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Links from MedGen

Items: 1 to 100 of 117

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MPRIP, NT5M
+49 more
Copy number gain
Potocki-Lupski syndrome
GPathogenic
ALKBH5, ATPAF2
+16 more
Copy number gain
Potocki-Lupski syndrome
GPathogenic
ATPAF2, CCDC144A
+17 more
Complex
Potocki-Lupski syndrome
GPathogenic
FLCN
(G84V)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
+6 more
GUncertain significance
FLCN
(V295A)
Single nucleotide variant
(missense variant +1 more)
Birt-Hogg-Dube syndrome
+4 more
GLikely benign
FLCN
Single nucleotide variant
(intron variant)
Birt-Hogg-Dube syndrome
+4 more
GLikely benign
FLCN
Single nucleotide variant
(intron variant)
Birt-Hogg-Dube syndrome
+4 more
GLikely benign
FLCN
Single nucleotide variant
(intron variant)
Birt-Hogg-Dube syndrome
+4 more
GBenign/Likely benign
FLCN
(S68R)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
+5 more
GUncertain significance
FLCN
(C215Y +1 more)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
+5 more
GUncertain significance
FLCN
(R17C)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
+5 more
GUncertain significance
AKAP10, ALDH3A1
+48 more
Copy number gain
Potocki-Lupski syndrome
GPathogenic
FLCN
Single nucleotide variant
(synonymous variant)
Birt-Hogg-Dube syndrome
+6 more
GLikely benign
FLCN
Single nucleotide variant
(intron variant)
Birt-Hogg-Dube syndrome
+4 more
GLikely benign
FLCN
Single nucleotide variant
(intron variant)
Birt-Hogg-Dube syndrome
+4 more
GLikely benign
FLCN
Single nucleotide variant
(synonymous variant)
Birt-Hogg-Dube syndrome
+6 more
GLikely benign
AKAP10, ALDH3A1
+48 more
Copy number gain
Potocki-Lupski syndrome
GPathogenic
FLCN
(K534R +1 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
FLCN
(R588L +1 more)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
+5 more
GConflicting classifications of pathogenicity
FLCN
(S496F +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GUncertain significance
FLCN
(K365R +1 more)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
+4 more
GUncertain significance
FLCN
Single nucleotide variant
(synonymous variant)
Familial spontaneous pneumothorax
+4 more
GUncertain significance
FLCN
Single nucleotide variant
(intron variant)
Colorectal cancer
+4 more
GConflicting classifications of pathogenicity
FLCN
(P74L)
Single nucleotide variant
(missense variant)
Colorectal cancer
+5 more
GUncertain significance
FLCN
(P451S +1 more)
Single nucleotide variant
(missense variant)
Colorectal cancer
+5 more
GUncertain significance
FLCN
(F188I +1 more)
Single nucleotide variant
(missense variant)
Colorectal cancer
+6 more
GConflicting classifications of pathogenicity
FLCN
(A60V)
Single nucleotide variant
(missense variant)
Colorectal cancer
+7 more
GConflicting classifications of pathogenicity
FLCN
(A27S)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GUncertain significance
FLCN
(S329F +1 more)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
+6 more
GUncertain significance
FLCN
(T263K +1 more)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
+6 more
GConflicting classifications of pathogenicity
FLCN
(L218F +1 more)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
+5 more
GUncertain significance
FLCN
(R578Q +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GUncertain significance
FLCN
(V457M +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GUncertain significance
FLCN
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+5 more
GLikely benign
FLCN
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+6 more
GLikely benign
FLCN
Single nucleotide variant
(synonymous variant)
Nonpapillary renal cell carcinoma
+5 more
GLikely benign
FLCN
Single nucleotide variant
(synonymous variant)
FLCN-related condition
+6 more
GLikely benign
FLCN
Single nucleotide variant
(intron variant)
Nonpapillary renal cell carcinoma
+6 more
GLikely benign
FLCN
(K77T)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
+4 more
GUncertain significance
FLCN
(R286W +1 more)
Single nucleotide variant
(missense variant)
Potocki-Lupski syndrome
+8 more
GConflicting classifications of pathogenicity
FLCN
(P572H +1 more)
Single nucleotide variant
(missense variant)
Potocki-Lupski syndrome
+4 more
GUncertain significance
FLCN
(R464H +1 more)
Single nucleotide variant
(missense variant)
Potocki-Lupski syndrome
+6 more
GConflicting classifications of pathogenicity
FLCN
(L525F +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GUncertain significance
FLCN
(E455K +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+7 more
GConflicting classifications of pathogenicity
FLCN
(R127Q)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GUncertain significance
FLCN
(R194Q +1 more)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
+5 more
GUncertain significance
FLCN
(L29P)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GConflicting classifications of pathogenicity
FLCN
(E318K +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GUncertain significance
FLCN
(S243L +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GUncertain significance
FLCN
Microsatellite
(inframe_deletion)
Birt-Hogg-Dube syndrome
+4 more
GUncertain significance
FLCN
(V437L +1 more)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
+4 more
GUncertain significance
FLCN
(R59C)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GConflicting classifications of pathogenicity
FLCN
(I4V)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GUncertain significance
FLCN
Single nucleotide variant
(intron variant)
Birt-Hogg-Dube syndrome
+7 more
GBenign/Likely benign
MYO15A, NT5M
+47 more
Duplication
Potocki-Lupski syndrome
GPathogenic
FLCN
(A45V)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
+6 more
GConflicting classifications of pathogenicity
FLCN
(H429Y +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GConflicting classifications of pathogenicity
FLCN
(N236S +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
FLCN
(H429D +1 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
FLCN
(N546S +1 more)
Single nucleotide variant
(missense variant)
not specified
+7 more
GConflicting classifications of pathogenicity
FLCN
(R362C +1 more)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
+8 more
GUncertain significance
FLCN
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
FLCN
(A225T +1 more)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
+5 more
GConflicting classifications of pathogenicity
FLCN
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+7 more
GLikely benign
FLCN
(P278R +1 more)
Single nucleotide variant
(missense variant)
Nonpapillary renal cell carcinoma
+5 more
GUncertain significance
FLCN
(Q212K +1 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
FLCN
(G202S +1 more)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
+5 more
GConflicting classifications of pathogenicity
FLCN
(F166L +1 more)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
+6 more
GConflicting classifications of pathogenicity
FLCN
(V151M +1 more)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
+6 more
GConflicting classifications of pathogenicity
FLCN
Single nucleotide variant
(intron variant)
Birt-Hogg-Dube syndrome
+4 more
GConflicting classifications of pathogenicity
FLCN
Single nucleotide variant
(intron variant)
FLCN-related condition
+6 more
GBenign
FLCN
Single nucleotide variant
(intron variant)
Birt-Hogg-Dube syndrome
+5 more
GConflicting classifications of pathogenicity
FLCN
(Q458R +1 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
FLCN
(G398A +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
FLCN
(M363L +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GUncertain significance
FLCN
Single nucleotide variant
(intron variant)
Birt-Hogg-Dube syndrome
+5 more
GBenign/Likely benign
FLCN
(R17fs)
Duplication
(frameshift variant)
Potocki-Lupski syndrome
+2 more
GPathogenic
FLCN
(G453fs +1 more)
Deletion
(frameshift variant)
Familial spontaneous pneumothorax
+5 more
GPathogenic/Likely pathogenic
FLCN
(W553R +1 more)
Single nucleotide variant
(missense variant)
Familial spontaneous pneumothorax
+6 more
GPathogenic/Likely pathogenic
FLCN
Single nucleotide variant
(synonymous variant)
Nonpapillary renal cell carcinoma
+7 more
GBenign/Likely benign
FLCN
Single nucleotide variant
(synonymous variant)
Nonpapillary renal cell carcinoma
+7 more
GBenign/Likely benign
FLCN
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+6 more
GBenign/Likely benign
FLCN
Single nucleotide variant
(intron variant)
Birt-Hogg-Dube syndrome
+6 more
GBenign/Likely benign
FLCN
(R179W +1 more)
Single nucleotide variant
(missense variant)
not specified
+7 more
GConflicting classifications of pathogenicity
FLCN
(S38I)
Single nucleotide variant
(missense variant)
not provided
+8 more
GConflicting classifications of pathogenicity
FLCN
Single nucleotide variant
(splice donor variant)
Nonpapillary renal cell carcinoma
+6 more
GConflicting classifications of pathogenicity
FLCN
(L250M +1 more)
Single nucleotide variant
(missense variant)
Nonpapillary renal cell carcinoma
+6 more
GConflicting classifications of pathogenicity
FLCN
Single nucleotide variant
(synonymous variant)
not specified
+7 more
GBenign/Likely benign
FLCN
(R179Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
FLCN
(R477Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GConflicting classifications of pathogenicity
FLCN
Single nucleotide variant
(splice donor variant)
not provided
+6 more
GPathogenic
FLCN
(R477* +1 more)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+7 more
GPathogenic
FLCN
(R239H +1 more)
Single nucleotide variant
(missense variant)
Potocki-Lupski syndrome
+6 more
GConflicting classifications of pathogenicity
FLCN
(P28S)
Single nucleotide variant
(missense variant)
Potocki-Lupski syndrome
+6 more
GConflicting classifications of pathogenicity
FLCN
(L205P +1 more)
Single nucleotide variant
(missense variant)
Potocki-Lupski syndrome
+5 more
GConflicting classifications of pathogenicity
FLCN
Single nucleotide variant
(synonymous variant)
FLCN-related condition
+7 more
GBenign/Likely benign
FLCN
(A64fs)
Deletion
(frameshift variant)
Nonpapillary renal cell carcinoma
+6 more
GPathogenic/Likely pathogenic
FLCN
Single nucleotide variant
(splice donor variant)
Hereditary cancer-predisposing syndrome
+7 more
GPathogenic/Likely pathogenic
FLCN
(E455G +1 more)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
+6 more
GConflicting classifications of pathogenicity
FLCN
(R570H +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GConflicting classifications of pathogenicity
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