LMBR1[gene] - 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	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129998995, LOC129998996 +2212 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	LOC129999548, LOC129999549 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	CADPS2, CALD1 +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	TMEM139-AS1, TMEM140 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	MIR5707, MIR595 +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	LOC123956245, LOC123956246 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	LOC285889, LOC349160 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	ABCB8, ABCF2 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999467, LOC129999468 +944 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	LOC129999526, LOC129999527 +908 more	Copy number gain	See cases	GPathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	AGAP3, AGK +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	DYNC2I1, EN2 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	LOC129999649, LOC129999650 +737 more	Copy number loss	See cases	GPathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	LOC129389950, LOC129999513 +707 more	Copy number loss	See cases	GPathogenic
Select item 60302	GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1	LOC129389931, LOC129389932 +573 more	Copy number loss	See cases	GPathogenic
Select item 148943	GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1	TRC-GCA22-1, TRC-GCA23-1 +540 more	Copy number loss	See cases	GPathogenic
Select item 148263	GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1	LOC129999578, LOC129999579 +538 more	Copy number loss	See cases	GLikely pathogenic
Select item 60312	GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1	ABCB8, ABCF2 +533 more	Copy number loss	See cases	GPathogenic
Select item 148715	GRCh38/hg38 7q35-36.3(chr7:146047157-157522158)x1	ATG9B, ATP6V0E2 +473 more	Copy number loss	See cases	GPathogenic
Select item 155436	GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1	LOC129389937, LOC129389938 +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	LOC129999684, LOC129999685 +315 more	Copy number gain	See cases	GPathogenic
Select item 146896	GRCh38/hg38 7q36.1-36.3(chr7:151378879-158923762)x1	ACTR3B, BLACE +271 more	Copy number loss	See cases	GPathogenic
Select item 60314	GRCh38/hg38 7q36.1-36.3(chr7:152332476-159296617)x1	RBM33, RBM33-DT +226 more	Copy number loss	See cases	GPathogenic
Select item 150933	GRCh38/hg38 7q36.1-36.3(chr7:152428852-159335865)x3	LOC129999707, LOC129999708 +225 more	Copy number gain	See cases	GPathogenic
Select item 545343	NC_000007.14:g.(?_152454659)_(158705768_?)del	ACTR3B, BLACE +190 more	Deletion	Autism	GLikely pathogenic
Select item 147806	GRCh38/hg38 7q36.2-36.3(chr7:152807205-159325876)x1	ACTR3B, BLACE +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	LOC123956282, LOC123956283 +173 more	Copy number loss	See cases	GPathogenic
Select item 154568	GRCh38/hg38 7q36.3(chr7:155262313-159117047)x1	ESYT2, INSIG1 +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 2346094	NM_030936.4(RNF32):c.687C>G (p.Phe229Leu)	RNF32, LMBR1 (F229L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2411185	NM_030936.4(RNF32):c.722A>C (p.Asn241Thr)	LMBR1, RNF32 (N241T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2465824	NM_030936.4(RNF32):c.754G>A (p.Asp252Asn)	LMBR1, RNF32 (D252N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2373043	NM_030936.4(RNF32):c.805T>C (p.Cys269Arg)	LMBR1, RNF32 (C269R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2385861	NM_030936.4(RNF32):c.922G>A (p.Val308Met)	RNF32, LMBR1 (V308M)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2596472	NM_030936.4(RNF32):c.938G>A (p.Arg313His)	LMBR1, RNF32 (R313H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2211298	NM_030936.4(RNF32):c.1015G>A (p.Val339Met)	LMBR1, RNF32 (V339M)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2284385	NM_030936.4(RNF32):c.1071G>T (p.Lys357Asn)	LMBR1, RNF32 (K357N)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 369579	NM_022458.4(LMBR1):c.*3207T>G	LMBR1	Single nucleotide variant (3 prime UTR variant)	Polydactyly of a triphalangeal thumb	GBenign
Select item 912268	NM_022458.4(LMBR1):c.*3187A>G	LMBR1	Single nucleotide variant (3 prime UTR variant +1 more)	Polydactyly of a triphalangeal thumb	GUncertain significance
Select item 359368	NM_022458.4(LMBR1):c.*3180A>C	LMBR1	Single nucleotide variant (3 prime UTR variant +1 more)	Polydactyly of a triphalangeal thumb	GUncertain significance
Select item 359369	NM_022458.4(LMBR1):c.*2992dup	LMBR1	Duplication (3 prime UTR variant +1 more)	Triphalangeal thumb-polysyndactyly syndrome	GBenign
Select item 912269	NM_022458.4(LMBR1):c.*2948G>T	LMBR1	Single nucleotide variant (3 prime UTR variant +1 more)	Polydactyly of a triphalangeal thumb	GUncertain significance
Select item 359370	NM_022458.4(LMBR1):c.*2926G>C	LMBR1	Single nucleotide variant (3 prime UTR variant +1 more)	Polydactyly of a triphalangeal thumb	GBenign
Select item 359371	NM_022458.4(LMBR1):c.*2905T>A	LMBR1	Single nucleotide variant (3 prime UTR variant +1 more)	Polydactyly of a triphalangeal thumb	GBenign
Select item 359372	NM_022458.4(LMBR1):c.*2899A>T	LMBR1	Single nucleotide variant (3 prime UTR variant +1 more)	Polydactyly of a triphalangeal thumb	GUncertain significance
Select item 359373	NM_022458.4(LMBR1):c.*2820G>A	LMBR1	Single nucleotide variant (3 prime UTR variant +1 more)	Polydactyly of a triphalangeal thumb	GBenign
Select item 359374	NM_022458.4(LMBR1):c.*2798C>T	LMBR1	Single nucleotide variant (3 prime UTR variant +1 more)	Polydactyly of a triphalangeal thumb	GUncertain significance
Select item 359375	NM_022458.4(LMBR1):c.*2773G>T	LMBR1	Single nucleotide variant (3 prime UTR variant +1 more)	Polydactyly of a triphalangeal thumb	GUncertain significance
Select item 908270	NM_022458.4(LMBR1):c.*2771G>A	LMBR1	Single nucleotide variant (3 prime UTR variant +1 more)	Polydactyly of a triphalangeal thumb	GUncertain significance
Select item 359376	NM_022458.4(LMBR1):c.*2761G>A	LMBR1	Single nucleotide variant (3 prime UTR variant +1 more)	Polydactyly of a triphalangeal thumb	GBenign
Select item 359377	NM_022458.4(LMBR1):c.*2744G>T	LMBR1	Single nucleotide variant (3 prime UTR variant +1 more)	Polydactyly of a triphalangeal thumb	GUncertain significance
Select item 908271	NM_022458.4(LMBR1):c.*2706A>G	LMBR1	Single nucleotide variant (3 prime UTR variant +1 more)	Polydactyly of a triphalangeal thumb	GUncertain significance
Select item 359378	NM_022458.4(LMBR1):c.*2667A>T	LMBR1	Single nucleotide variant (3 prime UTR variant +1 more)	Polydactyly of a triphalangeal thumb	GBenign
Select item 908272	NM_022458.4(LMBR1):c.*2658T>C	LMBR1	Single nucleotide variant (3 prime UTR variant +1 more)	Polydactyly of a triphalangeal thumb	GUncertain significance
Select item 908273	NM_022458.4(LMBR1):c.*2609C>T	LMBR1	Single nucleotide variant (3 prime UTR variant +1 more)	Polydactyly of a triphalangeal thumb	GBenign
Select item 359379	NM_022458.4(LMBR1):c.*2603A>G	LMBR1	Single nucleotide variant (3 prime UTR variant +1 more)	Polydactyly of a triphalangeal thumb	GBenign
Select item 359380	NM_022458.4(LMBR1):c.*2596A>G	LMBR1	Single nucleotide variant (3 prime UTR variant +1 more)	Polydactyly of a triphalangeal thumb	GBenign
Select item 910210	NM_022458.4(LMBR1):c.*2519T>A	LMBR1	Single nucleotide variant (3 prime UTR variant +1 more)	Polydactyly of a triphalangeal thumb	GUncertain significance
Select item 359381	NM_022458.4(LMBR1):c.*2500A>G	LMBR1	Single nucleotide variant (3 prime UTR variant +1 more)	Polydactyly of a triphalangeal thumb	GUncertain significance
Select item 359382	NM_022458.4(LMBR1):c.*2489T>C	LMBR1	Single nucleotide variant (3 prime UTR variant +1 more)	Polydactyly of a triphalangeal thumb	GBenign
Select item 359383	NM_022458.4(LMBR1):c.*2477G>A	LMBR1	Single nucleotide variant (3 prime UTR variant +1 more)	Polydactyly of a triphalangeal thumb	GUncertain significance
Select item 910211	NM_022458.4(LMBR1):c.*2458A>G	LMBR1	Single nucleotide variant (3 prime UTR variant +1 more)	Polydactyly of a triphalangeal thumb	GUncertain significance
Select item 910212	NM_022458.4(LMBR1):c.*2451C>A	LMBR1	Single nucleotide variant (3 prime UTR variant +1 more)	Polydactyly of a triphalangeal thumb	GUncertain significance
Select item 359384	NM_022458.4(LMBR1):c.*2297C>T	LMBR1	Single nucleotide variant (3 prime UTR variant +1 more)	Polydactyly of a triphalangeal thumb	GBenign
Select item 911110	NM_022458.4(LMBR1):c.*2262G>A	LMBR1	Single nucleotide variant (3 prime UTR variant +1 more)	Polydactyly of a triphalangeal thumb	GUncertain significance
Select item 359385	NM_022458.4(LMBR1):c.*2198C>G	LMBR1	Single nucleotide variant (non-coding transcript variant +1 more)	Polydactyly of a triphalangeal thumb	GBenign
Select item 911111	NM_022458.4(LMBR1):c.*2147T>C	LMBR1	Single nucleotide variant (3 prime UTR variant +1 more)	Polydactyly of a triphalangeal thumb	GUncertain significance
Select item 359386	NM_022458.4(LMBR1):c.*2089G>A	LMBR1	Single nucleotide variant (3 prime UTR variant +1 more)	Polydactyly of a triphalangeal thumb	GBenign
Select item 911112	NM_022458.4(LMBR1):c.*2088C>T	LMBR1	Single nucleotide variant (3 prime UTR variant +1 more)	Polydactyly of a triphalangeal thumb	GUncertain significance
Select item 359387	NM_022458.4(LMBR1):c.*2081G>A	LMBR1	Single nucleotide variant (3 prime UTR variant +1 more)	Polydactyly of a triphalangeal thumb	GBenign
Select item 911113	NM_022458.4(LMBR1):c.*2080C>T	LMBR1	Single nucleotide variant (3 prime UTR variant +1 more)	Polydactyly of a triphalangeal thumb	GUncertain significance
Select item 359388	NM_022458.4(LMBR1):c.*2066G>C	LMBR1	Single nucleotide variant (3 prime UTR variant +1 more)	Polydactyly of a triphalangeal thumb	GBenign
Select item 359389	NM_022458.4(LMBR1):c.*2065A>G	LMBR1	Single nucleotide variant (3 prime UTR variant +1 more)	Polydactyly of a triphalangeal thumb	GBenign
Select item 911317	NM_022458.4(LMBR1):c.*2020T>C	LMBR1	Single nucleotide variant (3 prime UTR variant +1 more)	Polydactyly of a triphalangeal thumb	GUncertain significance
Select item 359390	NM_022458.4(LMBR1):c.*2016C>T	LMBR1	Single nucleotide variant (3 prime UTR variant +1 more)	Polydactyly of a triphalangeal thumb	GUncertain significance
Select item 359391	NM_022458.4(LMBR1):c.*1971A>T	LMBR1	Single nucleotide variant (non-coding transcript variant +1 more)	Polydactyly of a triphalangeal thumb	GBenign
Select item 359392	NM_022458.4(LMBR1):c.*1922A>G	LMBR1	Single nucleotide variant (3 prime UTR variant +1 more)	Polydactyly of a triphalangeal thumb	GBenign
Select item 359393	NM_022458.4(LMBR1):c.*1905C>G	LMBR1	Single nucleotide variant (3 prime UTR variant +1 more)	Polydactyly of a triphalangeal thumb	GBenign
Select item 359394	NM_022458.4(LMBR1):c.*1862T>A	LMBR1	Single nucleotide variant (3 prime UTR variant +1 more)	Polydactyly of a triphalangeal thumb	GUncertain significance
Select item 908331	NM_022458.4(LMBR1):c.*1841T>A	LMBR1	Single nucleotide variant (3 prime UTR variant +1 more)	Polydactyly of a triphalangeal thumb	GUncertain significance
Select item 359395	NM_022458.4(LMBR1):c.*1797G>C	LMBR1	Single nucleotide variant (non-coding transcript variant +1 more)	Polydactyly of a triphalangeal thumb	GBenign
Select item 359396	NM_022458.4(LMBR1):c.*1785dup	LMBR1	Duplication (3 prime UTR variant +1 more)	Triphalangeal thumb-polysyndactyly syndrome	GBenign
Select item 908332	NM_022458.4(LMBR1):c.*1608C>T	LMBR1	Single nucleotide variant (3 prime UTR variant +1 more)	Polydactyly of a triphalangeal thumb	GUncertain significance
Select item 908333	NM_022458.4(LMBR1):c.*1560T>A	LMBR1	Single nucleotide variant (3 prime UTR variant +1 more)	Polydactyly of a triphalangeal thumb	GUncertain significance
Select item 359397	NM_022458.4(LMBR1):c.*1534A>G	LMBR1	Single nucleotide variant (3 prime UTR variant +1 more)	Polydactyly of a triphalangeal thumb	GUncertain significance

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