105804841[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	TRC-GCA9-3, TRC-GCA9-4 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	ABCB8, ABCF2 +737 more	Copy number loss	See cases	GPathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	LOC129999721, LOC129999722 +707 more	Copy number loss	See cases	GPathogenic
Select item 60302	GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1	LOC129999681, LOC129999682 +573 more	Copy number loss	See cases	GPathogenic
Select item 148943	GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1	ABCB8, ABCF2 +540 more	Copy number loss	See cases	GPathogenic
Select item 148263	GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1	LOC129999684, LOC129999685 +538 more	Copy number loss	See cases	GLikely pathogenic
Select item 60312	GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1	LOC129999655, LOC129999656 +533 more	Copy number loss	See cases	GPathogenic
Select item 148715	GRCh38/hg38 7q35-36.3(chr7:146047157-157522158)x1	ABCB8, ABCF2 +473 more	Copy number loss	See cases	GPathogenic
Select item 155436	GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1	UBE3C, VIPR2 +526 more	Copy number loss	See cases	GPathogenic
Select item 57408	GRCh38/hg38 7q35-36.3(chr7:147250465-159325876)x1	ABCB8, ABCF2 +526 more	Copy number loss	See cases	GPathogenic
Select item 154525	GRCh38/hg38 7q36.1-36.3(chr7:150260297-159325876)x1	ABCB8, ABCF2 +407 more	Copy number loss	See cases	GPathogenic
Select item 146852	GRCh38/hg38 7q36.1-36.3(chr7:150486071-159335865)x1	ABCB8, ABCF2 +375 more	Copy number loss	See cases	GPathogenic
Select item 148391	GRCh38/hg38 7q36.1-36.3(chr7:150802801-159335866)x1	ABCB8, ABCF2 +351 more	Copy number loss	See cases	GPathogenic
Select item 147505	GRCh38/hg38 7q36.1-36.3(chr7:151104277-159325876)x3	ABCF2, ABCF2-H2BK1 +315 more	Copy number gain	See cases	GPathogenic
Select item 146896	GRCh38/hg38 7q36.1-36.3(chr7:151378879-158923762)x1	LOC129389944, LOC129389945 +271 more	Copy number loss	See cases	GPathogenic
Select item 60314	GRCh38/hg38 7q36.1-36.3(chr7:152332476-159296617)x1	ACTR3B, BLACE +226 more	Copy number loss	See cases	GPathogenic
Select item 150933	GRCh38/hg38 7q36.1-36.3(chr7:152428852-159335865)x3	ACTR3B, BLACE +225 more	Copy number gain	See cases	GPathogenic
Select item 545343	NC_000007.14:g.(?_152454659)_(158705768_?)del	LOC126860233, LOC129999706 +190 more	Deletion	Autism	GLikely pathogenic
Select item 147806	GRCh38/hg38 7q36.2-36.3(chr7:152807205-159325876)x1	EN2-DT, ESYT2 +207 more	Copy number loss	See cases	GPathogenic
Select item 146922	GRCh38/hg38 7q36.2-36.3(chr7:152860576-159325876)x1	BLACE, CNPY1 +205 more	Copy number loss	See cases	GPathogenic
Select item 60315	GRCh38/hg38 7q36.2-36.3(chr7:152918472-159307523)x1	BLACE, CNPY1 +204 more	Copy number loss	See cases	GPathogenic
Select item 60316	GRCh38/hg38 7q36.2-36.3(chr7:152920128-159332714)x1	BLACE, CNPY1 +205 more	Copy number loss	See cases	GPathogenic
Select item 146559	GRCh38/hg38 7q36.2-36.3(chr7:153908499-159325876)x1	BLACE, CNPY1 +195 more	Copy number loss	See cases	GPathogenic
Select item 2579275	GRCh38/hg38 7q36.2-36.3(chr7:154446117-159206757)x1	BLACE, CNPY1 +193 more	Copy number loss	Holoprosencephaly 3	GPathogenic
Select item 147399	GRCh38/hg38 7q36.2-36.3(chr7:154939710-159325876)x1	BLACE, CNPY1 +186 more	Copy number loss	See cases	GPathogenic
Select item 57200	GRCh38/hg38 7q36.2-36.3(chr7:155007022-159135526)x1	BLACE, CNPY1 +173 more	Copy number loss	See cases	GPathogenic
Select item 154568	GRCh38/hg38 7q36.3(chr7:155262313-159117047)x1	BLACE, CNPY1 +161 more	Copy number loss	See cases	GPathogenic
Select item 149109	GRCh38/hg38 7q36.3(chr7:155379296-159335866)x3	CNPY1, DNAJB6 +156 more	Copy number gain	See cases	GLikely pathogenic
Select item 146358	GRCh38/hg38 7q36.3(chr7:155501171-159325876)x1	CNPY1, DNAJB6 +150 more	Copy number loss	See cases	GPathogenic
Select item 152725	GRCh38/hg38 7q36.3(chr7:155574967-159335866)x1	DNAJB6, DYNC2I1 +148 more	Copy number loss	See cases	GPathogenic
Select item 4904	NC_000007.14:g.156350691_156939511dup	LINC00244, LMBR1 +22 more	Duplication	Triphalangeal thumb-polysyndactyly syndrome	GPathogenic
Select item 4901	NG_009240.1:g.(71605_101850)_(134420_151298)dup	LMBR1, LOC113687207 +5 more	Duplication	Triphalangeal thumb-polysyndactyly syndrome	GPathogenic
Select item 157547	NC_000007.14:g.156771162_156817938dup	LOC129999725, ZRS +2 more	Duplication	Laurin-Sandrow syndrome	GPathogenic
Select item 157548	NC_000007.14:g.156778086_156854056dup	LMBR1, LOC129999724 +2 more	Duplication	Laurin-Sandrow syndrome	GPathogenic
Select item 157546	NM_022458.3(LMBR1):c.320-5565_423+10975dup	LMBR1, ZRS	Duplication	Laurin-Sandrow syndrome	GPathogenic
Select item 2633877	NM_022458.4(LMBR1):c.423+5362C>T	LMBR1, ZRS	Single nucleotide variant (intron variant)	LMBR1-related disorder	GUncertain significance
Select item 3035855	NM_022458.4(LMBR1):c.423+5355A>G	LMBR1, SHH +1 more	Single nucleotide variant (intron variant)	SHH-related disorder	GLikely benign
Select item 788546	NM_022458.4(LMBR1):c.423+5311T>C	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3014705	NM_022458.4(LMBR1):c.423+5285G>A	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2501308	NM_022458.4(LMBR1):c.423+5284C>T	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3031007	NM_022458.4(LMBR1):c.423+5277A>G	LMBR1, SHH +1 more	Single nucleotide variant (intron variant)	SHH-related disorder	GUncertain significance
Select item 1929405	NM_022458.4(LMBR1):c.423+5256T>G	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 4902	NM_022458.4(LMBR1):c.423+5252A>G	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 3045218	NM_022458.4(LMBR1):c.423+5205A>C	LMBR1, SHH +1 more	Single nucleotide variant (intron variant)	SHH-related disorder	GLikely benign
Select item 2190312	NM_022458.4(LMBR1):c.423+5195G>C	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 515097	NM_022458.4(LMBR1):c.423+5176A>G	LMBR1, SHH +1 more	Single nucleotide variant (intron variant)	Holoprosencephaly 3 +1 more	GLikely benign
Select item 2077501	NM_022458.4(LMBR1):c.423+5155G>T	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 4903	NM_022458.4(LMBR1):c.423+5134C>G	LMBR1, ZRS	Single nucleotide variant (intron variant)	Polydactyly of a triphalangeal thumb +1 more	GPathogenic
Select item 2712706	NM_022458.4(LMBR1):c.423+5082T>G	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1628003	NM_022458.4(LMBR1):c.423+5072A>G	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2865245	NM_022458.4(LMBR1):c.423+5068G>A	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1600390	NM_022458.4(LMBR1):c.423+5061dup	LMBR1, ZRS	Duplication (intron variant)	not provided	GBenign
Select item 1661009	NM_022458.4(LMBR1):c.423+5045A>G	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2167219	NM_022458.4(LMBR1):c.423+5034A>G	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669009	NM_022458.4(LMBR1):c.423+5020C>G	ZRS, LMBR1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 3029691	NM_022458.4(LMBR1):c.423+4927A>G	LMBR1, SHH +1 more	Single nucleotide variant (intron variant)	SHH-related disorder	GLikely benign
Select item 155923	NM_022458.4(LMBR1):c.423+4919A>G	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 155921	NM_022458.4(LMBR1):c.423+4917G>C	LMBR1, ZRS	Single nucleotide variant (intron variant)	Tibia, hypoplasia or aplasia of, with polydactyly	GPathogenic
Select item 4898	NM_022458.4(LMBR1):c.423+4917G>A	LMBR1, ZRS	Single nucleotide variant (intron variant)	Tibia, hypoplasia or aplasia of, with polydactyly	GPathogenic
Select item 1310158	NM_022458.4(LMBR1):c.423+4916T>C	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 126371	NM_022458.4(LMBR1):c.423+4915C>T	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 4907	NM_022458.4(LMBR1):c.423+4909C>T	LMBR1, ZRS	Single nucleotide variant (intron variant)	Polydactyly of a triphalangeal thumb	GPathogenic
Select item 30497	NM_022458.4(LMBR1):c.423+4847T>G	LMBR1, ZRS	Single nucleotide variant (intron variant)	Polydactyly of a triphalangeal thumb	GPathogenic
Select item 2633601	NM_022458.4(LMBR1):c.423+4844T>A	LMBR1, ZRS	Single nucleotide variant (intron variant)	LMBR1-related disorder	GUncertain significance
Select item 4900	NM_022458.4(LMBR1):c.423+4842T>C	LMBR1, ZRS	Single nucleotide variant (intron variant)	Triphalangeal thumb +1 more	GPathogenic
Select item 3061990	NM_022458.4(LMBR1):c.423+4841C>G	ZRS, LMBR1	Single nucleotide variant (intron variant)	Polydactyly of a triphalangeal thumb	GPathogenic
Select item 2711703	NM_022458.4(LMBR1):c.423+4831T>A	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 4899	NM_022458.4(LMBR1):c.423+4818A>T	LMBR1, ZRS	Single nucleotide variant (intron variant)	Polydactyly of a triphalangeal thumb	GPathogenic
Select item 30496	NM_022458.4(LMBR1):c.423+4810G>A	LMBR1, ZRS	Single nucleotide variant (intron variant)	Polydactyly of a triphalangeal thumb	GPathogenic
Select item 4906	NM_022458.4(LMBR1):c.423+4808T>C	ZRS, LMBR1	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 3054726	NM_022458.4(LMBR1):c.423+4801A>G	LMBR1, SHH +1 more	Single nucleotide variant (intron variant)	SHH-related disorder	GLikely benign
Select item 2982563	NM_022458.4(LMBR1):c.423+4800C>T	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2034460	NM_022458.4(LMBR1):c.423+4794A>G	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2181297	NM_022458.4(LMBR1):c.423+4768G>T	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2142213	NM_022458.4(LMBR1):c.423+4656A>G	LMBR1, SHH +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2703470	NM_022458.4(LMBR1):c.423+4628G>A	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 4897	NM_022458.4(LMBR1):c.423+4618C>G	LMBR1, ZRS	Single nucleotide variant (intron variant)	Polydactyly of a triphalangeal thumb	GPathogenic
Select item 2179408	NM_022458.4(LMBR1):c.423+4584T>C	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 426635	NM_022458.4(LMBR1):c.423+4545T>C	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2074918	NM_022458.4(LMBR1):c.423+4543C>T	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 768220	NM_022458.4(LMBR1):c.423+4516C>G	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 734130	NM_022458.4(LMBR1):c.423+4505A>G	LMBR1, SHH +1 more	Single nucleotide variant (intron variant)	Holoprosencephaly 3 +1 more	GBenign/Likely benign
Select item 774197	NM_022458.4(LMBR1):c.423+4468A>C	LMBR1, SHH +1 more	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GBenign
Select item 774198	NM_022458.4(LMBR1):c.423+4458T>C	LMBR1, SHH +1 more	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GBenign
Select item 3049437	NM_022458.4(LMBR1):c.423+4235G>T	LMBR1, ZRS	Single nucleotide variant (intron variant)	LMBR1-related disorder	GLikely benign
Select item 1218154	NM_022458.4(LMBR1):c.423+4218T>C	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287664	NM_022458.4(LMBR1):c.423+4179G>A	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	GBenign

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