"PreventionGenetics, part of Exact Sciences"[submitter] AND "LMBR1"[ge - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2628457	NM_022458.4(LMBR1):c.758-2293G>C	LMBR1 (G275R)	Single nucleotide variant (missense variant +1 more)	LMBR1-related disorder	GUncertain significance
Select item 2633186	NM_022458.4(LMBR1):c.631G>A (p.Val211Ile)	LMBR1 (V118I +4 more)	Single nucleotide variant (missense variant +1 more)	LMBR1-related disorder	GUncertain significance
Select item 359433	NM_022458.4(LMBR1):c.432A>G (p.Arg144=)	LMBR1	Single nucleotide variant (synonymous variant +2 more)	Polydactyly of a triphalangeal thumb +1 more	GBenign/Likely benign
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 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 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 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 2633601	NM_022458.4(LMBR1):c.423+4844T>A	LMBR1, ZRS	Single nucleotide variant (intron variant)	LMBR1-related disorder	GUncertain significance
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 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 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 3049437	NM_022458.4(LMBR1):c.423+4235G>T	LMBR1, ZRS	Single nucleotide variant (intron variant)	LMBR1-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 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 3061261	NM_022458.4(LMBR1):c.423+4023A>T	LMBR1, ZRS	Single nucleotide variant (intron variant)	LMBR1-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 2632404	NM_022458.4(LMBR1):c.180_188delinsTGAACTGAGA (p.Leu61fs)	LMBR1 (L40fs +1 more)	Indel (frameshift variant +3 more)	LMBR1-related disorder	GUncertain significance