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 5444

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACP5, ANGPTL6
+536 more
Copy number gain
See cases
GLikely pathogenic
ANGPTL6, AP1M2
+184 more
Copy number loss
See cases
GPathogenic
LOC130063608, LOC130063609
+484 more
Copy number gain
See cases
GPathogenic
LOC130063636, LOC130063637
+434 more
Copy number loss
See cases
GPathogenic
LOC130063547, SMARCA4
Single nucleotide variant
not provided
GBenign
LOC130063547, SMARCA4
Single nucleotide variant
(5 prime UTR variant +1 more)
Coffin-Siris syndrome
GLikely benign
LOC130063547, SMARCA4
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GLikely benign
SMARCA4
Single nucleotide variant
(intron variant)
Coffin-Siris syndrome
GUncertain significance
SMARCA4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SMARCA4
Single nucleotide variant
(intron variant)
Rhabdoid tumor predisposition syndrome 2
GUncertain significance
LOC130063548, SMARCA4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SMARCA4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SMARCA4
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SMARCA4
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
LOC130063552, LOC130063553
+3 more
Deletion
Rhabdoid tumor predisposition syndrome 2
GPathogenic
SMARCA4
Duplication
Rhabdoid tumor predisposition syndrome 2
GUncertain significance
SMARCA4
Single nucleotide variant
(5 prime UTR variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
SMARCA4
(M1I)
Single nucleotide variant
(missense variant +2 more)
Neurodevelopmental disorder
+1 more
GUncertain significance
SMARCA4
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+2 more
GLikely benign
SMARCA4
(T3A)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GUncertain significance
SMARCA4
(T3P)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
SMARCA4
(T3N)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
+1 more
GUncertain significance
SMARCA4
(T3I)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
+1 more
GUncertain significance
SMARCA4
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
SMARCA4
(P4A)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
+1 more
GUncertain significance
SMARCA4
(P4S)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
+1 more
GUncertain significance
SMARCA4
(P4Q)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
SMARCA4
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely benign
SMARCA4
(D5H)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
SMARCA4
Single nucleotide variant
(synonymous variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GLikely benign
SMARCA4
(P6Q)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GUncertain significance
SMARCA4
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely benign
SMARCA4
(P7A)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GUncertain significance
SMARCA4
(P7T)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GUncertain significance
SMARCA4
(P7R)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
SMARCA4
(P7H)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
+2 more
GUncertain significance
SMARCA4
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely benign
SMARCA4
Single nucleotide variant
(synonymous variant +1 more)
Rhabdoid tumor predisposition syndrome 2
+1 more
GLikely benign
SMARCA4
(L8M)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
SMARCA4
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
SMARCA4
Single nucleotide variant
(synonymous variant +1 more)
Rhabdoid tumor predisposition syndrome 2
+1 more
GLikely benign
SMARCA4
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
SMARCA4
(G9S)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
SMARCA4
(G9D)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
SMARCA4
Single nucleotide variant
(synonymous variant +1 more)
Rhabdoid tumor predisposition syndrome 2
+1 more
GLikely benign
SMARCA4
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
SMARCA4
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
SMARCA4
(G10R)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GUncertain significance
SMARCA4
(T11A)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
SMARCA4
(P12fs)
Deletion
(frameshift variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GPathogenic
SMARCA4
(T11S)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GUncertain significance
SMARCA4
(T11I)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
+1 more
GUncertain significance
SMARCA4
Single nucleotide variant
(synonymous variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GLikely benign
SMARCA4
Single nucleotide variant
(synonymous variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GLikely benign
SMARCA4
(P12S)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
SMARCA4
(P12H)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GUncertain significance
SMARCA4
(P12L)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 16
+2 more
GUncertain significance
SMARCA4
Single nucleotide variant
(synonymous variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GLikely benign
SMARCA4
Single nucleotide variant
(synonymous variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GLikely benign
SMARCA4
(R13W)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
+1 more
GUncertain significance
SMARCA4
(R13L)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
SMARCA4
(R13P)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
SMARCA4
(R13Q)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
SMARCA4
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
SMARCA4
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
SMARCA4
(P14E)
Indel
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GUncertain significance
SMARCA4
(P14T)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
SMARCA4
Single nucleotide variant
(synonymous variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GLikely benign
SMARCA4
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely benign
SMARCA4
(G15S)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GUncertain significance
SMARCA4
(G15D)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
+1 more
GUncertain significance
SMARCA4
(G15A)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
+1 more
GUncertain significance
SMARCA4
(G15V)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GUncertain significance
SMARCA4
Single nucleotide variant
(synonymous variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GLikely benign
SMARCA4
Deletion
(inframe_deletion +1 more)
Rhabdoid tumor predisposition syndrome 2
GUncertain significance
SMARCA4
(P16R)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
+1 more
GUncertain significance
SMARCA4
(S17F)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GUncertain significance
SMARCA4
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely benign
SMARCA4
Single nucleotide variant
(synonymous variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GLikely benign
SMARCA4
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
SMARCA4
(P18L)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
SMARCA4
Single nucleotide variant
(synonymous variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GLikely benign
SMARCA4
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GBenign/Likely benign
SMARCA4
(G19V)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
SMARCA4
(G19A)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GUncertain significance
SMARCA4
Single nucleotide variant
(synonymous variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GLikely benign
SMARCA4
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
SMARCA4
Single nucleotide variant
(synonymous variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GLikely benign
SMARCA4
Single nucleotide variant
(synonymous variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GLikely benign
SMARCA4
(P22A)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GUncertain significance
SMARCA4
(P22S)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GUncertain significance
SMARCA4
(P22H)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 16
+2 more
GUncertain significance
SMARCA4
(P22L)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
SMARCA4
(P22R)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
SMARCA4
Single nucleotide variant
(synonymous variant +1 more)
Rhabdoid tumor predisposition syndrome 2
+1 more
GLikely benign
SMARCA4
(S23F)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GUncertain significance
SMARCA4
(S23C)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GUncertain significance
SMARCA4
(S23Y)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
+1 more
GUncertain significance
SMARCA4
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
SMARCA4
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
Format
Items per page
Sort by
Choose Destination