ClinVar for MedGen (Select 1830424) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 359445	NM_022458.3(LMBR1):c.-215_-214insCCCCGCCCCCG	LMBR1, LOC129999727	Microsatellite	not provided +1 more	GBenign/Likely benign
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 359415	NM_022458.4(LMBR1):c.*136dup	LMBR1	Duplication (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 359403	NM_022458.4(LMBR1):c.*1338dup	LMBR1	Duplication (3 prime UTR variant +1 more)	Triphalangeal thumb-polysyndactyly syndrome	GUncertain significance
Select item 359396	NM_022458.4(LMBR1):c.*1785dup	LMBR1	Duplication (3 prime UTR variant +1 more)	Triphalangeal thumb-polysyndactyly syndrome	GBenign
Select item 359369	NM_022458.4(LMBR1):c.*2992dup	LMBR1	Duplication (3 prime UTR variant +1 more)	Triphalangeal thumb-polysyndactyly syndrome	GBenign
Select item 155923	NM_022458.4(LMBR1):c.423+4919A>G	LMBR1, ZRS	Single nucleotide variant (intron variant)	Acheiropodia +6 more	GLikely pathogenic
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

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