ClinVar for Gene (Select 126807134) - ClinVar

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Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3087616	NM_001963.6(EGF):c.2327A>G (p.Asp776Gly)	EGF, LOC126807134 (D734G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3019425	NM_001963.6(EGF):c.2336C>T (p.Thr779Met)	EGF, LOC126807134 (T737M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 2831582	NM_001963.6(EGF):c.2222-15T>C	EGF, LOC126807134	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2388224	NM_001963.6(EGF):c.2239T>C (p.Tyr747His)	EGF, LOC126807134 (Y747H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2233343	NM_001963.6(EGF):c.2218C>G (p.Pro740Ala)	EGF, LOC126807134 (P698A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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
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 2155202	NM_001963.6(EGF):c.2221+4C>T	EGF, LOC126807134	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 2118987	NM_001963.6(EGF):c.2084A>C (p.Asp695Ala)	EGF, LOC126807134 (D695A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1925654	NM_001963.6(EGF):c.2315T>G (p.Met772Arg)	LOC126807134, EGF (M730R +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 1317631	NM_001963.6(EGF):c.2221+279G>A	EGF, LOC126807134	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317433	NM_001963.6(EGF):c.2221+125G>T	EGF, LOC126807134	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1258597	NM_001963.6(EGF):c.2371+35G>A	EGF, LOC126807134	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232471	NM_001963.6(EGF):c.2222-125A>G	EGF, LOC126807134	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179791	NM_001963.6(EGF):c.2222-329T>C	EGF, LOC126807134	Single nucleotide variant (intron variant)	not provided	GBenign
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 901214	NM_001963.6(EGF):c.2297C>T (p.Ser766Leu)	EGF, LOC126807134 (S724L +1 more)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 4 +1 more	GBenign/Likely benign
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 900059	NM_001963.6(EGF):c.2082G>C (p.Glu694Asp)	EGF, LOC126807134 (E652D +1 more)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 4	GUncertain significance
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 711911	NM_001963.6(EGF):c.2298G>A (p.Ser766=)	EGF, LOC126807134	Single nucleotide variant (synonymous variant)	Renal hypomagnesemia 4 +1 more	GBenign
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 347245	NM_001963.6(EGF):c.2124G>A (p.Met708Ile)	EGF, LOC126807134 (M708I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 347244	NM_001963.6(EGF):c.2115A>G (p.Pro705=)	EGF, LOC126807134	Single nucleotide variant (synonymous variant)	Renal hypomagnesemia 4	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 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 58034	GRCh38/hg38 4q24-25(chr4:105778347-110206873)x3	AIMP1, CASP6 +106 more	Copy number gain	See cases	GPathogenic
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	ABHD18, ADAD1 +661 more	Copy number gain	See cases	GPathogenic
Select item 57893	GRCh38/hg38 4q25(chr4:109800241-109990141)x3	CFI, EGF +12 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 33