Related gene-specific medical variations for Gene (Select 83938) - ClinVar

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Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245012	NC_000010.10:g.(?_77795746)_(77818561_?)del	LRMDA	Deletion	not provided	GPathogenic
Select item 2769214	NM_001305581.2(LRMDA):c.231G>A (p.Leu77=)	LOC110121427, LRMDA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2428395	NM_001305581.2(LRMDA):c.258+4T>C	LOC110121427, LRMDA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2414240	NM_001305581.2(LRMDA):c.216A>G (p.Pro72=)	LOC110121427, LRMDA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2140057	NM_001305581.2(LRMDA):c.208G>A (p.Val70Met)	LOC110121427, LRMDA (V42M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2131325	NM_001305581.2(LRMDA):c.178T>C (p.Leu60=)	LOC110121427, LRMDA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2125281	NM_001305581.2(LRMDA):c.206T>G (p.Leu69Arg)	LOC110121427, LRMDA (L41R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2123554	NM_001305581.2(LRMDA):c.258+5C>T	LRMDA, LOC110121427	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2112014	NM_001305581.2(LRMDA):c.154T>A (p.Phe52Ile)	LOC110121427, LRMDA (F52I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2041449	NM_001305581.2(LRMDA):c.236C>T (p.Thr79Ile)	LOC110121427, LRMDA (T51I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2020569	NM_001305581.2(LRMDA):c.158G>C (p.Arg53Thr)	LOC110121427, LRMDA (R53T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1978952	NM_001305581.2(LRMDA):c.237C>T (p.Thr79=)	LRMDA, LOC110121427	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1968604	NM_001305581.2(LRMDA):c.253A>G (p.Asn85Asp)	LOC110121427, LRMDA (N57D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1968603	NM_001305581.2(LRMDA):c.249C>A (p.Asn83Lys)	LOC110121427, LRMDA (N55K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1962964	NM_001305581.2(LRMDA):c.191A>C (p.Gln64Pro)	LOC110121427, LRMDA (Q36P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1961144	NM_001305581.2(LRMDA):c.258+13C>T	LOC110121427, LRMDA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1940388	NM_001305581.2(LRMDA):c.258+16C>T	LOC110121427, LRMDA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1927240	NM_001305581.2(LRMDA):c.229C>G (p.Leu77Val)	LOC110121427, LRMDA (L49V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1914017	NM_001305581.2(LRMDA):c.258+19G>T	LOC110121427, LRMDA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1681427	NM_001305581.2(LRMDA):c.258+19G>A	LOC110121427, LRMDA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1681426	NM_001305581.2(LRMDA):c.252G>A (p.Lys84=)	LOC110121427, LRMDA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1284342	NM_001305581.2(LRMDA):c.159G>A (p.Arg53=)	LOC110121427, LRMDA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 730707	NM_001305581.2(LRMDA):c.222A>G (p.Leu74=)	LOC110121427, LRMDA	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 285613	NM_001305581.2(LRMDA):c.256C>T (p.Arg86Ter)	LOC110121427, LRMDA (R58* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 261987	NM_001305581.2(LRMDA):c.228A>G (p.Arg76=)	LOC110121427, LRMDA	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 261986	NM_001305581.2(LRMDA):c.193C>T (p.Leu65=)	LOC110121427, LRMDA	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 41917	NM_001305581.2(LRMDA):c.150dup (p.Ala51fs)	LOC110121427, LRMDA (A51fs +1 more)	Duplication (frameshift variant +1 more)	Oculocutaneous albinism type 7 +1 more	GPathogenic

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Links from Gene

Items: 27