ClinVar for Gene (Select 100874117) - ClinVar

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Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3274744	NM_152403.4(EGFLAM):c.1859C>T (p.Ala620Val)	EGFLAM, EGFLAM-AS1 +1 more (A620V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087653	NM_152403.4(EGFLAM):c.1990A>C (p.Ile664Leu)	EGFLAM, EGFLAM-AS1 +1 more (I664L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3087652	NM_152403.4(EGFLAM):c.1981T>A (p.Phe661Ile)	EGFLAM, EGFLAM-AS1 +1 more (F661I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3087651	NM_152403.4(EGFLAM):c.1870T>C (p.Trp624Arg)	EGFLAM, EGFLAM-AS1 +1 more (W624R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087649	NM_152403.4(EGFLAM):c.1756G>A (p.Asp586Asn)	EGFLAM-AS1, EGFLAM (D586N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 2360494	NM_152403.4(EGFLAM):c.1877T>C (p.Leu626Pro)	EGFLAM, EGFLAM-AS1 +1 more (L392P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332763	NM_152403.4(EGFLAM):c.2024T>C (p.Phe675Ser)	EGFLAM, EGFLAM-AS1 +1 more (F441S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2303975	NM_152403.4(EGFLAM):c.1998G>C (p.Leu666Phe)	EGFLAM, EGFLAM-AS1 +1 more (L432F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2254544	NM_152403.4(EGFLAM):c.2016G>T (p.Glu672Asp)	EGFLAM, EGFLAM-AS1 +1 more (E672D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 151668	GRCh38/hg38 5p13.1(chr5:38400157-38593979)x3	EGFLAM, EGFLAM-AS1 +8 more	Copy number gain	See cases	GUncertain significance
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LINC02057, LINC02101 +518 more	Copy number gain	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 145475	GRCh38/hg38 5p13.2-13.1(chr5:37907791-38426506)x3	EGFLAM, EGFLAM-AS1 +7 more	Copy number gain	See cases	GLikely benign
Select item 60260	GRCh38/hg38 5p13.2-13.1(chr5:38397291-38433930)x1	EGFLAM, EGFLAM-AS1 +2 more	Copy number loss	See cases	GUncertain significance
Select item 58094	GRCh38/hg38 5p13.2-13.1(chr5:37016043-39383281)x3	C9, CPLANE1 +66 more	Copy number gain	See cases	GPathogenic
Select item 58093	GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3	ANXA2R, ANXA2R-AS1 +245 more	Copy number gain	See cases	GPathogenic
Select item 58092	GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3	LOC126807367, LOC126807368 +254 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 20