"Illumina Laboratory Services, Illumina"[submitter] AND "EGILA"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 882864	NM_001097577.3(ANG):c.-18-4G>A	ANG, EGILA +1 more	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 9	GUncertain significance
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 9 +3 more	GConflicting classifications of pathogenicity
Select item 882865	NM_001097577.3(ANG):c.38T>C (p.Val13Ala)	ANG, EGILA +1 more (V13A)	Single nucleotide variant (missense variant +2 more)	Amyotrophic lateral sclerosis type 9	GUncertain significance
Select item 882867	NM_001097577.3(ANG):c.62C>T (p.Pro21Leu)	ANG, EGILA +1 more (P21L)	Single nucleotide variant (missense variant +2 more)	Amyotrophic lateral sclerosis type 9 +1 more	GUncertain significance
Select item 882866	NM_001097577.3(ANG):c.62C>A (p.Pro21Gln)	ANG, EGILA +1 more (P21Q)	Single nucleotide variant (missense variant +2 more)	Amyotrophic lateral sclerosis type 9 +1 more	GBenign/Likely benign
Select item 312773	NM_001097577.3(ANG):c.99C>T (p.Phe33=)	ANG, EGILA +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 18074	NM_001097577.3(ANG):c.122A>T (p.Lys41Ile)	ANG, EGILA +1 more (K41I)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
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 condition +3 more	GConflicting classifications of pathogenicity
Select item 883658	NM_001097577.3(ANG):c.224G>A (p.Arg75His)	ANG, EGILA +1 more (R75H)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 9 +1 more	GUncertain significance
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 312775	NM_001097577.3(ANG):c.363A>T (p.Thr121=)	ANG, EGILA +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 312776	NM_001097577.3(ANG):c.365C>T (p.Ala122Val)	ANG, EGILA +1 more (A122V)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 9	GLikely benign
Select item 883659	NM_001097577.3(ANG):c.368G>A (p.Gly123Glu)	ANG, EGILA +1 more (G123E)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 9	GUncertain significance
Select item 312777	NM_001097577.3(ANG):c.441G>A (p.Pro147=)	ANG, EGILA +1 more	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 9	GLikely benign
Select item 312778	NM_001097577.3(ANG):c.*10C>T	ANG, EGILA +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 9	GLikely benign
Select item 881315	NM_001097577.3(ANG):c.*81A>C	ANG, EGILA +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 9	GUncertain significance
Select item 881316	NM_001097577.3(ANG):c.*139A>G	ANG, EGILA +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 9	GLikely benign