):c.*2616T>G	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GBenign
Select item 344590	NM_001354712.2(THRB):c.*2572ATTG[3]	THRB	Microsatellite (3 prime UTR variant)	Thyroid hormone resistance syndrome	GLikely benign
Select item 901673	NM_001354712.2(THRB):c.*2534G>A	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GBenign
Select item 344591	NM_001354712.2(THRB):c.*2516A>G	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GBenign
Select item 903624	NM_001354712.2(THRB):c.*2445A>G	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 344592	NM_001354712.2(THRB):c.*2347C>G	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GBenign
Select item 344593	NM_001354712.2(THRB):c.*2346T>C	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GBenign
Select item 344594	NM_001354712.2(THRB):c.*2341C>T	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 344595	NM_001354712.2(THRB):c.*2332G>A	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 344596	NM_001354712.2(THRB):c.*2316A>G	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GBenign
Select item 344597	NM_001354712.2(THRB):c.*2204C>G	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 900030	NM_001354712.2(THRB):c.*2183C>T	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance
Select item 344598	NM_001354712.2(THRB):c.*2182T>C	THRB	Single nucleotide variant (3 prime UTR variant)	Thyroid hormone resistance, generalized, autosomal dominant	GUncertain significance

<< First< Prev

Page of 4