ClinVar for MedGen (Select 318680) - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1263746	NM_000125.4(ESR1):c.1782G>A (p.Thr594=)	ESR1	Single nucleotide variant (synonymous variant +2 more)	Familial cancer of breast +5 more	GBenign/Likely benign
Select item 1250979	NM_000125.4(ESR1):c.30T>C (p.Ser10=)	ESR1	Single nucleotide variant (synonymous variant)	Estrogen resistance syndrome +4 more	GBenign
Select item 1250845	NM_000040.3(APOC3):c.*40G>C	APOC3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 910504	NM_000129.4(F13A1):c.1861G>T (p.Ala621Ser)	F13A1 (A621S)	Single nucleotide variant (missense variant)	Factor XIII, A subunit, deficiency of +2 more	GUncertain significance
Select item 890713	NM_000212.3(ITGB3):c.1459C>T (p.Arg487Cys)	ITGB3 (R487C)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 883021	NM_019616.4(F7):c.1267G>A (p.Glu423Lys)	F7 (E361K +2 more)	Single nucleotide variant (missense variant +1 more)	F7-related condition +4 more	GUncertain significance
Select item 632209	NM_019616.4(F7):c.739+3_739+6del	F7	Microsatellite (splice donor variant)	Myocardial infarction, susceptibility to +3 more	GConflicting classifications of pathogenicity
Select item 627403	NM_019616.4(F7):c.845C>T (p.Ala282Val)	F7 (A282V +2 more)	Single nucleotide variant (missense variant +1 more)	Factor VII deficiency +3 more	GPathogenic/Likely pathogenic
Select item 627309	NM_019616.4(F7):c.364+1G>A	F7	Single nucleotide variant (splice donor variant)	Myocardial infarction, susceptibility to +3 more	GPathogenic/Likely pathogenic
Select item 627178	NM_019616.4(F7):c.413A>G (p.Gln138Arg)	F7 (Q138R +2 more)	Single nucleotide variant (missense variant +1 more)	Factor VII deficiency +3 more	GPathogenic/Likely pathogenic
Select item 626999	NM_019616.4(F7):c.1325del (p.Pro442fs)	F7 (P442fs +2 more)	Deletion (frameshift variant +1 more)	Factor VII deficiency +4 more	GPathogenic/Likely pathogenic
Select item 517720	NM_019616.4(F7):c.64+4C>T	F7	Single nucleotide variant (intron variant)	Factor VII deficiency +3 more	GLikely benign
Select item 439753	NM_001498.4(GCLC):c.-594C>T	GCLC	Single nucleotide variant	not provided	GBenign
Select item 420159	NM_019616.4(F7):c.1025G>A (p.Arg342Gln)	F7 (R342Q +2 more)	Single nucleotide variant (missense variant +1 more)	F7-related condition +4 more	GPathogenic/Likely pathogenic; other
Select item 256803	NM_000789.4(ACE):c.2328G>A (p.Thr776=)	ACE	Single nucleotide variant (synonymous variant)	Renal tubular dysgenesis +2 more	GBenign
Select item 18061	NM_000789.3(ACE):c.2306-117_2306-116insAF118569.1:g.14094_14382	ACE	Insertion	Myocardial infarction, susceptibility to +6 more	GConflicting classifications of pathogenicity; risk factor
Select item 16594	NM_000125.4(ESR1):c.453-397T>C	ESR1	Single nucleotide variant (intron variant)	Myocardial infarction, susceptibility to	Grisk factor
Select item 14472	NM_006498.3(LGALS2):c.6+3279C>T	LGALS2	Single nucleotide variant (intron variant)	Myocardial infarction, susceptibility to	Grisk factor
Select item 14380	NM_000595.4(LTA):c.-10+90A>G	LOC100287329, LTA	Single nucleotide variant (intron variant)	Myocardial infarction, susceptibility to +1 more	Grisk factor
Select item 14379	NM_000595.4(LTA):c.179C>A (p.Thr60Asn)	LTA (T60N)	Single nucleotide variant (missense variant)	LTA-related disorder	GBenign
Select item 13558	NM_000212.3(ITGB3):c.176T>C (p.Leu59Pro)	ITGB3 (L59P)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GBenign FDA Recognized database
Select item 12076	NM_019616.4(F7):c.995C>T (p.Ala332Val)	F7 (A354V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 8366	NC_000001.11:g.93909753G>A	GCLM, LOC129930970	Single nucleotide variant (genic upstream transcript variant)	Myocardial infarction, susceptibility to	Grisk factor
Select item 6995	NM_002543.4(OLR1):c.*188=	OLR1	Single nucleotide variant (no sequence alteration)	Myocardial infarction, susceptibility to	Grisk factor
Select item 6994	NM_002543.4(OLR1):c.501G>C (p.Lys167Asn)	OLR1 (K167N)	Single nucleotide variant (missense variant +1 more)	OLR1-related condition	GBenign
Select item 6796	NM_002791.3(PSMA6):c.-8C>G	PRORP-PSMA6, PSMA6	Single nucleotide variant (5 prime UTR variant +2 more)	PSMA6-related condition	GBenign
Select item 1022	Multiple alleles	MIAT	Single nucleotide variant (non-coding transcript variant)	Myocardial infarction, susceptibility to	Grisk factor

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Items: 27