IMPG2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 155192	GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)x3	LOC112935964, LOC112935965 +171 more	Copy number gain	See cases	GLikely pathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ABHD10, ABI3BP +431 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +398 more	Copy number loss	See cases	GPathogenic
Select item 155079	GRCh38/hg38 3q12.2-12.3(chr3:100828503-101465000)x1	ABI3BP, IMPG2 +3 more	Copy number loss	See cases	GUncertain significance
Select item 901174	NM_016247.4(IMPG2):c.*4374A>G	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 901175	NM_016247.4(IMPG2):c.*4143A>G	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 342272	NM_016247.4(IMPG2):c.*4121T>G	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GBenign
Select item 342273	NM_016247.4(IMPG2):c.*4108G>C	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 342274	NM_016247.4(IMPG2):c.*4060C>A	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 901176	NM_016247.4(IMPG2):c.*3974A>G	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 901728	NM_016247.4(IMPG2):c.*3949C>T	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 342275	NM_016247.4(IMPG2):c.*3825G>A	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 342276	NM_016247.4(IMPG2):c.*3824C>T	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 342277	NM_016247.4(IMPG2):c.*3780T>A	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GBenign
Select item 342278	NM_016247.4(IMPG2):c.*3774G>A	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 901729	NM_016247.4(IMPG2):c.*3773C>T	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 902635	NM_016247.4(IMPG2):c.*3740C>T	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 902636	NM_016247.4(IMPG2):c.*3658C>T	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 342279	NM_016247.4(IMPG2):c.*3625GTTTT[1]	IMPG2	Microsatellite (3 prime UTR variant)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 902637	NM_016247.4(IMPG2):c.*3624T>G	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 342281	NM_016247.4(IMPG2):c.*3619C>A	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 342280	NM_016247.4(IMPG2):c.*3619C>T	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 342282	NM_016247.4(IMPG2):c.*3599A>G	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 342283	NM_016247.4(IMPG2):c.*3514C>T	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 902638	NM_016247.4(IMPG2):c.*3467G>A	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 900084	NM_016247.4(IMPG2):c.*3287C>G	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 342284	NM_016247.4(IMPG2):c.*3235C>A	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 900085	NM_016247.4(IMPG2):c.*3152T>C	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 900086	NM_016247.4(IMPG2):c.*3103G>T	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 342285	NM_016247.4(IMPG2):c.*3049G>A	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 342286	NM_016247.4(IMPG2):c.*3007G>A	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 900087	NM_016247.4(IMPG2):c.*2966C>T	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 900088	NM_016247.4(IMPG2):c.*2917G>A	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GBenign
Select item 901246	NM_016247.4(IMPG2):c.*2909C>T	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 342287	NM_016247.4(IMPG2):c.*2885C>A	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 901247	NM_016247.4(IMPG2):c.*2869C>T	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 901248	NM_016247.4(IMPG2):c.*2838G>C	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 342288	NM_016247.4(IMPG2):c.*2790G>T	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 901249	NM_016247.4(IMPG2):c.*2781C>T	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 901250	NM_016247.4(IMPG2):c.*2682T>C	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 342289	NM_016247.4(IMPG2):c.*2658G>T	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 342290	NM_016247.4(IMPG2):c.*2653T>C	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 342291	NM_016247.4(IMPG2):c.*2622A>G	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 342292	NM_016247.4(IMPG2):c.*2612T>A	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 901788	NM_016247.4(IMPG2):c.*2592T>C	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 342293	NM_016247.4(IMPG2):c.*2566del	IMPG2	Deletion (3 prime UTR variant)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 342294	NM_016247.4(IMPG2):c.*2435T>C	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 901789	NM_016247.4(IMPG2):c.*2385T>A	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 342295	NM_016247.4(IMPG2):c.*2332T>C	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 901790	NM_016247.4(IMPG2):c.*2329T>C	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 342296	NM_016247.4(IMPG2):c.*2278C>G	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 342297	NM_016247.4(IMPG2):c.*2242G>A	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 902696	NM_016247.4(IMPG2):c.*2174C>T	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 902697	NM_016247.4(IMPG2):c.*2042G>C	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 342298	NM_016247.4(IMPG2):c.*1954G>A	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 342299	NM_016247.4(IMPG2):c.*1737T>C	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GBenign
Select item 902698	NM_016247.4(IMPG2):c.*1735C>T	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 902699	NM_016247.4(IMPG2):c.*1719A>G	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 900146	NM_016247.4(IMPG2):c.*1600C>T	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 900147	NM_016247.4(IMPG2):c.*1599G>A	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 342300	NM_016247.4(IMPG2):c.*1598C>T	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 342301	NM_016247.4(IMPG2):c.*1595G>A	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 342302	NM_016247.4(IMPG2):c.*1589A>G	IMPG2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 342303	NM_016247.4(IMPG2):c.*1578C>T	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 342304	NM_016247.4(IMPG2):c.*1554C>T	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 900148	NM_016247.4(IMPG2):c.*1551G>A	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 342305	NM_016247.4(IMPG2):c.*1542A>T	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 342306	NM_016247.4(IMPG2):c.*1447C>T	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 342307	NM_016247.4(IMPG2):c.*1282C>T	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 901313	NM_016247.4(IMPG2):c.*1162T>C	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 901314	NM_016247.4(IMPG2):c.*944A>G	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 901315	NM_016247.4(IMPG2):c.*898T>G	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 342308	NM_016247.4(IMPG2):c.*881T>C	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GBenign
Select item 901316	NM_016247.4(IMPG2):c.*874T>C	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 901860	NM_016247.4(IMPG2):c.*868C>T	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 342309	NM_016247.4(IMPG2):c.*836A>G	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 342310	NM_016247.4(IMPG2):c.*810C>T	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 342311	NM_016247.4(IMPG2):c.*690TA[29]	IMPG2	Microsatellite (3 prime UTR variant)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 2654006	NM_016247.4(IMPG2):c.*690TA[5]	IMPG2	Microsatellite (3 prime UTR variant)	not provided	GLikely benign
Select item 342314	NM_016247.4(IMPG2):c.*690TA[24]	IMPG2	Microsatellite (3 prime UTR variant)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 342313	NM_016247.4(IMPG2):c.*690TA[25]	IMPG2	Microsatellite (3 prime UTR variant)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 342312	NM_016247.4(IMPG2):c.*690TA[26]	IMPG2	Microsatellite (3 prime UTR variant)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 342315	NM_016247.4(IMPG2):c.685_726delinsGTGC	IMPG2	Indel (3 prime UTR variant)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 901861	NM_016247.4(IMPG2):c.*685A>G	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 901862	NM_016247.4(IMPG2):c.*569G>C	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 342316	NM_016247.4(IMPG2):c.*568C>A	IMPG2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 901863	NM_016247.4(IMPG2):c.*565A>T	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 901864	NM_016247.4(IMPG2):c.*563G>T	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 342317	NM_016247.4(IMPG2):c.*551dup	IMPG2	Duplication (3 prime UTR variant)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 342318	NM_016247.4(IMPG2):c.*471A>T	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 342319	NM_016247.4(IMPG2):c.*446G>A	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 342320	NM_016247.4(IMPG2):c.*444G>A	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 342321	NM_016247.4(IMPG2):c.*430T>C	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 342322	NM_016247.4(IMPG2):c.*426G>A	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 342323	NM_016247.4(IMPG2):c.*388A>G	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 342324	NM_016247.4(IMPG2):c.*380C>A	IMPG2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 342325	NM_016247.4(IMPG2):c.*372A>C	IMPG2	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance

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