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Links from MedGen

Items: 100

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIEZO1
(D1133N +1 more)
Single nucleotide variant
(missense variant)
Lymphatic malformation 6
GUncertain significance
HSALR1, PIEZO1
(M367I +1 more)
Single nucleotide variant
(missense variant)
Lymphatic malformation 6
GUncertain significance
PIEZO1
(C1205del +1 more)
Deletion
(inframe_deletion +1 more)
Lymphatic malformation 6
GUncertain significance
PIEZO1
(H1050R +1 more)
Single nucleotide variant
(missense variant)
Lymphatic malformation 6
GUncertain significance
PIEZO1
(L41del)
Microsatellite
(inframe_deletion)
Lymphatic malformation 6
GLikely pathogenic
PIEZO1
(Y1152* +1 more)
Single nucleotide variant
(nonsense)
Lymphatic malformation 6
GPathogenic
PIEZO1
(Y1448fs)
Deletion
(frameshift variant)
Lymphatic malformation 6
GLikely pathogenic
TBX19
Single nucleotide variant
(splice acceptor variant)
Lymphatic malformation 6
GLikely pathogenic
PIEZO1
Single nucleotide variant
(splice donor variant)
Lymphatic malformation 6
GPathogenic
PIEZO1, LOC100289580
(Y460* +1 more)
Single nucleotide variant
(nonsense)
Lymphatic malformation 6
GPathogenic
PIEZO1
(G1220S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PIEZO1
(Q1033P +1 more)
Single nucleotide variant
(missense variant)
Lymphatic malformation 6
+1 more
GUncertain significance
PIEZO1
Deletion
(inframe_deletion +1 more)
Lymphatic malformation 6
GUncertain significance
PIEZO1, LOC100289580
Single nucleotide variant
(synonymous variant)
Lymphatic malformation 6
GUncertain significance
LOC100289580, PIEZO1
(Q461*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
HSALR1, PIEZO1
Single nucleotide variant
(splice acceptor variant)
Lymphatic malformation 6
GLikely pathogenic
PIEZO1
Microsatellite
(inframe_deletion)
not provided
+2 more
GUncertain significance
PIEZO1
Duplication
(inframe_insertion)
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
+2 more
GConflicting classifications of pathogenicity
HSALR1, PIEZO1
Single nucleotide variant
(intron variant)
Lymphatic malformation 6
+2 more
GBenign
HSALR1, PIEZO1
Single nucleotide variant
(non-coding transcript variant +1 more)
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
+2 more
GBenign
PIEZO1
Single nucleotide variant
(intron variant)
Lymphatic malformation 6
+2 more
GBenign
HSALR1, PIEZO1
Single nucleotide variant
(intron variant)
Lymphatic malformation 6
+2 more
GBenign
HSALR1, PIEZO1
Single nucleotide variant
(intron variant)
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
+2 more
GBenign
PIEZO1
Single nucleotide variant
(intron variant)
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
+2 more
GBenign
HSALR1, LOC130059751
+1 more
Duplication
(intron variant)
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
+2 more
GBenign
PIEZO1
Single nucleotide variant
(intron variant)
Lymphatic malformation 6
+2 more
GBenign
PIEZO1
Deletion
(intron variant)
Lymphatic malformation 6
+2 more
GBenign
PIEZO1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
PIEZO1
Single nucleotide variant
(intron variant)
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
+2 more
GBenign
HSALR1, PIEZO1
Deletion
(splice acceptor variant)
Lymphatic malformation 6
+1 more
GBenign/Likely benign
PIEZO1
(T1732M)
Single nucleotide variant
(missense variant)
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
+2 more
GBenign/Likely benign
PIEZO1
(C2071R)
Single nucleotide variant
(missense variant)
Lymphatic malformation 6
GUncertain significance
PIEZO1
(Y1763*)
Single nucleotide variant
(nonsense)
Lymphatic malformation 6
+1 more
GPathogenic/Likely pathogenic
PIEZO1
(R1915G)
Single nucleotide variant
(missense variant)
Lymphatic malformation 6
GUncertain significance
LOC100289580, PIEZO1
(R801C)
Single nucleotide variant
(missense variant)
Lymphatic malformation 6
GUncertain significance
PIEZO1
(G7R)
Single nucleotide variant
(missense variant)
Lymphatic malformation 6
GUncertain significance
PIEZO1
Single nucleotide variant
(intron variant)
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
+2 more
GBenign/Likely benign
HSALR1, PIEZO1
Single nucleotide variant
(non-coding transcript variant +1 more)
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
+2 more
GBenign
HSALR1, PIEZO1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
HSALR1, PIEZO1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
PIEZO1
(T1617M)
Single nucleotide variant
(missense variant)
Lymphatic malformation 6
+2 more
GUncertain significance
PIEZO1
(S1425fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
LOC100289580, PIEZO1
(C1064F)
Single nucleotide variant
(missense variant)
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
+1 more
GLikely pathogenic
PIEZO1
(D1066G)
Single nucleotide variant
(missense variant)
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
+1 more
GLikely pathogenic
PIEZO1
(E2322*)
Single nucleotide variant
(nonsense)
Lymphatic malformation 6
GPathogenic
PIEZO1
(R1925W)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
PIEZO1
(V1458fs)
Indel
(frameshift variant)
Lymphatic malformation 6
GLikely pathogenic
PIEZO1
(E1764*)
Single nucleotide variant
(nonsense)
Lymphatic malformation 6
+1 more
GLikely pathogenic
LOC100289580, PIEZO1
(S831L)
Single nucleotide variant
(missense variant)
Lymphatic malformation 6
+1 more
GConflicting classifications of pathogenicity
PIEZO1
(V2052I)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
HSALR1, PIEZO1
Single nucleotide variant
(intron variant)
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
+2 more
GBenign/Likely benign
PIEZO1
Single nucleotide variant
(synonymous variant)
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
+2 more
GBenign/Likely benign
PIEZO1
Single nucleotide variant
(synonymous variant)
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
+2 more
GBenign/Likely benign
HSALR1, PIEZO1
Deletion
(intron variant)
not provided
+2 more
GBenign/Likely benign
PIEZO1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
PIEZO1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
PIEZO1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
PIEZO1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
HSALR1, LOC130059751
+1 more
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
PIEZO1
Single nucleotide variant
(synonymous variant)
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
+2 more
GLikely benign
PIEZO1
Single nucleotide variant
(synonymous variant)
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
+2 more
GBenign/Likely benign
HSALR1, PIEZO1
(F1000L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PIEZO1
(R2518P)
Single nucleotide variant
(missense variant)
Lymphatic malformation 6
+1 more
GUncertain significance
HSALR1, PIEZO1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
PIEZO1
(T1851M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
PIEZO1, HSALR1
Single nucleotide variant
(synonymous variant)
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
+2 more
GBenign/Likely benign
PIEZO1
(K2070Q)
Single nucleotide variant
(missense variant)
Lymphatic malformation 6
GLikely pathogenic
PIEZO1
(W1069*)
Single nucleotide variant
(nonsense)
Lymphatic malformation 6
GLikely pathogenic
PIEZO1, LOC100289580
(R1036H)
Single nucleotide variant
(missense variant)
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
+3 more
GUncertain significance
HSALR1, PIEZO1
(Q422*)
Single nucleotide variant
(nonsense)
Lymphatic malformation 6
+1 more
GPathogenic
PIEZO1
(V1223I)
Single nucleotide variant
(missense variant)
Lymphatic malformation 6
+1 more
GLikely benign
HSALR1, PIEZO1
Single nucleotide variant
(non-coding transcript variant +1 more)
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
+2 more
GBenign
HSALR1, LOC130059751
+1 more
(V394L)
Single nucleotide variant
(missense variant)
Lymphatic malformation 6
+2 more
GBenign
PIEZO1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
PIEZO1
Single nucleotide variant
(synonymous variant)
Lymphatic malformation 6
+2 more
GBenign
PIEZO1
Single nucleotide variant
(synonymous variant)
Lymphatic malformation 6
+2 more
GBenign
PIEZO1
Single nucleotide variant
(synonymous variant)
Lymphatic malformation 6
+2 more
GBenign
PIEZO1
(I83T)
Single nucleotide variant
(missense variant)
Lymphatic malformation 6
+2 more
GBenign
PIEZO1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
HSALR1, PIEZO1
Single nucleotide variant
(intron variant)
Lymphatic malformation 6
+2 more
GBenign
HSALR1, PIEZO1
(V250A)
Single nucleotide variant
(non-coding transcript variant +1 more)
Lymphatic malformation 6
+2 more
GBenign
PIEZO1
Single nucleotide variant
(intron variant)
Lymphatic malformation 6
+2 more
GBenign
PIEZO1
Single nucleotide variant
(synonymous variant)
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
+2 more
GBenign
PIEZO1
Single nucleotide variant
(synonymous variant)
Lymphatic malformation 6
+2 more
GBenign
PIEZO1, HSALR1
(R407G)
Single nucleotide variant
(missense variant)
Lymphatic malformation 6
+2 more
GBenign
PIEZO1
(P1398L)
Single nucleotide variant
(missense variant)
Lymphatic malformation 6
+2 more
GBenign
PIEZO1
(P1857S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
PIEZO1
(K1878del)
Microsatellite
(inframe_deletion)
Lymphatic malformation 6
+2 more
GBenign
PIEZO1
(I2265V)
Single nucleotide variant
(missense variant)
Lymphatic malformation 6
+2 more
GBenign
PIEZO1
Microsatellite
(inframe_insertion)
Lymphatic malformation 6
+2 more
GPathogenic
PIEZO1
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
HSALR1, PIEZO1
(G782S)
Single nucleotide variant
(missense variant)
Lymphatic malformation 6
+2 more
GConflicting classifications of pathogenicity
PIEZO1
(P2430L)
Single nucleotide variant
(missense variant)
Lymphatic malformation 6
GPathogenic
LOC100289580, PIEZO1
Single nucleotide variant
(splice donor variant)
Lymphatic malformation 6
GPathogenic
PIEZO1
(V2171F)
Single nucleotide variant
(missense variant)
Lymphatic malformation 6
GPathogenic
PIEZO1
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
PIEZO1
(Q2228*)
Single nucleotide variant
(nonsense)
Lymphatic malformation 6
GPathogenic
PIEZO1
(E1630*)
Single nucleotide variant
(nonsense)
Lymphatic malformation 6
GPathogenic
LOC100289580, PIEZO1
(E755*)
Single nucleotide variant
(nonsense)
Lymphatic malformation 6
GPathogenic
HSALR1, PIEZO1
(R808Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
GPathogenic
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