"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LOC1268 - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2849122	NM_001963.6(EGF):c.2068G>A (p.Val690Ile)	EGF, LOC126807134 (V648I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1904325	NM_001963.6(EGF):c.2072_2073inv (p.Ala691Val)	EGF, LOC126807134 (A691V +1 more)	Inversion (missense variant)	not provided	GUncertain significance
Select item 347242	NM_001963.6(EGF):c.2073A>G (p.Ala691=)	EGF, LOC126807134	Single nucleotide variant (synonymous variant)	Renal hypomagnesemia 4 +1 more	GBenign
Select item 2118987	NM_001963.6(EGF):c.2084A>C (p.Asp695Ala)	LOC126807134, EGF (D695A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 347243	NM_001963.6(EGF):c.2088T>C (p.Tyr696=)	EGF, LOC126807134	Single nucleotide variant (synonymous variant)	Renal hypomagnesemia 4 +1 more	GConflicting classifications of pathogenicity
Select item 347245	NM_001963.6(EGF):c.2124G>A (p.Met708Ile)	EGF, LOC126807134 (M708I +1 more)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 4 +1 more	GBenign
Select item 2834908	NM_001963.6(EGF):c.2152A>T (p.Arg718Ter)	EGF, LOC126807134 (R676* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2155202	NM_001963.6(EGF):c.2221+4C>T	EGF, LOC126807134	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2831582	NM_001963.6(EGF):c.2222-15T>C	LOC126807134, EGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 901213	NM_001963.6(EGF):c.2223A>G (p.Gly741=)	EGF, LOC126807134	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2191243	NM_001963.6(EGF):c.2261A>G (p.His754Arg)	EGF, LOC126807134 (H712R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 901214	NM_001963.6(EGF):c.2297C>T (p.Ser766Leu)	EGF, LOC126807134 (S724L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 711911	NM_001963.6(EGF):c.2298G>A (p.Ser766=)	EGF, LOC126807134	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2153336	NM_001963.6(EGF):c.2314A>G (p.Met772Val)	EGF, LOC126807134 (M772V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1925654	NM_001963.6(EGF):c.2315T>G (p.Met772Arg)	EGF, LOC126807134 (M730R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3019425	NM_001963.6(EGF):c.2336C>T (p.Thr779Met)	LOC126807134, EGF (T737M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 901215	NM_001963.6(EGF):c.2337G>A (p.Thr779=)	EGF, LOC126807134	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 347246	NM_001963.6(EGF):c.2351A>T (p.Asp784Val)	EGF, LOC126807134 (D784V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 739998	NM_001963.6(EGF):c.2362C>T (p.Leu788=)	EGF, LOC126807134	Single nucleotide variant (synonymous variant)	Renal hypomagnesemia 4 +1 more	GConflicting classifications of pathogenicity
Select item 2192586	NM_001963.6(EGF):c.2371G>A (p.Gly791Ser)	EGF, LOC126807134 (G791S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 20