"PreventionGenetics, part of Exact Sciences"[submitter] AND "EGILA"[ge - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 807060	NM_001097577.3(ANG):c.3G>A (p.Met1Ile)	ANG, EGILA +1 more (M1I)	Single nucleotide variant (missense variant +3 more)	Amyotrophic lateral sclerosis type 10 +3 more	GConflicting classifications of pathogenicity
Select item 804533	NM_001097577.3(ANG):c.61C>T (p.Pro21Ser)	ANG, EGILA +1 more (P21S)	Single nucleotide variant (missense variant +2 more)	ANG-related disorder +1 more	GUncertain significance
Select item 18074	NM_001097577.3(ANG):c.122A>T (p.Lys41Ile)	ANG, EGILA +1 more (K41I)	Single nucleotide variant (missense variant +1 more)	ANG-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 3030978	NM_001097577.3(ANG):c.174C>T (p.Gly58=)	ANG, EGILA +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	ANG-related disorder	GLikely benign
Select item 18079	NM_001097577.3(ANG):c.208A>G (p.Ile70Val)	ANG, EGILA +1 more (I70V)	Single nucleotide variant (missense variant +1 more)	ANG-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 312774	NM_001097577.3(ANG):c.250A>G (p.Lys84Glu)	ANG, EGILA +1 more (K84E)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 257559	NM_001097577.3(ANG):c.330T>G (p.Gly110=)	ANG, EGILA +1 more	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 3051906	NM_001097577.3(ANG):c.356G>A (p.Arg119Gln)	ANG, EGILA +1 more (R119Q)	Single nucleotide variant (missense variant +1 more)	ANG-related disorder	GUncertain significance
Select item 2636742	NM_001097577.3(ANG):c.356G>T (p.Arg119Leu)	ANG, EGILA +1 more (R119L)	Single nucleotide variant (missense variant +1 more)	ANG-related disorder +1 more	GUncertain significance
Select item 1344517	NM_001097577.3(ANG):c.368G>C (p.Gly123Ala)	ANG, EGILA +1 more (G123A)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 18081	NM_001097577.3(ANG):c.407C>T (p.Pro136Leu)	ANG, EGILA +1 more (P136L)	Single nucleotide variant (missense variant +1 more)	ANG-related disorder +2 more	GConflicting classifications of pathogenicity