"PreventionGenetics, part of Exact Sciences"[submitter] AND "FERMT3"[g - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 195387	NM_031471.6(FERMT3):c.159C>G (p.Ile53Met)	FERMT3 (I53M)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 3 +2 more	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 +1 more	GBenign/Likely benign
Select item 785723	NM_031471.6(FERMT3):c.303C>T (p.Ile101=)	FERMT3	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 707861	NM_031471.6(FERMT3):c.527C>T (p.Ala176Val)	FERMT3 (A176V)	Single nucleotide variant (missense variant +1 more)	FERMT3-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 287373	NM_031471.6(FERMT3):c.568C>G (p.Gln190Glu)	FERMT3 (Q190E +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 3 +2 more	GUncertain significance
Select item 837686	NM_031471.6(FERMT3):c.608C>T (p.Pro203Leu)	FERMT3 (P203L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 707862	NM_031471.6(FERMT3):c.684-5C>G	FERMT3	Single nucleotide variant (intron variant)	FERMT3-related disorder +1 more	GBenign
Select item 625947	NM_031471.6(FERMT3):c.736G>A (p.Ala246Thr)	FERMT3 (A246T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 537723	NM_031471.6(FERMT3):c.1158C>G (p.Ser386Arg)	FERMT3 (S386R +3 more)	Single nucleotide variant (missense variant)	FERMT3-related disorder +1 more	GLikely benign
Select item 193746	NM_031471.6(FERMT3):c.1188G>A (p.Gln396=)	FERMT3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 719757	NM_031471.6(FERMT3):c.1523A>C (p.Gln508Pro)	FERMT3 (Q508P +3 more)	Single nucleotide variant (missense variant)	FERMT3-related disorder +2 more	GConflicting classifications of pathogenicity
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 1104404	NM_031471.6(FERMT3):c.1635C>G (p.Ser545=)	FERMT3	Single nucleotide variant (synonymous variant)	FERMT3-related disorder +1 more	GLikely benign
Select item 3052603	NM_031471.6(FERMT3):c.1971C>T (p.Thr657=)	FERMT3	Single nucleotide variant (synonymous variant)	FERMT3-related disorder	GLikely benign