C2673648[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 709774	NM_001963.6(EGF):c.192C>A (p.Thr64=)	EGF	Single nucleotide variant (synonymous variant)	Renal hypomagnesemia 4 +1 more	GLikely benign
Select item 1368025	NM_001963.6(EGF):c.464G>A (p.Ser155Asn)	EGF (S155N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1403287	NM_001963.6(EGF):c.638G>A (p.Arg213Gln)	EGF (R213Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 899985	NM_001963.6(EGF):c.662G>C (p.Arg221Thr)	EGF (R221T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 718514	NM_001963.6(EGF):c.720T>C (p.Ile240=)	EGF	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1630683	NM_001963.6(EGF):c.737+11C>T	EGF	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1350941	NM_001963.6(EGF):c.887A>C (p.Lys296Thr)	EGF (K296T)	Single nucleotide variant (missense variant)	EGF-related disorder +2 more	GUncertain significance
Select item 753088	NM_001963.6(EGF):c.891A>C (p.Val297=)	EGF	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1652882	NM_001963.6(EGF):c.940+11_940+12inv	EGF	Inversion (intron variant)	Renal hypomagnesemia 4 +1 more	GLikely benign
Select item 708788	NM_001963.6(EGF):c.941-9C>A	EGF	Single nucleotide variant (intron variant)	Renal hypomagnesemia 4 +1 more	GBenign/Likely benign
Select item 752482	NM_001963.6(EGF):c.978C>T (p.Ser326=)	EGF	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1384032	NM_001963.6(EGF):c.1052G>A (p.Arg351Gln)	EGF (R351Q)	Single nucleotide variant (intron variant +1 more)	Renal hypomagnesemia 4 +1 more	GUncertain significance
Select item 347231	NM_001963.6(EGF):c.1066+10G>C	EGF	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 632424	NM_001963.6(EGF):c.1180C>T (p.Arg394Ter)	EGF (R394* +1 more)	Single nucleotide variant (nonsense)	not specified +1 more	GUncertain significance
Select item 901699	NM_001963.6(EGF):c.1190-10T>C	EGF	Single nucleotide variant (intron variant)	Renal hypomagnesemia 4 +1 more	GBenign/Likely benign
Select item 592059	NM_001963.6(EGF):c.1336G>A (p.Gly446Arg)	EGF (G446R +1 more)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 4	GUncertain significance
Select item 1427951	NM_001963.6(EGF):c.1354G>A (p.Val452Ile)	EGF (V452I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 769292	NM_001963.6(EGF):c.1380A>G (p.Glu460=)	EGF	Single nucleotide variant (synonymous variant)	Renal hypomagnesemia 4 +1 more	GBenign/Likely benign
Select item 901702	NM_001963.6(EGF):c.1416T>A (p.Asp472Glu)	EGF (D430E +1 more)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 4 +2 more	GUncertain significance
Select item 1426041	NM_001963.6(EGF):c.1480C>T (p.Arg494Ter)	EGF (R494* +1 more)	Single nucleotide variant (nonsense)	Renal hypomagnesemia 4 +1 more	GUncertain significance
Select item 903650	NM_001963.6(EGF):c.1684G>C (p.Val562Leu)	EGF (V562L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1357481	NM_001963.6(EGF):c.1864C>T (p.Arg622Ter)	EGF (R580* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GUncertain significance
Select item 1507059	NM_001963.6(EGF):c.1919A>G (p.Asp640Gly)	EGF (D598G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1410240	NM_001963.6(EGF):c.2378A>T (p.Glu793Val)	EGF (E751V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1535262	NM_001963.6(EGF):c.2491+20C>A	EGF	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 347253	NM_001963.6(EGF):c.2858-11G>T	EGF, LOC129992959	Single nucleotide variant (intron variant)	Renal hypomagnesemia 4	GUncertain significance
Select item 740956	NM_001963.6(EGF):c.3099C>T (p.Val1033=)	EGF	Single nucleotide variant (synonymous variant)	Renal hypomagnesemia 4 +2 more	GLikely benign
Select item 347255	NM_001963.6(EGF):c.3110C>T (p.Ala1037Val)	EGF (A1037V +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 753723	NM_001963.6(EGF):c.3189A>G (p.Leu1063=)	EGF	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign

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Items: 29