83636[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 155638	GRCh38/hg38 19q11-13.11(chr19:27780238-34783942)x3	ANKRD27, C19orf12 +210 more	Copy number gain	See cases	GUncertain significance
Select item 153639	GRCh38/hg38 19q12-13.11(chr19:29051888-31967596)x1	C19orf12, CCNE1 +71 more	Copy number loss	See cases	GLikely pathogenic
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 151459	GRCh38/hg38 19q12(chr19:29686202-29751260)x3	LOC130064130, LOC130064131 +7 more	Copy number gain	See cases	GLikely benign
Select item 369262	NM_001256047.1(C19orf12):c.*3833T>A	C19orf12	Single nucleotide variant	Neurodegeneration with brain iron accumulation 4	GLikely benign
Select item 328652	NM_001031726.3(C19orf12):c.*3819T>G	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GBenign
Select item 328653	NM_031448.6(C19orf12):c.*3745G>A	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 888719	NM_031448.6(C19orf12):c.*3697C>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 328654	NM_031448.6(C19orf12):c.*3672C>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 328655	NM_031448.6(C19orf12):c.*3571C>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GBenign
Select item 328656	NM_031448.6(C19orf12):c.*3520C>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 888720	NM_031448.6(C19orf12):c.*3518C>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 328657	NM_031448.6(C19orf12):c.*3518C>A	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GBenign
Select item 328658	NM_031448.6(C19orf12):c.*3492G>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 328659	NM_031448.6(C19orf12):c.*3463G>A	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GBenign
Select item 328660	NM_031448.6(C19orf12):c.*3417C>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 328661	NM_031448.6(C19orf12):c.*3402dup	C19orf12	Duplication (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 890421	NM_031448.6(C19orf12):c.*3400T>A	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 328662	NM_031448.6(C19orf12):c.3399_3400insA	C19orf12	Insertion (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GLikely benign
Select item 328663	NM_031448.6(C19orf12):c.*3372C>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GBenign
Select item 890422	NM_031448.6(C19orf12):c.*3357G>A	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 890423	NM_031448.6(C19orf12):c.*3352C>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 328664	NM_031448.6(C19orf12):c.*3337G>A	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 328665	NM_031448.6(C19orf12):c.*3336C>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GBenign
Select item 890993	NM_031448.6(C19orf12):c.*3314C>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 328666	NM_031448.6(C19orf12):c.*3304T>C	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GLikely benign
Select item 890994	NM_031448.6(C19orf12):c.*3300C>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 328667	NM_031448.6(C19orf12):c.*3294C>G	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 328668	NM_031448.6(C19orf12):c.*3288T>G	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 890995	NM_031448.6(C19orf12):c.*3272C>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 328669	NM_031448.6(C19orf12):c.*3242C>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 328670	NM_031448.6(C19orf12):c.3227_3229del	C19orf12	Deletion (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GBenign
Select item 328671	NM_031448.6(C19orf12):c.*3217T>C	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 328672	NM_031448.6(C19orf12):c.3096_3097insG	C19orf12	Insertion (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GBenign
Select item 892218	NM_031448.6(C19orf12):c.*3091A>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 328673	NM_031448.6(C19orf12):c.*3026G>C	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 328674	NM_031448.6(C19orf12):c.*2961T>C	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4 +1 more	GBenign
Select item 328675	NM_031448.6(C19orf12):c.*2956G>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 328676	NM_031448.6(C19orf12):c.*2893G>A	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GBenign
Select item 328677	NM_031448.6(C19orf12):c.*2790dup	C19orf12	Duplication (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GBenign
Select item 892219	NM_031448.6(C19orf12):c.*2784C>G	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GLikely benign
Select item 888790	NM_031448.6(C19orf12):c.*2778C>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GBenign
Select item 328678	NM_031448.6(C19orf12):c.*2763A>G	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GBenign
Select item 888791	NM_031448.6(C19orf12):c.*2732G>A	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 888792	NM_031448.6(C19orf12):c.*2692C>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GLikely benign
Select item 328679	NM_031448.6(C19orf12):c.*2691A>G	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 888793	NM_031448.6(C19orf12):c.*2671A>C	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 328680	NM_031448.6(C19orf12):c.*2662C>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GBenign
Select item 328681	NM_031448.6(C19orf12):c.*2621C>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 328682	NM_031448.6(C19orf12):c.*2526del	C19orf12	Deletion (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GLikely benign
Select item 328683	NM_031448.6(C19orf12):c.*2449G>A	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 890499	NM_031448.6(C19orf12):c.*2384C>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 328684	NM_031448.6(C19orf12):c.*2373G>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 890500	NM_031448.6(C19orf12):c.*2328G>A	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 328685	NM_031448.6(C19orf12):c.*2310C>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GLikely benign
Select item 328686	NM_031448.6(C19orf12):c.*2270T>G	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 328687	NM_031448.6(C19orf12):c.*2222A>C	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 890501	NM_031448.6(C19orf12):c.*2208G>A	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 891058	NM_031448.6(C19orf12):c.*2207C>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 328688	NM_031448.6(C19orf12):c.*2186C>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GBenign
Select item 891059	NM_031448.6(C19orf12):c.*2117G>A	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GBenign
Select item 328689	NM_031448.6(C19orf12):c.*2100G>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 891060	NM_031448.6(C19orf12):c.*2058T>C	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 891061	NM_031448.6(C19orf12):c.*1944A>G	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 891062	NM_031448.6(C19orf12):c.*1940T>C	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 891063	NM_031448.6(C19orf12):c.*1897A>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 328690	NM_031448.6(C19orf12):c.*1880T>C	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 892279	NM_031448.6(C19orf12):c.*1870G>C	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 892280	NM_031448.6(C19orf12):c.*1854G>A	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GLikely benign
Select item 892281	NM_031448.6(C19orf12):c.*1840G>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 892282	NM_031448.6(C19orf12):c.*1827G>C	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 328691	NM_031448.6(C19orf12):c.*1826G>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 328692	NM_031448.6(C19orf12):c.*1686T>C	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4 +1 more	GBenign
Select item 328693	NM_031448.6(C19orf12):c.*1671C>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 888879	NM_031448.6(C19orf12):c.*1666G>A	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GBenign
Select item 888880	NM_031448.6(C19orf12):c.*1648C>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 328694	NM_031448.6(C19orf12):c.*1595G>A	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 328695	NM_031448.6(C19orf12):c.*1592A>G	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 328696	NM_031448.6(C19orf12):c.*1557T>C	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GLikely benign
Select item 328697	NM_031448.6(C19orf12):c.*1536T>C	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GLikely benign
Select item 328698	NM_031448.6(C19orf12):c.*1488T>G	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 328699	NM_031448.6(C19orf12):c.*1453C>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 890576	NM_031448.6(C19orf12):c.*1413G>A	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GLikely benign
Select item 890577	NM_031448.6(C19orf12):c.*1362G>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 328700	NM_031448.6(C19orf12):c.*1362G>A	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GBenign
Select item 890578	NM_031448.6(C19orf12):c.*1361C>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GBenign
Select item 890579	NM_031448.6(C19orf12):c.*1226C>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 328701	NM_031448.6(C19orf12):c.*1219C>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 890580	NM_031448.6(C19orf12):c.*1203A>G	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 328702	NM_031448.6(C19orf12):c.*1178C>A	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 328703	NM_031448.6(C19orf12):c.*1170C>A	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GBenign
Select item 328704	NM_031448.6(C19orf12):c.*1159C>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 328705	NM_031448.6(C19orf12):c.*1158C>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 328706	NM_031448.6(C19orf12):c.*1145G>A	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4 +1 more	GBenign
Select item 328707	NM_031448.6(C19orf12):c.*1144C>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 328708	NM_031448.6(C19orf12):c.*1114C>G	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4 +1 more	GBenign
Select item 891138	NM_031448.6(C19orf12):c.*1111A>G	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance

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