ClinVar for Gene (Select 1871) - ClinVar

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

Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3086741	NM_001949.5(E2F3):c.920T>G (p.Ile307Ser)	E2F3 (I176S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086740	NM_001949.5(E2F3):c.22G>T (p.Ala8Ser)	E2F3 (A8S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086739	NM_001949.5(E2F3):c.18G>C (p.Gln6His)	E2F3 (Q6H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062893	GRCh37/hg19 6p22.3(chr6:20414685-20499896)x1	E2F3	Copy number loss	not specified	GUncertain significance
Select item 3039257	NM_001949.5(E2F3):c.1201G>T (p.Ala401Ser)	E2F3 (A270S +1 more)	Single nucleotide variant (missense variant)	E2F3-related condition	GLikely benign
Select item 2552412	NM_001949.5(E2F3):c.1133A>T (p.Lys378Ile)	E2F3 (K378I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549660	NM_001949.5(E2F3):c.1354G>T (p.Asp452Tyr)	E2F3 (D321Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484742	NM_001949.5(E2F3):c.876G>T (p.Glu292Asp)	E2F3 (E292D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308160	NM_001949.5(E2F3):c.1390T>G (p.Cys464Gly)	E2F3 (C333G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263902	NM_001949.5(E2F3):c.912T>G (p.Ile304Met)	E2F3 (I304M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205567	NM_001949.5(E2F3):c.1210G>T (p.Ala404Ser)	E2F3 (A404S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1810398	GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3	ADTRP, ATXN1 +89 more	Copy number gain	See cases	GPathogenic
Select item 1809386	GRCh37/hg19 6p24.1-22.3(chr6:12005630-22849647)x1	ATXN1, CAP2 +32 more	Copy number loss	not provided	GPathogenic
Select item 814799	GRCh37/hg19 6p22.3(chr6:20488753-20882544)x3	E2F3, CDKAL1	Copy number gain	not provided	GUncertain significance
Select item 787663	NM_001949.5(E2F3):c.1165G>A (p.Asp389Asn)	E2F3 (D389N +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 708917	NM_001949.5(E2F3):c.347C>T (p.Pro116Leu)	E2F3, LOC129995947 (P116L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 688193	GRCh37/hg19 6p23-22.3(chr6:13910125-22000204)x1	ATXN1, CAP2 +21 more	Copy number loss	not provided	GPathogenic
Select item 687409	GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3	ADTRP, ATXN1 +95 more	Copy number gain	not provided	GPathogenic
Select item 563163	GRCh37/hg19 6p22.3(chr6:20460699-20864269)x3	CDKAL1, E2F3	Copy number gain	not provided	GUncertain significance
Select item 563140	GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3	ADTRP, ATXN1 +93 more	Copy number gain	not provided	GPathogenic
Select item 560067	Single allele	ADTRP, ATXN1 +95 more	Duplication	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 442457	GRCh37/hg19 6p23-22.3(chr6:13693852-24225515)x1	ATXN1, CAP2 +27 more	Copy number loss	See cases	GPathogenic
Select item 253526	GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3	STMND1, SYCP2L +95 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	LOC129995913, LOC129995914 +1340 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 27