ClinVar for MedGen (Select 411605) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3021757	NM_031471.6(FERMT3):c.1918C>A (p.Arg640=)	FERMT3	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 3018134	NM_031471.6(FERMT3):c.1454A>G (p.Asn485Ser)	FERMT3 (N489S +3 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 3012293	NM_031471.6(FERMT3):c.1312-13C>T	FERMT3	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 3004380	NM_031471.6(FERMT3):c.786+16G>A	FERMT3	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 3004277	NM_031471.6(FERMT3):c.786+1G>T	FERMT3	Single nucleotide variant (splice donor variant)	Leukocyte adhesion deficiency 3	GLikely pathogenic
Select item 3001510	NM_031471.6(FERMT3):c.228C>T (p.Thr76=)	FERMT3	Single nucleotide variant (synonymous variant +1 more)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 3000938	NM_031471.6(FERMT3):c.87C>T (p.Ala29=)	FERMT3	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2999802	NM_031471.6(FERMT3):c.1914G>A (p.Ser638=)	FERMT3	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2991541	NM_031471.6(FERMT3):c.1311+11dup	FERMT3	Duplication (intron variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2983272	NM_031471.6(FERMT3):c.1311+13_1311+29del	FERMT3	Deletion (intron variant)	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2961760	NM_031471.6(FERMT3):c.1230C>T (p.Asn410=)	FERMT3	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2958138	NM_031471.6(FERMT3):c.515-16C>G	FERMT3	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2919044	NM_031471.6(FERMT3):c.861C>T (p.Thr287=)	FERMT3	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2915197	NM_031471.6(FERMT3):c.9G>A (p.Gly3=)	FERMT3	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2909662	NM_031471.6(FERMT3):c.1671-18T>A	FERMT3	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2903424	NM_031471.6(FERMT3):c.161-16C>T	FERMT3	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2902332	NM_031471.6(FERMT3):c.564C>T (p.Ser188=)	FERMT3	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2901873	NM_031471.6(FERMT3):c.1747G>A (p.Asp583Asn)	FERMT3 (D583N +3 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2901780	NM_031471.6(FERMT3):c.1593G>A (p.Ser531=)	FERMT3	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 3 +1 more	GLikely benign
Select item 2900561	NM_031471.6(FERMT3):c.18A>G (p.Thr6=)	FERMT3	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2899026	NM_031471.6(FERMT3):c.1671-19C>G	FERMT3	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2897979	NM_031471.6(FERMT3):c.357C>T (p.Pro119=)	FERMT3	Single nucleotide variant (synonymous variant +1 more)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2897360	NM_031471.6(FERMT3):c.36C>T (p.Ile12=)	FERMT3	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2895181	NM_031471.6(FERMT3):c.258G>A (p.Leu86=)	FERMT3	Single nucleotide variant (synonymous variant +1 more)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2893224	NM_031471.6(FERMT3):c.1545+17G>C	FERMT3	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2888844	NM_031471.6(FERMT3):c.1030-12G>A	FERMT3	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2887720	NM_031471.6(FERMT3):c.514+17G>A	FERMT3	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2886628	NM_031471.6(FERMT3):c.111T>C (p.Thr37=)	FERMT3	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2882270	NM_031471.6(FERMT3):c.895-5C>T	FERMT3	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2878106	NM_031471.6(FERMT3):c.100C>T (p.Leu34=)	FERMT3	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2857019	NM_031471.6(FERMT3):c.1593G>T (p.Ser531=)	FERMT3	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2849133	NM_031471.6(FERMT3):c.273C>T (p.Leu91=)	FERMT3	Single nucleotide variant (synonymous variant +1 more)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2834630	NM_031471.6(FERMT3):c.511G>A (p.Gly171Arg)	FERMT3 (G171R)	Single nucleotide variant (missense variant +1 more)	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2833246	NM_031471.6(FERMT3):c.1080-18C>A	FERMT3	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2829979	NM_031471.6(FERMT3):c.294G>A (p.Arg98=)	FERMT3	Single nucleotide variant (synonymous variant +1 more)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2829620	NM_031471.6(FERMT3):c.1839C>T (p.Ile613=)	FERMT3	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2817151	NM_031471.6(FERMT3):c.1312-11del	FERMT3	Deletion (intron variant)	Leukocyte adhesion deficiency 3	GBenign
Select item 2815453	NM_031471.6(FERMT3):c.1686G>A (p.Arg562=)	FERMT3	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2808643	NM_031471.6(FERMT3):c.1926G>C (p.Arg642=)	FERMT3	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2801638	NM_031471.6(FERMT3):c.515-7A>T	FERMT3	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 3	GBenign
Select item 2800615	NM_031471.6(FERMT3):c.1671-4_1671del	FERMT3	Deletion (splice acceptor variant)	Leukocyte adhesion deficiency 3	GLikely pathogenic
Select item 2799874	NM_031471.6(FERMT3):c.1080-12C>T	FERMT3	Single nucleotide variant (synonymous variant +1 more)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2799771	NM_031471.6(FERMT3):c.1812+8C>T	FERMT3	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2777561	NM_031471.6(FERMT3):c.1620C>T (p.Ile540=)	FERMT3	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2776763	NM_031471.6(FERMT3):c.987C>T (p.Asn329=)	FERMT3	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2765745	NM_031471.6(FERMT3):c.1469_1504del (p.Pro490_Gly501del)	FERMT3	Deletion (inframe_deletion)	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2764987	NM_031471.6(FERMT3):c.1311+10G>A	FERMT3	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2764922	NM_031471.6(FERMT3):c.684-6G>T	FERMT3	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2755107	NM_031471.6(FERMT3):c.787-10C>T	FERMT3	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2753871	NM_031471.6(FERMT3):c.1790del (p.Asn597fs)	FERMT3 (N421fs +3 more)	Deletion (frameshift variant)	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2724237	NM_031471.6(FERMT3):c.1911G>A (p.Leu637=)	FERMT3	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2721299	NM_031471.6(FERMT3):c.1443G>C (p.Gly481=)	FERMT3	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2716987	NM_031471.6(FERMT3):c.1954C>T (p.Leu652Phe)	FERMT3 (L472F +3 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2716011	NM_031471.6(FERMT3):c.540G>A (p.Gly180=)	FERMT3	Single nucleotide variant (synonymous variant +1 more)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2712967	NM_031471.6(FERMT3):c.1079+10G>T	FERMT3	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2711987	NM_031471.6(FERMT3):c.514+13G>T	FERMT3	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2709965	NM_031471.6(FERMT3):c.90G>A (p.Glu30=)	FERMT3	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2693228	NM_031471.6(FERMT3):c.1312-18C>T	FERMT3	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2585527	NM_000211.5(ITGB2):c.120del (p.Gly42fs)	ITGB2 (G42fs)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2585219	NM_000211.5(ITGB2):c.393T>A (p.Tyr131Ter)	ITGB2 (Y62* +1 more)	Single nucleotide variant (nonsense)	Leukocyte adhesion deficiency 3	GLikely pathogenic
Select item 2584467	NM_031471.6(FERMT3):c.1601_1602del (p.Glu534fs)	FERMT3 (E354fs +3 more)	Microsatellite (frameshift variant)	Leukocyte adhesion deficiency 3	GPathogenic
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2420402	NM_031471.6(FERMT3):c.894+20G>A	FERMT3	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2420356	NM_031471.6(FERMT3):c.1725C>A (p.Ile575=)	FERMT3	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2193097	NM_031471.6(FERMT3):c.1857C>T (p.Cys619=)	FERMT3	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2192109	NM_031471.6(FERMT3):c.1077T>G (p.Phe359Leu)	FERMT3 (F359L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2189321	NM_031471.6(FERMT3):c.1807C>T (p.Arg603Trp)	FERMT3 (R427W +3 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2184572	NM_031471.6(FERMT3):c.1392C>T (p.Ser464=)	FERMT3	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2182069	NM_031471.6(FERMT3):c.1977C>T (p.Gly659=)	FERMT3	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2178941	NM_031471.6(FERMT3):c.1718G>A (p.Arg573Gln)	FERMT3 (R397Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2177453	NM_031471.6(FERMT3):c.394+19T>G	FERMT3	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2172888	NM_031471.6(FERMT3):c.124A>G (p.Ile42Val)	FERMT3 (I42V)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2170650	NM_031471.6(FERMT3):c.964G>A (p.Asp322Asn)	FERMT3 (D142N +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2169061	NM_031471.6(FERMT3):c.1670+19C>A	FERMT3	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2168548	NM_031471.6(FERMT3):c.1908C>T (p.Phe636=)	FERMT3	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2165556	NM_031471.6(FERMT3):c.1887G>C (p.Glu629Asp)	FERMT3 (E629D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2162556	NM_031471.6(FERMT3):c.45A>G (p.Ser15=)	FERMT3	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2161814	NM_031471.6(FERMT3):c.514+20G>A	FERMT3	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2157060	NM_031471.6(FERMT3):c.1483G>A (p.Glu495Lys)	FERMT3 (E499K +3 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2150822	NM_031471.6(FERMT3):c.1740C>T (p.Ala580=)	FERMT3	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2150060	NM_031471.6(FERMT3):c.786+18G>A	FERMT3	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2149725	NM_031471.6(FERMT3):c.420C>T (p.Ser140=)	FERMT3	Single nucleotide variant (synonymous variant +1 more)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2148475	NM_031471.6(FERMT3):c.164G>A (p.Arg55His)	FERMT3 (R55H)	Single nucleotide variant (missense variant +1 more)	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2145162	NM_031471.6(FERMT3):c.1596G>A (p.Leu532=)	FERMT3	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 3 +1 more	GLikely benign
Select item 2143092	NM_031471.6(FERMT3):c.1080-16C>G	FERMT3	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2140964	NM_031471.6(FERMT3):c.1029+6G>T	FERMT3	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2139607	NM_031471.6(FERMT3):c.1545+14T>C	FERMT3	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2139484	NM_031471.6(FERMT3):c.1889A>G (p.Tyr630Cys)	FERMT3 (Y630C +3 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2128947	NM_031471.6(FERMT3):c.155A>G (p.Gln52Arg)	FERMT3 (Q52R)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2127829	NM_031471.6(FERMT3):c.351C>G (p.Ser117=)	FERMT3	Single nucleotide variant (synonymous variant +1 more)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2127209	NM_031471.6(FERMT3):c.1913C>A (p.Ser638Ter)	FERMT3 (S458* +3 more)	Single nucleotide variant (nonsense)	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2126112	NM_031471.6(FERMT3):c.834C>T (p.Asp278=)	FERMT3	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2121472	NM_031471.6(FERMT3):c.107T>C (p.Val36Ala)	FERMT3 (V36A)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2109138	NM_031471.6(FERMT3):c.1360G>A (p.Gly454Ser)	FERMT3 (G274S +3 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2107447	NM_031471.6(FERMT3):c.515-10T>G	FERMT3	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2107123	NM_031471.6(FERMT3):c.1448C>G (p.Pro483Arg)	FERMT3 (P303R +3 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2105532	NM_031471.6(FERMT3):c.46T>C (p.Trp16Arg)	FERMT3 (W16R)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2096249	NM_031471.6(FERMT3):c.1202A>C (p.Lys401Thr)	FERMT3 (K225T +3 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2089923	NM_031471.6(FERMT3):c.1894G>A (p.Gly632Arg)	FERMT3 (G452R +3 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2088569	NM_031471.6(FERMT3):c.1030-16T>G	FERMT3	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 3	GLikely benign

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