U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 147

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GAPDH, GAU1
+477 more
Deletion
Tumoral calcinosis, hyperphosphatemic, familial, 1
Gnot provided
TAS2R9, TEAD4
+1258 more
Copy number gain
See cases
GPathogenic
CLEC12A, CLEC12A-AS1
+1258 more
Copy number gain
See cases
GPathogenic
LOC126861410, LOC126861411
+1258 more
Copy number gain
See cases
GPathogenic
A2M, A2M-AS1
+1009 more
Copy number gain
See cases
GPathogenic
LOC130007230, LOC130007231
+1257 more
Copy number gain
See cases
GPathogenic
ACAD10, ACADS
+4836 more
Copy number gain
See cases
GPathogenic
LOC126861494, LOC126861495
+1257 more
Copy number gain
See cases
GPathogenic
CACNA1C-AS2, CACNA1C-AS4
+1242 more
Copy number gain
See cases
GPathogenic
A2M, A2M-AS1
+853 more
Copy number gain
See cases
GPathogenic
LOC130007190, LOC130007191
+698 more
Copy number gain
See cases
GPathogenic
A2M, A2M-AS1
+12 more
Copy number gain
See cases
GUncertain significance
PHC1
(S5R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHC1
(G20S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHC1
(S21T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC1
(P24L)
Single nucleotide variant
(missense variant)
Microcephaly 11, primary, autosomal recessive
GUncertain significance
PHC1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
PHC1
(R34*)
Single nucleotide variant
(nonsense)
Microcephaly 11, primary, autosomal recessive
GPathogenic
PHC1
(R34Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC1
Single nucleotide variant
(intron variant)
not provided
GBenign
PHC1
Single nucleotide variant
(intron variant)
not provided
GBenign
PHC1
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
PHC1
Single nucleotide variant
(synonymous variant +2 more)
PHC1-related disorder
GLikely benign
PHC1
(R45Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHC1
(Q95P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC1
(Q63R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHC1
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
PHC1
(S72P +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PHC1
(P86S +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PHC1
Single nucleotide variant
(synonymous variant)
Microcephaly 11, primary, autosomal recessive
+1 more
GBenign
PHC1
(T129A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC1
Single nucleotide variant
(intron variant)
not provided
GBenign
PHC1
Single nucleotide variant
(synonymous variant)
not specified
GUncertain significance
PHC1
(M141I +5 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PHC1
Single nucleotide variant
(intron variant)
not specified
GLikely benign
PHC1
Single nucleotide variant
(intron variant)
not provided
GBenign
PHC1
Single nucleotide variant
(intron variant)
not provided
GBenign
PHC1
(N199K +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHC1
(A193S +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHC1
(A197S +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHC1
(S263T +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHC1
(M242V +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHC1
(L239V +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHC1
(L239W +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHC1
Single nucleotide variant
(synonymous variant)
Microcephaly 11, primary, autosomal recessive
+2 more
GBenign
PHC1
(K287N +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC1
(R303Q +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC1
Single nucleotide variant
(intron variant)
not provided
GBenign
PHC1
Single nucleotide variant
(intron variant)
not provided
GBenign
PHC1
Single nucleotide variant
(synonymous variant +1 more)
PHC1-related disorder
GLikely benign
PHC1
(R358Q +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC1
(Q361R +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHC1
Microsatellite
(inframe_deletion)
not provided
GBenign
PHC1
(Q375L +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHC1
(Q378H +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHC1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PHC1
(Q431P +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC1
(A440T +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC1
(Q397H +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHC1
(Q449P +5 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PHC1
(V457F +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC1
(Q411H +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC1
(Q415K +4 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GBenign
PHC1
(V421I +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC1
(Q474K +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC1
(P455L +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
PHC1
(A481P +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC1
(R533Q)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PHC1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
PHC1
(R556W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC1
(P527A +4 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely benign
PHC1
(L464W +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC1
(M593L)
Single nucleotide variant
(missense variant)
Microcephaly 11, primary, autosomal recessive
GUncertain significance
PHC1
(G467E +7 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
PHC1
(H629N)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
PHC1
(P594L +7 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PHC1
Single nucleotide variant
(intron variant)
not provided
GBenign
PHC1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PHC1
(K447R +13 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHC1
Single nucleotide variant
(intron variant)
not provided
GBenign
PHC1
(E684A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PHC1
(T693A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
PHC1
(T512I +13 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PHC1
(A704T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
PHC1
(S493L +13 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC1
(G517A +13 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHC1
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
PHC1
Single nucleotide variant
(intron variant)
not provided
GBenign
PHC1
Single nucleotide variant
(intron variant)
PHC1-related disorder
GLikely benign
PHC1
(P733L +13 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC1
(E588D +13 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHC1
Single nucleotide variant
(intron variant)
not provided
GBenign
PHC1
Single nucleotide variant
(intron variant)
not provided
GBenign
PHC1
(K691T +13 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PHC1
(E665Q +13 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHC1
(N620S +13 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHC1
(R675C +13 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
Format
Items per page
Sort by
Choose Destination