"GeneDx"[submitter] AND "EGILA"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57743	GRCh38/hg38 14q11.2(chr14:19755249-22741281)x1	ABHD4, ANG +312 more	Copy number loss	See cases	GPathogenic
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 59933	GRCh38/hg38 14q11.2(chr14:20127290-21376436)x3	ANG, APEX1 +119 more	Copy number gain	See cases	GPathogenic
Select item 57746	GRCh38/hg38 14q11.2(chr14:20475357-21613255)x1	ANG, ARHGEF40 +108 more	Copy number loss	See cases	GPathogenic
Select item 807060	NM_001097577.3(ANG):c.3G>A (p.Met1Ile)	ANG, EGILA +1 more (M1I)	Single nucleotide variant (non-coding transcript variant +4 more)	not provided +2 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 (non-coding transcript variant +3 more)	not provided	GUncertain significance
Select item 312773	NM_001097577.3(ANG):c.99C>T (p.Phe33=)	ANG, EGILA +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases +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 (non-coding transcript variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1313117	NM_001097577.3(ANG):c.199A>G (p.Asn67Asp)	ANG, EGILA +1 more (N67D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 18079	NM_001097577.3(ANG):c.208A>G (p.Ile70Val)	ANG, EGILA +1 more (I70V)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 9 +2 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 +2 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)	not provided +3 more	GBenign/Likely benign
Select item 312775	NM_001097577.3(ANG):c.363A>T (p.Thr121=)	RNASE4, ANG +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1447658	NM_001097577.3(ANG):c.434G>A (p.Arg145His)	RNASE4, ANG +1 more (R145H)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1294469	NC_000014.9:g.20694316_20694317dup	ANG, EGILA +1 more	Duplication (intron variant)	not provided	GBenign
Select item 1251384	NC_000014.9:g.20694317dup	ANG, EGILA +1 more	Duplication (intron variant)	not provided	GBenign
Select item 1214917	NC_000014.9:g.20694317del	ANG, EGILA +1 more	Deletion (intron variant)	not provided	GLikely benign