LRMDA[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 58745	GRCh38/hg38 10q22.1-22.2(chr10:72720628-75612374)x1	LOC130004132, LOC130004133 +150 more	Copy number loss	See cases	GPathogenic
Select item 3034272	NM_001305581.2(LRMDA):c.124C>T (p.Leu42Phe)	LRMDA (L42F)	Single nucleotide variant (missense variant)	LRMDA-related disorder	GBenign
Select item 1924309	NM_001305581.2(LRMDA):c.132-253022A>G	LRMDA (Y4C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 261988	NM_001305581.2(LRMDA):c.132-253012del	LRMDA (S8fs)	Deletion (frameshift variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1681423	NM_001305581.2(LRMDA):c.132-253009C>T	LRMDA	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2413586	NM_001305581.2(LRMDA):c.132-253008G>A	LRMDA (G9S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1681424	NM_001305581.2(LRMDA):c.132-253001A>C	LRMDA (H11P)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1681425	NM_001305581.2(LRMDA):c.132-252969C>T	LRMDA	Single nucleotide variant (intron variant)	not provided	GLikely benign
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
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 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 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 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 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 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 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 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 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 730707	NM_001305581.2(LRMDA):c.222A>G (p.Leu74=)	LOC110121427, LRMDA	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 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 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 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 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 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 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 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 2428395	NM_001305581.2(LRMDA):c.258+4T>C	LOC110121427, LRMDA	Single nucleotide variant (intron variant)	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 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 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 152952	GRCh38/hg38 10q22.3(chr10:76036348-76702491)x1	LOC110120929, LOC110121364 +8 more	Copy number loss	See cases	GUncertain significance
Select item 1681428	NM_001305581.2(LRMDA):c.259-11A>G	LRMDA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2045673	NM_001305581.2(LRMDA):c.259-3C>G	LRMDA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2080346	NM_001305581.2(LRMDA):c.259A>G (p.Ile87Val)	LRMDA (I59V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2003043	NM_001305581.2(LRMDA):c.270G>C (p.Leu90Phe)	LRMDA (L90F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1302383	NM_001305581.2(LRMDA):c.323G>A (p.Ser108Asn)	LRMDA (S108N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2848665	NM_001305581.2(LRMDA):c.327G>T (p.Leu109=)	LRMDA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2007055	NM_001305581.2(LRMDA):c.334A>T (p.Asn112Tyr)	LRMDA (N112Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 261989	NM_001305581.2(LRMDA):c.336C>T (p.Asn112=)	LRMDA	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1681429	NM_001305581.2(LRMDA):c.342C>A (p.Ala114=)	LRMDA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2919742	NM_001305581.2(LRMDA):c.351C>T (p.Asn117=)	LRMDA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2058255	NM_001305581.2(LRMDA):c.351C>G (p.Asn117Lys)	LRMDA (N117K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 209972	NM_001305581.2(LRMDA):c.351C>A (p.Asn117Lys)	LRMDA (N117K +1 more)	Single nucleotide variant (missense variant +1 more)	Oculocutaneous albinism type 7	GLikely pathogenic
Select item 261990	NM_001305581.2(LRMDA):c.364T>C (p.Leu122=)	LRMDA	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 2015270	NM_001305581.2(LRMDA):c.367_368delinsAT (p.Glu123Ile)	LRMDA (E123I +1 more)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 1681430	NM_001305581.2(LRMDA):c.384C>T (p.Asp128=)	LRMDA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1911807	NM_001305581.2(LRMDA):c.386A>G (p.Tyr129Cys)	LRMDA (Y101C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2859805	NM_001305581.2(LRMDA):c.398+2_398+13del	LRMDA	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 2102118	NM_001305581.2(LRMDA):c.398+1G>C	LRMDA	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1922830	NM_001305581.2(LRMDA):c.398+20A>C	LRMDA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192588	NM_001305581.2(LRMDA):c.398+31A>C	LRMDA	Single nucleotide variant (intron variant)	Oculocutaneous albinism type 7 +1 more	GBenign
Select item 2806305	NM_001305581.2(LRMDA):c.399-20C>T	LRMDA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1681431	NM_001305581.2(LRMDA):c.399-18C>G	LRMDA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2791682	NM_001305581.2(LRMDA):c.399-12C>A	LRMDA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963575	NM_001305581.2(LRMDA):c.399-8T>A	LRMDA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1931208	NM_001305581.2(LRMDA):c.438G>A (p.Leu146=)	LRMDA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1933679	NM_001305581.2(LRMDA):c.444C>T (p.Ala148=)	LRMDA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1910640	NM_001305581.2(LRMDA):c.463G>A (p.Glu155Lys)	LRMDA (E127K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1681432	NM_001305581.2(LRMDA):c.467G>A (p.Arg156Gln)	LRMDA (R128Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 721937	NM_001305581.2(LRMDA):c.477G>A (p.Ala159=)	LRMDA	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 717935	NM_001305581.2(LRMDA):c.480G>T (p.Leu160Phe)	LRMDA (L132F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1927971	NM_001305581.2(LRMDA):c.496A>G (p.Met166Val)	LRMDA (M138V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2149872	NM_001305581.2(LRMDA):c.497T>C (p.Met166Thr)	LRMDA (M138T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1939150	NM_001305581.2(LRMDA):c.504G>A (p.Val168=)	LRMDA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2970112	NM_001305581.2(LRMDA):c.507G>T (p.Val169=)	LRMDA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1934389	NM_001305581.2(LRMDA):c.507G>A (p.Val169=)	LRMDA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1938355	NM_001305581.2(LRMDA):c.512C>T (p.Pro171Leu)	LRMDA (P171L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1973665	NM_001305581.2(LRMDA):c.516+8G>T	LRMDA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2032171	NM_001305581.2(LRMDA):c.516+12A>G	LRMDA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999923	NM_001305581.2(LRMDA):c.516+19G>A	LRMDA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192589	NM_001305581.2(LRMDA):c.516+53C>T	LRMDA	Single nucleotide variant (intron variant)	Oculocutaneous albinism type 7 +1 more	GBenign
Select item 2066309	NM_001305581.2(LRMDA):c.517-20A>C	LRMDA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2100488	NM_001305581.2(LRMDA):c.517-5C>A	LRMDA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1681433	NM_001305581.2(LRMDA):c.531C>T (p.Asp177=)	LRMDA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 261991	NM_001305581.2(LRMDA):c.542C>T (p.Ser181Phe)	LRMDA (S153F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1681434	NM_001305581.2(LRMDA):c.545C>T (p.Pro182Leu)	LRMDA (P154L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1905349	NM_001305581.2(LRMDA):c.546G>A (p.Pro182=)	LRMDA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1681435	NM_001305581.2(LRMDA):c.550C>T (p.Arg184Cys)	LRMDA (R156C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1681436	NM_001305581.2(LRMDA):c.551G>A (p.Arg184His)	LRMDA (R156H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1918108	NM_001305581.2(LRMDA):c.560C>T (p.Thr187Met)	LRMDA (T159M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1904895	NM_001305581.2(LRMDA):c.561G>A (p.Thr187=)	LRMDA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1923207	NM_001305581.2(LRMDA):c.570T>C (p.Pro190=)	LRMDA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1013286	NM_001305581.2(LRMDA):c.583del (p.Glu195fs)	LRMDA (E167fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2072105	NM_001305581.2(LRMDA):c.585A>G (p.Glu195=)	LRMDA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2418961	NM_001305581.2(LRMDA):c.592A>G (p.Ser198Gly)	LRMDA (S170G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2908816	NM_001305581.2(LRMDA):c.594T>C (p.Ser198=)	LRMDA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1900560	NM_001305581.2(LRMDA):c.601+11A>T	LRMDA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1681437	NM_001305581.2(LRMDA):c.601+18T>G	LRMDA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006569	NM_001305581.2(LRMDA):c.602-10T>G	LRMDA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 284035	NM_001305581.2(LRMDA):c.602-8A>T	LRMDA	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 261992	NM_001305581.2(LRMDA):c.611G>A (p.Gly204Glu)	LRMDA (G176E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 1904139	NM_001305581.2(LRMDA):c.612G>A (p.Gly204=)	LRMDA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2111501	NM_001305581.2(LRMDA):c.617G>A (p.Cys206Tyr)	LRMDA (C206Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2175083	NM_001305581.2(LRMDA):c.620dup (p.Tyr208fs)	LRMDA (Y208fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic

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