ClinVar for MedGen (Select 1789263) - ClinVar

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

Links from MedGen

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235072	NM_000039.3(APOA1):c.254G>C (p.Arg85Pro)	APOA1, APOA1-AS (R85P)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 2	GUncertain significance
Select item 1687354	NM_000039.3(APOA1):c.364C>T (p.Gln122Ter)	APOA1, APOA1-AS (Q122* +1 more)	Single nucleotide variant (nonsense)	Hypoalphalipoproteinemia, primary, 2	GLikely pathogenic
Select item 1638941	NM_000039.3(APOA1):c.200+19G>A	APOA1, APOA1-AS	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 1609652	NM_000039.3(APOA1):c.555G>C (p.Thr185=)	APOA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 1590899	NM_000039.3(APOA1):c.726G>C (p.Leu242=)	APOA1	Single nucleotide variant (synonymous variant)	Familial visceral amyloidosis, Ostertag type +4 more	GLikely benign
Select item 1576283	NM_000039.3(APOA1):c.315C>T (p.Gly105=)	APOA1, APOA1-AS	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 1531260	NM_000039.3(APOA1):c.126C>T (p.Tyr42=)	APOA1, APOA1-AS	Single nucleotide variant (synonymous variant)	Familial visceral amyloidosis, Ostertag type +3 more	GLikely benign
Select item 1513939	NM_000039.3(APOA1):c.271G>T (p.Val91Leu)	APOA1, APOA1-AS (V91L)	Single nucleotide variant (missense variant)	Familial visceral amyloidosis, Ostertag type +3 more	GUncertain significance
Select item 1501391	NM_000039.3(APOA1):c.127G>A (p.Val43Met)	APOA1, APOA1-AS (V43M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 1461988	NM_000039.3(APOA1):c.379G>A (p.Asp127Asn)	APOA1, APOA1-AS (D18N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +4 more	GUncertain significance
Select item 1341582	NM_000039.3(APOA1):c.542A>G (p.Asp181Gly)	APOA1 (D181G +1 more)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 2	GLikely pathogenic
Select item 1338197	NM_000039.3(APOA1):c.80C>A (p.Pro27His)	APOA1, APOA1-AS (P27H)	Single nucleotide variant (missense variant +2 more)	not provided +5 more	GUncertain significance
Select item 1251605	NM_000039.3(APOA1):c.200+33T>C	APOA1, APOA1-AS	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1225953	NM_000039.3(APOA1):c.43+41T>C	APOA1, APOA1-AS	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1217233	NM_000039.3(APOA1):c.564C>G (p.Ala188=)	APOA1	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 757032	NM_000039.3(APOA1):c.483G>C (p.Leu161=)	APOA1, APOA1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	Familial visceral amyloidosis, Ostertag type +4 more	GLikely benign
Select item 565272	NM_000039.3(APOA1):c.532_533dup (p.His179fs)	APOA1 (H179fs +1 more)	Microsatellite (frameshift variant)	Hypoalphalipoproteinemia, primary, 2, intermediate +3 more	GPathogenic/Likely pathogenic
Select item 302511	NM_000039.3(APOA1):c.9T>C (p.Ala3=)	APOA1, APOA1-AS	Single nucleotide variant (synonymous variant)	Hypoalphalipoproteinemia, primary, 2 +5 more	GBenign/Likely benign
Select item 302508	NM_000039.3(APOA1):c.168G>A (p.Gln56=)	APOA1, APOA1-AS	Single nucleotide variant (synonymous variant)	Familial visceral amyloidosis, Ostertag type +5 more	GConflicting classifications of pathogenicity
Select item 302507	NM_000039.3(APOA1):c.181G>A (p.Ala61Thr)	APOA1, APOA1-AS (A61T)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 2 +6 more	GBenign
Select item 302501	NM_000039.3(APOA1):c.732C>G (p.Pro244=)	APOA1	Single nucleotide variant (synonymous variant)	Hypoalphalipoproteinemia, primary, 2 +6 more	GBenign/Likely benign
Select item 302500	NM_000039.3(APOA1):c.*19C>G	APOA1	Single nucleotide variant (3 prime UTR variant)	Familial visceral amyloidosis, Ostertag type +4 more	GBenign
Select item 35692	NM_000039.3(APOA1):c.162G>C (p.Val54=)	APOA1, APOA1-AS	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 17930	NM_000039.3(APOA1):c.43+1G>C	APOA1, APOA1-AS	Single nucleotide variant (splice donor variant)	Hypoalphalipoproteinemia, primary, 2	GPathogenic
Select item 17929	NM_000039.3(APOA1):c.539T>A (p.Val180Glu)	APOA1 (V180E +1 more)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 2	GPathogenic
Select item 17926	NM_000039.3(APOA1):c.166C>T (p.Gln56Ter)	APOA1, APOA1-AS (Q56*)	Single nucleotide variant (nonsense)	Hypoalphalipoproteinemia, primary, 2	GPathogenic
Select item 17924	NM_000039.3(APOA1):c.67C>T (p.Gln23Ter)	APOA1, APOA1-AS (Q23*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 17922	NM_000039.3(APOA1):c.322C>T (p.Gln108Ter)	APOA1, APOA1-AS (Q108*)	Single nucleotide variant (nonsense)	Hypoalphalipoproteinemia, primary, 2	GPathogenic
Select item 17921	NM_000039.3(APOA1):c.678del (p.Leu227fs)	APOA1 (L118fs +1 more)	Deletion (frameshift variant)	Hypoalphalipoproteinemia, primary, 2	GPathogenic
Select item 17920	NM_000039.3(APOA1):c.101G>T (p.Arg34Leu)	APOA1, APOA1-AS (R34L)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 2 +3 more	GUncertain significance
Select item 17917	NM_000039.3(APOA1):c.148G>C (p.Gly50Arg)	APOA1, APOA1-AS (G50R)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 2 +3 more	GPathogenic
Select item 17912	NM_000039.3(APOA1):c.664G>A (p.Glu222Lys)	APOA1 (E222K +1 more)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 2 +2 more	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 32