3643[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 369299	NM_000208.3(INSR):c.*4803G>A	INSR	Single nucleotide variant	Leprechaunism syndrome +2 more	GLikely benign
Select item 369300	NM_000208.3(INSR):c.*4802C>T	INSR	Single nucleotide variant	Rabson-Mendenhall syndrome +3 more	GBenign
Select item 14706	NC_000019.10:g.(?_7112255)_(7249328_?)del	LOC130063351, INSR +5 more	Deletion	Leprechaunism syndrome	GPathogenic
Select item 330343	NM_000208.3(INSR):c.*4794T>C	INSR	Single nucleotide variant	Insulin-resistant diabetes mellitus AND acanthosis nigricans +2 more	GBenign
Select item 330344	NM_000208.4(INSR):c.*4760G>A	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GLikely benign
Select item 330345	NM_000208.4(INSR):c.*4736T>G	INSR	Single nucleotide variant (3 prime UTR variant)	Leprechaunism syndrome +2 more	GUncertain significance
Select item 330346	NM_000208.4(INSR):c.*4719dup	INSR	Duplication (3 prime UTR variant)	Leprechaunism syndrome +2 more	GUncertain significance
Select item 893022	NM_000208.4(INSR):c.*4712T>C	INSR	Single nucleotide variant (3 prime UTR variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +2 more	GUncertain significance
Select item 893241	NM_000208.4(INSR):c.*4696T>C	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 330347	NM_000208.4(INSR):c.*4602C>T	INSR	Single nucleotide variant (3 prime UTR variant)	Leprechaunism syndrome +2 more	GBenign
Select item 330348	NM_000208.4(INSR):c.*4474C>T	INSR	Single nucleotide variant (3 prime UTR variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +3 more	GBenign
Select item 330349	NM_000208.4(INSR):c.*4422G>T	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +3 more	GBenign
Select item 894095	NM_000208.4(INSR):c.*4380G>A	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 330350	NM_000208.4(INSR):c.*4379C>T	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 894487	NM_000208.4(INSR):c.*4376G>C	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 330351	NM_000208.4(INSR):c.*4374G>A	INSR	Single nucleotide variant (3 prime UTR variant)	Leprechaunism syndrome +2 more	GUncertain significance
Select item 330352	NM_000208.4(INSR):c.*4349C>T	INSR	Single nucleotide variant (3 prime UTR variant)	Leprechaunism syndrome +2 more	GUncertain significance
Select item 330353	NM_000208.4(INSR):c.*4270G>A	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GBenign
Select item 330354	NM_000208.4(INSR):c.*4218G>C	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GBenign
Select item 330355	NM_000208.4(INSR):c.*4195T>C	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GBenign
Select item 330356	NM_000208.4(INSR):c.*4186T>C	INSR	Single nucleotide variant (3 prime UTR variant)	Leprechaunism syndrome +2 more	GBenign
Select item 330357	NM_000208.4(INSR):c.*3894G>A	INSR	Single nucleotide variant (3 prime UTR variant)	Leprechaunism syndrome +2 more	GUncertain significance
Select item 330358	NM_000208.4(INSR):c.*3877T>C	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GLikely benign
Select item 894132	NM_000208.4(INSR):c.*3858G>A	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 330359	NM_000208.4(INSR):c.*3857C>T	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GBenign
Select item 894525	NM_000208.4(INSR):c.*3855C>G	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 894526	NM_000208.4(INSR):c.*3786G>C	INSR	Single nucleotide variant (3 prime UTR variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +2 more	GBenign
Select item 330360	NM_000208.4(INSR):c.*3693G>A	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 330361	NM_000208.4(INSR):c.*3685T>C	INSR, LOC129391047	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GLikely benign
Select item 330362	NM_000208.4(INSR):c.*3654G>A	INSR, LOC129391047	Single nucleotide variant (3 prime UTR variant)	Leprechaunism syndrome +2 more	GUncertain significance
Select item 330363	NM_000208.4(INSR):c.*3623A>G	INSR, LOC129391047	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +3 more	GBenign
Select item 330364	NM_000208.4(INSR):c.*3592A>G	INSR, LOC129391047	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GBenign
Select item 330365	NM_000208.4(INSR):c.*3541C>T	INSR, LOC129391047	Single nucleotide variant (3 prime UTR variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +2 more	GBenign
Select item 330366	NM_000208.4(INSR):c.*3463A>G	INSR	Single nucleotide variant (3 prime UTR variant)	Leprechaunism syndrome +2 more	GBenign
Select item 330367	NM_000208.4(INSR):c.*3390CAA[4]	INSR	Microsatellite (3 prime UTR variant)	Leprechaunism syndrome +2 more	GUncertain significance
Select item 330368	NM_000208.4(INSR):c.*3365C>A	INSR	Single nucleotide variant (3 prime UTR variant)	Leprechaunism syndrome +2 more	GLikely benign
Select item 330369	NM_000208.4(INSR):c.*3359G>A	INSR	Single nucleotide variant (3 prime UTR variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +3 more	GLikely benign
Select item 330370	NM_000208.4(INSR):c.*3298C>T	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 894562	NM_000208.4(INSR):c.*3101C>G	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 330371	NM_000208.4(INSR):c.*3029T>C	INSR	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 893140	NM_000208.4(INSR):c.*3019C>A	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 893141	NM_000208.4(INSR):c.*3013C>G	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 330372	NM_000208.4(INSR):c.*3010del	INSR	Deletion (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 330374	NM_000208.4(INSR):c.3008_3009del	INSR	Deletion (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 330373	NM_000208.4(INSR):c.*3009del	INSR	Deletion (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 330375	NM_000208.4(INSR):c.*3008del	INSR	Deletion (3 prime UTR variant)	Leprechaunism syndrome +3 more	GUncertain significance
Select item 330376	NM_000208.4(INSR):c.*2854G>T	INSR	Single nucleotide variant (3 prime UTR variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +3 more	GBenign
Select item 330377	NM_000208.4(INSR):c.*2853T>C	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 330378	NM_000208.4(INSR):c.*2820G>A	INSR	Single nucleotide variant (3 prime UTR variant)	Leprechaunism syndrome +2 more	GLikely benign
Select item 330379	NM_000208.4(INSR):c.*2793C>A	INSR	Single nucleotide variant (3 prime UTR variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +2 more	GBenign
Select item 330380	NM_000208.4(INSR):c.*2779G>A	INSR	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 894593	NM_000208.4(INSR):c.*2752C>T	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 892569	NM_000208.4(INSR):c.*2752C>G	INSR	Single nucleotide variant (3 prime UTR variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +2 more	GUncertain significance
Select item 330381	NM_000208.4(INSR):c.*2633del	INSR	Deletion (3 prime UTR variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +2 more	GUncertain significance
Select item 892570	NM_000208.4(INSR):c.*2568G>A	INSR	Single nucleotide variant (3 prime UTR variant)	Leprechaunism syndrome +2 more	GUncertain significance
Select item 330382	NM_000208.4(INSR):c.*2565C>T	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GLikely benign
Select item 330383	NM_000208.4(INSR):c.*2519G>A	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GBenign
Select item 330384	NM_000208.4(INSR):c.*2517A>G	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 330385	NM_000208.4(INSR):c.*2502A>G	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GBenign
Select item 894216	NM_000208.4(INSR):c.*2475A>G	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 330386	NM_000208.4(INSR):c.*2464C>T	INSR	Single nucleotide variant (3 prime UTR variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +2 more	GUncertain significance
Select item 330387	NM_000208.4(INSR):c.*2456C>T	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GLikely benign
Select item 330388	NM_000208.4(INSR):c.*2405A>T	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 330389	NM_000208.4(INSR):c.*2340A>G	INSR	Single nucleotide variant (3 prime UTR variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +3 more	GBenign
Select item 894620	NM_000208.4(INSR):c.*2322G>A	INSR	Single nucleotide variant (3 prime UTR variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +2 more	GUncertain significance
Select item 330390	NM_000208.4(INSR):c.*2318G>A	INSR	Single nucleotide variant (3 prime UTR variant)	Leprechaunism syndrome +3 more	GConflicting classifications of pathogenicity
Select item 330391	NM_000208.4(INSR):c.*2255T>G	INSR	Single nucleotide variant (3 prime UTR variant)	Leprechaunism syndrome +2 more	GUncertain significance
Select item 330392	NM_000208.4(INSR):c.*2160G>T	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 330393	NM_000208.4(INSR):c.*2149C>T	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 330394	NM_000208.4(INSR):c.2145_2146dup	INSR	Duplication (3 prime UTR variant)	Leprechaunism syndrome +3 more	GUncertain significance
Select item 330395	NM_000208.4(INSR):c.*2136T>A	INSR	Single nucleotide variant (3 prime UTR variant)	Leprechaunism syndrome +2 more	GUncertain significance
Select item 893409	NM_000208.4(INSR):c.*2102T>C	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 893410	NM_000208.4(INSR):c.*2023A>G	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 330396	NM_000208.4(INSR):c.*2014C>T	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GLikely benign
Select item 330397	NM_000208.4(INSR):c.*2010G>A	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +3 more	GBenign
Select item 330398	NM_000208.4(INSR):c.1974_1975del	INSR	Deletion (3 prime UTR variant)	Leprechaunism syndrome +2 more	GBenign
Select item 330399	NM_000208.4(INSR):c.*1967G>A	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 894248	NM_000208.4(INSR):c.*1917G>C	INSR	Single nucleotide variant (3 prime UTR variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +2 more	GUncertain significance
Select item 894644	NM_000208.4(INSR):c.*1909A>G	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 330400	NM_000208.4(INSR):c.*1870C>G	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GLikely benign
Select item 892637	NM_000208.4(INSR):c.*1831C>A	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 892636	NM_000208.4(INSR):c.*1831C>T	INSR	Single nucleotide variant (3 prime UTR variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +2 more	GUncertain significance
Select item 330401	NM_000208.4(INSR):c.*1799C>T	INSR	Single nucleotide variant (3 prime UTR variant)	Leprechaunism syndrome +2 more	GLikely benign
Select item 330402	NM_000208.4(INSR):c.*1592G>A	INSR	Single nucleotide variant (3 prime UTR variant)	Leprechaunism syndrome +2 more	GUncertain significance
Select item 893439	NM_000208.4(INSR):c.*1591C>T	INSR	Single nucleotide variant (3 prime UTR variant)	Leprechaunism syndrome +2 more	GUncertain significance
Select item 893440	NM_000208.4(INSR):c.*1584C>G	INSR	Single nucleotide variant (3 prime UTR variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +2 more	GUncertain significance
Select item 893748	NM_000208.4(INSR):c.*1574G>A	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 893749	NM_000208.4(INSR):c.*1573C>T	INSR	Single nucleotide variant (3 prime UTR variant)	Leprechaunism syndrome +2 more	GUncertain significance
Select item 330403	NM_000208.4(INSR):c.*1525G>A	INSR	Single nucleotide variant (3 prime UTR variant)	Leprechaunism syndrome +2 more	GUncertain significance
Select item 330404	NM_000208.4(INSR):c.*1494G>A	INSR	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 330405	NM_000208.4(INSR):c.*1432C>T	INSR	Single nucleotide variant (3 prime UTR variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +2 more	GBenign
Select item 330406	NM_000208.4(INSR):c.*1416del	INSR	Deletion (3 prime UTR variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +2 more	GBenign
Select item 330407	NM_000208.4(INSR):c.*1192G>A	INSR	Single nucleotide variant (3 prime UTR variant)	Leprechaunism syndrome +2 more	GLikely benign
Select item 330408	NM_000208.4(INSR):c.*1191T>C	INSR	Single nucleotide variant (3 prime UTR variant)	Leprechaunism syndrome +2 more	GUncertain significance
Select item 892670	NM_000208.4(INSR):c.*1190A>G	INSR	Single nucleotide variant (3 prime UTR variant)	Leprechaunism syndrome +2 more	GUncertain significance
Select item 330409	NM_000208.4(INSR):c.*1171C>T	INSR	Single nucleotide variant (3 prime UTR variant)	Leprechaunism syndrome +2 more	GLikely benign
Select item 893473	NM_000208.4(INSR):c.*1137A>G	INSR	Single nucleotide variant (3 prime UTR variant)	Leprechaunism syndrome +2 more	GUncertain significance
Select item 330410	NM_000208.4(INSR):c.*1116G>A	INSR	Single nucleotide variant (3 prime UTR variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +2 more	GLikely benign
Select item 330411	NM_000208.4(INSR):c.*1089A>G	INSR	Single nucleotide variant (3 prime UTR variant)	Leprechaunism syndrome +2 more	GBenign

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