83706[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152302	GRCh38/hg38 11q12.3-13.1(chr11:62893226-64335043)x1	ATL3, BAD +107 more	Copy number loss	See cases	GLikely pathogenic
Select item 1912006	NM_031471.6(FERMT3):c.2T>G (p.Met1Arg)	FERMT3, LOC130005912 (M1R)	Single nucleotide variant (missense variant +1 more)	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 940984	NM_031471.6(FERMT3):c.5C>T (p.Ala2Val)	FERMT3, LOC130005912 (A2V)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 1111579	NM_031471.6(FERMT3):c.6G>A (p.Ala2=)	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 2900561	NM_031471.6(FERMT3):c.18A>G (p.Thr6=)	FERMT3	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 1606229	NM_031471.6(FERMT3):c.24C>T (p.Ser8=)	FERMT3	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 844514	NM_031471.6(FERMT3):c.25G>A (p.Gly9Arg)	FERMT3 (G9R)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 3039540	NM_031471.6(FERMT3):c.27G>A (p.Gly9=)	FERMT3	Single nucleotide variant (synonymous variant)	FERMT3-related disorder	GLikely benign
Select item 1501334	NM_031471.6(FERMT3):c.27G>T (p.Gly9=)	FERMT3	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 1477670	NM_031471.6(FERMT3):c.28G>A (p.Asp10Asn)	FERMT3 (D10N)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 950195	NM_031471.6(FERMT3):c.34A>G (p.Ile12Val)	FERMT3 (I12V)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 3	GUncertain significance
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 1483571	NM_031471.6(FERMT3):c.37G>A (p.Asp13Asn)	FERMT3 (D13N)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 3 +1 more	GUncertain significance
Select item 643214	NM_031471.6(FERMT3):c.41C>G (p.Ser14Trp)	FERMT3 (S14W)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 1121807	NM_031471.6(FERMT3):c.42G>A (p.Ser14=)	FERMT3	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 3	GLikely benign
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 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 2709	NM_031471.6(FERMT3):c.48G>A (p.Trp16Ter)	FERMT3 (W16*)	Single nucleotide variant (nonsense)	Leukocyte adhesion deficiency 3	GPathogenic
Select item 1376469	NM_031471.6(FERMT3):c.52C>G (p.Leu18Val)	FERMT3 (L18V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1051610	NM_031471.6(FERMT3):c.56G>T (p.Arg19Leu)	FERMT3 (R19L)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 580905	NM_031471.6(FERMT3):c.56G>A (p.Arg19Gln)	FERMT3 (R19Q)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 3 +1 more	GUncertain significance
Select item 1400293	NM_031471.6(FERMT3):c.74A>G (p.Glu25Gly)	FERMT3 (E25G)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 1084480	NM_031471.6(FERMT3):c.75G>A (p.Glu25=)	FERMT3	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 417964	NM_031471.6(FERMT3):c.86C>T (p.Ala29Val)	FERMT3 (A29V)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 3	GUncertain significance
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 2709965	NM_031471.6(FERMT3):c.90G>A (p.Glu30=)	FERMT3	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 1088754	NM_031471.6(FERMT3):c.93G>A (p.Ser31=)	FERMT3	Single nucleotide variant (synonymous 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 944796	NM_031471.6(FERMT3):c.104_105delinsTA (p.Arg35Leu)	FERMT3 (R35L)	Indel (missense variant)	Leukocyte adhesion deficiency 3	GUncertain significance
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 2886628	NM_031471.6(FERMT3):c.111T>C (p.Thr37=)	FERMT3	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 1522399	NM_031471.6(FERMT3):c.113G>C (p.Gly38Ala)	FERMT3 (G38A)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 1121153	NM_031471.6(FERMT3):c.120G>A (p.Ser40=)	FERMT3	Single nucleotide variant (synonymous 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 1087482	NM_031471.6(FERMT3):c.126C>T (p.Ile42=)	FERMT3	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 1615199	NM_031471.6(FERMT3):c.129C>T (p.Gly43=)	FERMT3	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 195388	NM_031471.6(FERMT3):c.130G>A (p.Gly44Arg)	FERMT3 (G44R)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1561353	NM_031471.6(FERMT3):c.138C>G (p.Leu46=)	FERMT3	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 748795	NM_031471.6(FERMT3):c.138C>T (p.Leu46=)	FERMT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 843953	NM_031471.6(FERMT3):c.140T>A (p.Leu47Gln)	FERMT3 (L47Q)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 1090763	NM_031471.6(FERMT3):c.144G>T (p.Lys48Asn)	FERMT3 (K48N)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 1085625	NM_031471.6(FERMT3):c.144G>A (p.Lys48=)	FERMT3	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 3	GLikely benign
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 195387	NM_031471.6(FERMT3):c.159C>G (p.Ile53Met)	FERMT3 (I53M)	Single nucleotide variant (missense variant)	not specified +2 more	GLikely benign
Select item 737497	NM_031471.6(FERMT3):c.160+10C>T	FERMT3	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 1658727	NM_031471.6(FERMT3):c.160+11G>A	FERMT3	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 1633030	NM_031471.6(FERMT3):c.160+17C>G	FERMT3	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 1295069	NM_031471.6(FERMT3):c.161-136C>T	FERMT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2052204	NM_031471.6(FERMT3):c.161-20T>C	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 402861	NM_031471.6(FERMT3):c.161-16C>G	FERMT3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1592650	NM_031471.6(FERMT3):c.161-12C>T	FERMT3	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 1168666	NM_031471.6(FERMT3):c.161-11G>A	FERMT3	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 3	GBenign
Select item 1091739	NM_031471.6(FERMT3):c.161-6C>T	FERMT3	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 1119746	NM_031471.6(FERMT3):c.161-5C>T	FERMT3	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 31528	NM_031471.6(FERMT3):c.161-2A>C	FERMT3	Single nucleotide variant (splice acceptor variant)	Leukocyte adhesion deficiency 3	GPathogenic
Select item 1056191	NM_031471.6(FERMT3):c.163C>A (p.Arg55Ser)	FERMT3 (R55S)	Single nucleotide variant (missense variant +1 more)	Leukocyte adhesion deficiency 3	GUncertain significance
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 771444	NM_031471.6(FERMT3):c.206A>C (p.Lys69Thr)	FERMT3 (K69T)	Single nucleotide variant (missense variant +1 more)	Leukocyte adhesion deficiency 3	GBenign
Select item 1969245	NM_031471.6(FERMT3):c.213G>C (p.Gln71His)	FERMT3 (Q71H)	Single nucleotide variant (missense variant +1 more)	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 1660984	NM_031471.6(FERMT3):c.219G>A (p.Leu73=)	FERMT3	Single nucleotide variant (synonymous variant +1 more)	Leukocyte adhesion deficiency 3	GLikely benign
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 733204	NM_031471.6(FERMT3):c.249C>T (p.Tyr83=)	FERMT3	Single nucleotide variant (synonymous variant +1 more)	Leukocyte adhesion deficiency 3	GBenign
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 1011998	NM_031471.6(FERMT3):c.262G>A (p.Asp88Asn)	FERMT3 (D88N)	Single nucleotide variant (missense variant +1 more)	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 1150780	NM_031471.6(FERMT3):c.264C>T (p.Asp88=)	FERMT3	Single nucleotide variant (synonymous variant +1 more)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2340000	NM_031471.6(FERMT3):c.265G>A (p.Ala89Thr)	FERMT3 (A89T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 537721	NM_031471.6(FERMT3):c.268C>T (p.Arg90Cys)	FERMT3 (R90C)	Single nucleotide variant (missense variant +1 more)	Leukocyte adhesion deficiency 3 +1 more	GUncertain significance
Select item 654615	NM_031471.6(FERMT3):c.269G>A (p.Arg90His)	FERMT3 (R90H)	Single nucleotide variant (missense variant +1 more)	Leukocyte adhesion deficiency 3	GUncertain significance
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 1391285	NM_031471.6(FERMT3):c.275T>G (p.Phe92Cys)	FERMT3 (F92C)	Single nucleotide variant (missense variant +1 more)	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2535157	NM_031471.6(FERMT3):c.287A>G (p.Gln96Arg)	FERMT3 (Q96R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 583150	NM_031471.6(FERMT3):c.298G>A (p.Val100Ile)	FERMT3 (V100I)	Single nucleotide variant (missense variant +1 more)	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 785723	NM_031471.6(FERMT3):c.303C>T (p.Ile101=)	FERMT3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1348706	NM_031471.6(FERMT3):c.307C>T (p.Arg103Trp)	FERMT3 (R103W)	Single nucleotide variant (missense variant +1 more)	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 935214	NM_031471.6(FERMT3):c.308G>A (p.Arg103Gln)	FERMT3 (R103Q)	Single nucleotide variant (missense variant +1 more)	Leukocyte adhesion deficiency 3 +1 more	GUncertain significance
Select item 1936981	NM_031471.6(FERMT3):c.313C>T (p.Pro105Ser)	FERMT3 (P105S)	Single nucleotide variant (missense variant +1 more)	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 712791	NM_031471.6(FERMT3):c.315C>G (p.Pro105=)	FERMT3	Single nucleotide variant (synonymous variant +1 more)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 537726	NM_031471.6(FERMT3):c.320G>A (p.Arg107His)	FERMT3 (R107H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2060415	NM_031471.6(FERMT3):c.323G>A (p.Arg108His)	FERMT3 (R108H)	Single nucleotide variant (missense variant +1 more)	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 1147217	NM_031471.6(FERMT3):c.324C>T (p.Arg108=)	FERMT3	Single nucleotide variant (synonymous variant +1 more)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 942982	NM_031471.6(FERMT3):c.325G>A (p.Ala109Thr)	FERMT3 (A109T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 625944	NM_031471.6(FERMT3):c.331C>T (p.Arg111Cys)	FERMT3 (R111C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 578258	NM_031471.6(FERMT3):c.332G>A (p.Arg111His)	FERMT3 (R111H)	Single nucleotide variant (missense variant +1 more)	Leukocyte adhesion deficiency 3 +1 more	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 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 756649	NM_031471.6(FERMT3):c.369T>C (p.Ala123=)	FERMT3	Single nucleotide variant (synonymous variant +1 more)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 2332146	NM_031471.6(FERMT3):c.385C>T (p.Arg129Cys)	FERMT3 (R129C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 575756	NM_031471.6(FERMT3):c.386G>A (p.Arg129His)	FERMT3 (R129H)	Single nucleotide variant (missense variant +1 more)	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 1447014	NM_031471.6(FERMT3):c.389T>G (p.Leu130Arg)	FERMT3 (L130R)	Single nucleotide variant (missense variant +1 more)	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2302933	NM_031471.6(FERMT3):c.392T>G (p.Leu131Arg)	FERMT3 (L131R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2085208	NM_031471.6(FERMT3):c.394+11C>T	FERMT3	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 1606023	NM_031471.6(FERMT3):c.394+12G>A	FERMT3	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 3	GLikely benign
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 1123434	NM_031471.6(FERMT3):c.395-10C>T	FERMT3	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 3	GLikely benign
Select item 3365748	NM_031471.6(FERMT3):c.401G>A (p.Arg134Gln)	FERMT3 (R134Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 197359	NM_031471.6(FERMT3):c.405C>T (p.His135=)	FERMT3	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 1518489	NM_031471.6(FERMT3):c.409G>A (p.Glu137Lys)	FERMT3 (E137K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance

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