"EGF-related disorder"[Disease/phenotype] AND "PreventionGenetics, par - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 347226	NM_001963.6(EGF):c.264C>T (p.Ile88=)	EGF	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
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 2631867	NM_001963.6(EGF):c.1003C>T (p.Gln335Ter)	EGF (Q335*)	Single nucleotide variant (nonsense +1 more)	EGF-related disorder	GUncertain significance
Select item 3033236	NM_001963.6(EGF):c.1258T>C (p.Leu420=)	EGF	Single nucleotide variant (synonymous variant)	EGF-related disorder	GLikely benign
Select item 901701	NM_001963.6(EGF):c.1404C>T (p.Asp468=)	EGF	Single nucleotide variant (synonymous variant)	EGF-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1924365	NM_001963.6(EGF):c.1446A>G (p.Gln482=)	EGF	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 778314	NM_001963.6(EGF):c.1602G>A (p.Lys534=)	EGF	Single nucleotide variant (synonymous variant)	Renal hypomagnesemia 4 +2 more	GConflicting classifications of pathogenicity
Select item 347238	NM_001963.6(EGF):c.1723G>A (p.Gly575Arg)	EGF (G575R +1 more)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 4 +2 more	GLikely benign
Select item 900057	NM_001963.6(EGF):c.1821A>G (p.Pro607=)	EGF	Single nucleotide variant (synonymous variant)	EGF-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 900058	NM_001963.6(EGF):c.1851A>G (p.Thr617=)	EGF	Single nucleotide variant (synonymous variant)	EGF-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 901213	NM_001963.6(EGF):c.2223A>G (p.Gly741=)	EGF, LOC126807134	Single nucleotide variant (synonymous variant)	EGF-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 901215	NM_001963.6(EGF):c.2337G>A (p.Thr779=)	EGF, LOC126807134	Single nucleotide variant (synonymous variant)	EGF-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2720950	NM_001963.6(EGF):c.2606C>T (p.Ser869Phe)	EGF (S827F +1 more)	Single nucleotide variant (missense variant +1 more)	EGF-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2070268	NM_001963.6(EGF):c.3048C>A (p.Asp1016Glu)	EGF (D893E +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
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 753723	NM_001963.6(EGF):c.3189A>G (p.Leu1063=)	EGF	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 347258	NM_001963.6(EGF):c.3371-4A>G	EGF	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 347259	NM_001963.6(EGF):c.3406dup (p.Gln1136fs)	EGF (Q1094fs +3 more)	Duplication (frameshift variant)	not provided +2 more	GBenign
Select item 347260	NM_001963.6(EGF):c.3521C>A (p.Thr1174Asn)	EGF (T1174N +2 more)	Single nucleotide variant (missense variant +1 more)	Renal hypomagnesemia 4 +2 more	GBenign/Likely benign