Related gene-specific medical variations for Gene (Select 64327) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3314894	NM_030936.4(RNF32):c.695T>C (p.Ile232Thr)	LMBR1, RNF32 (I232T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314891	NM_030936.4(RNF32):c.860G>A (p.Arg287His)	LMBR1, RNF32 (R287H)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3290892	NM_022458.4(LMBR1):c.61T>C (p.Ser21Pro)	LMBR1, LOC129999727 (S21P +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3245929	NC_000007.13:g.(?_156583771)_(156589206_?)dup	LMBR1	Duplication	not provided	GLikely pathogenic
Select item 3155407	NM_030936.4(RNF32):c.986C>T (p.Ala329Val)	LMBR1, RNF32 (A329V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3155406	NM_030936.4(RNF32):c.953C>T (p.Ala318Val)	LMBR1, RNF32 (A318V)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3155404	NM_030936.4(RNF32):c.803A>T (p.Lys268Ile)	LMBR1, RNF32 (K268I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155403	NM_030936.4(RNF32):c.689C>T (p.Thr230Ile)	LMBR1, RNF32 (T230I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155400	NM_030936.4(RNF32):c.1078C>T (p.Leu360Phe)	LMBR1, RNF32 (L360F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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 3061261	NM_022458.4(LMBR1):c.423+4023A>T	LMBR1, ZRS	Single nucleotide variant (intron variant)	LMBR1-related disorder	GLikely benign
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 3049437	NM_022458.4(LMBR1):c.423+4235G>T	LMBR1, ZRS	Single nucleotide variant (intron variant)	LMBR1-related disorder	GLikely benign
Select item 3048216	NM_022458.4(LMBR1):c.423+4147A>G	LMBR1, SHH +1 more	Single nucleotide variant (intron variant)	SHH-related disorder	GUncertain significance
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 3039350	NM_022458.4(LMBR1):c.423+4149G>A	LMBR1, ZRS	Single nucleotide variant (intron variant)	LMBR1-related disorder	GLikely benign
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 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 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 3029279	NM_022458.4(LMBR1):c.423+3622G>T	LMBR1, SHH +1 more	Single nucleotide variant (intron variant)	SHH-related disorder	GLikely benign
Select item 3014705	NM_022458.4(LMBR1):c.423+5285G>A	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	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 2957676	NM_022458.4(LMBR1):c.423+3537A>G	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955816	NM_022458.4(LMBR1):c.423+3863G>C	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 2712706	NM_022458.4(LMBR1):c.423+5082T>G	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2711703	NM_022458.4(LMBR1):c.423+4831T>A	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	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 2633877	NM_022458.4(LMBR1):c.423+5362C>T	LMBR1, ZRS	Single nucleotide variant (intron variant)	LMBR1-related disorder	GUncertain significance
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 2596472	NM_030936.4(RNF32):c.938G>A (p.Arg313His)	LMBR1, RNF32 (R313H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2501308	NM_022458.4(LMBR1):c.423+5284C>T	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2465824	NM_030936.4(RNF32):c.754G>A (p.Asp252Asn)	LMBR1, RNF32 (D252N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411185	NM_030936.4(RNF32):c.722A>C (p.Asn241Thr)	LMBR1, RNF32 (N241T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385861	NM_030936.4(RNF32):c.922G>A (p.Val308Met)	LMBR1, RNF32 (V308M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2373043	NM_030936.4(RNF32):c.805T>C (p.Cys269Arg)	LMBR1, RNF32 (C269R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346094	NM_030936.4(RNF32):c.687C>G (p.Phe229Leu)	LMBR1, RNF32 (F229L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298838	NM_022458.4(LMBR1):c.19G>A (p.Val7Met)	LMBR1, LOC129999727 (V7M +1 more)	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)	not specified	GUncertain significance
Select item 2211298	NM_030936.4(RNF32):c.1015G>A (p.Val339Met)	LMBR1, RNF32 (V339M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2190312	NM_022458.4(LMBR1):c.423+5195G>C	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 2179408	NM_022458.4(LMBR1):c.423+4584T>C	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 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 2110099	NM_022458.4(LMBR1):c.423+3706T>C	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	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 2074918	NM_022458.4(LMBR1):c.423+4543C>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 1988671	NM_022458.4(LMBR1):c.423+3908del	LMBR1, ZRS	Deletion (intron variant)	not provided	GLikely benign
Select item 1929405	NM_022458.4(LMBR1):c.423+5256T>G	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 1897462	NM_022458.4(LMBR1):c.423+3768A>G	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1896192	NM_022458.4(LMBR1):c.423+3575C>T	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1661009	NM_022458.4(LMBR1):c.423+5045A>G	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1629203	NM_022458.4(LMBR1):c.423+3777C>T	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 1600390	NM_022458.4(LMBR1):c.423+5061dup	LMBR1, ZRS	Duplication (intron variant)	not provided	GBenign
Select item 1359147	NM_022458.4(LMBR1):c.423+3747A>G	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1310158	NM_022458.4(LMBR1):c.423+4916T>C	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1293912	NM_022458.4(LMBR1):c.66+172_66+176del	LMBR1, LOC129999726	Deletion (intron variant)	not provided	GBenign
Select item 1288006	NM_022458.4(LMBR1):c.66+75dup	LMBR1, LOC129999727	Duplication (intron variant)	not provided	GBenign
Select item 1287664	NM_022458.4(LMBR1):c.423+4179G>A	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279263	NM_022458.4(LMBR1):c.423+3899G>C	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274424	NM_022458.4(LMBR1):c.66+229del	LMBR1, LOC129999726	Deletion (intron variant)	not provided	GBenign
Select item 1266343	NM_022458.4(LMBR1):c.66+223C>T	LMBR1, LOC129999726	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252909	NM_022458.4(LMBR1):c.423+3946T>C	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251310	NM_022458.4(LMBR1):c.66+209G>C	LMBR1, LOC129999726	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248958	NM_022458.4(LMBR1):c.66+77T>G	LMBR1, LOC129999727	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234860	NM_022458.4(LMBR1):c.66+30T>C	LMBR1, LOC129999727	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225195	NM_022458.4(LMBR1):c.66+227C>G	LMBR1, LOC129999726	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223271	NM_022458.4(LMBR1):c.66+77_66+83del	LMBR1, LOC129999727	Deletion (intron variant)	not provided	GBenign
Select item 1222226	NM_022458.4(LMBR1):c.66+32C>T	LMBR1, LOC129999727	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218154	NM_022458.4(LMBR1):c.423+4218T>C	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208440	NM_022458.4(LMBR1):c.66+192C>T	LMBR1, LOC129999726	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191081	NM_022458.4(LMBR1):c.66+58C>T	LMBR1, LOC129999727	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1184853	Single allele	LMBR1	Deletion	Acheiropodia	GLikely pathogenic
Select item 908468	NM_022458.4(LMBR1):c.-146C>T	LMBR1, LOC129999727	Single nucleotide variant (5 prime UTR variant +1 more)	Polydactyly of a triphalangeal thumb	GUncertain significance
Select item 908467	NM_022458.4(LMBR1):c.-91C>G	LMBR1, LOC129999727	Single nucleotide variant (5 prime UTR variant +1 more)	Polydactyly of a triphalangeal thumb	GBenign
Select item 788546	NM_022458.4(LMBR1):c.423+5311T>C	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	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 774197	NM_022458.4(LMBR1):c.423+4468A>C	LMBR1, SHH +1 more	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GBenign
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)	SHH-related disorder +1 more	GBenign/Likely benign
Select item 669009	NM_022458.4(LMBR1):c.423+5020C>G	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 515097	NM_022458.4(LMBR1):c.423+5176A>G	LMBR1, SHH +1 more	Single nucleotide variant (intron variant)	not specified +1 more	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 359444	NM_022458.4(LMBR1):c.-183GCT[1]	LMBR1, LOC129999727	Microsatellite (5 prime UTR variant +1 more)	Triphalangeal thumb-polysyndactyly syndrome +1 more	GBenign
Select item 359443	NM_022458.4(LMBR1):c.-176G>A	LMBR1, LOC129999727	Single nucleotide variant (5 prime UTR variant +1 more)	Polydactyly of a triphalangeal thumb	GUncertain significance
Select item 359442	NM_022458.4(LMBR1):c.-158G>A	LMBR1, LOC129999727	Single nucleotide variant (5 prime UTR variant +1 more)	Polydactyly of a triphalangeal thumb	GUncertain significance
Select item 359441	NM_022458.4(LMBR1):c.-154G>A	LOC129999727, LMBR1	Single nucleotide variant (5 prime UTR variant +1 more)	Polydactyly of a triphalangeal thumb	GUncertain significance
Select item 359440	NM_022458.4(LMBR1):c.16G>A (p.Glu6Lys)	LMBR1, LOC129999727 (E6K +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 359439	NM_022458.4(LMBR1):c.52G>T (p.Val18Leu)	LMBR1, LOC129999727 (V18L +1 more)	Single nucleotide variant (missense variant +2 more)	Polydactyly of a triphalangeal thumb	GLikely benign
Select item 359438	NM_022458.4(LMBR1):c.61T>A (p.Ser21Thr)	LMBR1, LOC129999727 (S21T +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 155923	NM_022458.4(LMBR1):c.423+4919A>G	LMBR1, ZRS	Single nucleotide variant (intron variant)	Tibia, hypoplasia or aplasia of, with polydactyly	GPathogenic
Select item 155922	LMBR1, 73-KB DUP	LMBR1	Duplication	Syndactyly type 4	GPathogenic
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 126371	NM_022458.4(LMBR1):c.423+4915C>T	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 100875	NM_022458.4(LMBR1):c.460C>A (p.Leu154Ile)	LMBR1 (L154I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 30496	NM_022458.4(LMBR1):c.423+4810G>A	LMBR1, ZRS	Single nucleotide variant (intron variant)	Polydactyly of a triphalangeal thumb	GPathogenic

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