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Links from MedGen

Items: 1 to 100 of 4563

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SMARCA4
(Q1053H)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GUncertain significance
SMARCA4
(G360S)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GUncertain significance
SMARCA4
(M79I)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GUncertain significance
SMARCA4
(A130V)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GUncertain significance
SMARCA4
(Q174R)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GUncertain significance
SMARCA4
(K1374fs +4 more)
Deletion
(frameshift variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GLikely pathogenic
SMARCA4
(S41I)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GUncertain significance
SMARCA4
(L768P)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GLikely pathogenic
SMARCA4
Microsatellite
(nonsense +1 more)
Rhabdoid tumor predisposition syndrome 2
GLikely pathogenic
SMARCA4
Single nucleotide variant
(intron variant)
Rhabdoid tumor predisposition syndrome 2
GLikely benign
SMARCA4
Single nucleotide variant
(intron variant)
Rhabdoid tumor predisposition syndrome 2
GLikely benign
SMARCA4
Single nucleotide variant
(synonymous variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GLikely benign
SMARCA4
Single nucleotide variant
(intron variant)
Rhabdoid tumor predisposition syndrome 2
GLikely benign
SMARCA4
(G168S)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GUncertain significance
SMARCA4
(T1130M)
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
(R1323W +1 more)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GUncertain significance
SMARCA4
(P281L)
Single nucleotide variant
(non-coding transcript variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GUncertain significance
SMARCA4
(P691S)
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
+1 more
GLikely benign
SMARCA4
(I996V)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GUncertain significance
SMARCA4
Deletion
(intron variant)
Rhabdoid tumor predisposition syndrome 2
GBenign
SMARCA4
Single nucleotide variant
(synonymous variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GLikely benign
SMARCA4
(Y901C)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GUncertain significance
SMARCA4
Single nucleotide variant
(intron variant)
Rhabdoid tumor predisposition syndrome 2
GLikely benign
SMARCA4
(E1061K)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GUncertain significance
SMARCA4
Single nucleotide variant
(intron variant)
Rhabdoid tumor predisposition syndrome 2
GLikely benign
SMARCA4
(I962V)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GUncertain significance
SMARCA4
Single nucleotide variant
(intron variant)
Rhabdoid tumor predisposition syndrome 2
GUncertain significance
SMARCA4
Single nucleotide variant
(intron variant)
Rhabdoid tumor predisposition syndrome 2
GLikely benign
SMARCA4
Single nucleotide variant
(intron variant)
Rhabdoid tumor predisposition syndrome 2
GLikely benign
SMARCA4
Single nucleotide variant
(intron variant)
Rhabdoid tumor predisposition syndrome 2
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
+1 more
GLikely benign
SMARCA4
Single nucleotide variant
(synonymous variant +1 more)
Rhabdoid tumor predisposition syndrome 2
+1 more
GLikely benign
SMARCA4
(A317T)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GUncertain significance
SMARCA4
Single nucleotide variant
(intron variant)
Rhabdoid tumor predisposition syndrome 2
GLikely benign
SMARCA4
(G1443R +4 more)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GUncertain significance
SMARCA4
Single nucleotide variant
(intron variant)
Rhabdoid tumor predisposition syndrome 2
GLikely benign
SMARCA4
Single nucleotide variant
(intron variant)
Rhabdoid tumor predisposition syndrome 2
GLikely benign
SMARCA4
Single nucleotide variant
(intron variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GUncertain significance
SMARCA4
(G101R)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
+1 more
GUncertain significance
SMARCA4
Microsatellite
(intron variant)
Rhabdoid tumor predisposition syndrome 2
GLikely benign
SMARCA4
Single nucleotide variant
(intron variant)
Rhabdoid tumor predisposition syndrome 2
GUncertain significance
SMARCA4
Single nucleotide variant
(intron variant)
Rhabdoid tumor predisposition syndrome 2
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
Single nucleotide variant
(synonymous variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GLikely benign
SMARCA4
Single nucleotide variant
(intron variant)
Rhabdoid tumor predisposition syndrome 2
GLikely benign
SMARCA4
Single nucleotide variant
(intron variant)
Rhabdoid tumor predisposition syndrome 2
GLikely benign
SMARCA4
Single nucleotide variant
(intron variant)
Rhabdoid tumor predisposition syndrome 2
GLikely benign
SMARCA4
Single nucleotide variant
(intron variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GLikely benign
SMARCA4
Duplication
(intron variant)
Rhabdoid tumor predisposition syndrome 2
GBenign
SMARCA4
Microsatellite
(inframe_insertion +1 more)
Rhabdoid tumor predisposition syndrome 2
GUncertain significance
SMARCA4
Single nucleotide variant
(intron variant)
Rhabdoid tumor predisposition syndrome 2
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
(L567M)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GUncertain significance
SMARCA4
(E659D)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GUncertain significance
SMARCA4
Single nucleotide variant
(intron variant)
Rhabdoid tumor predisposition syndrome 2
GLikely benign
SMARCA4
Single nucleotide variant
(intron variant)
Rhabdoid tumor predisposition syndrome 2
GLikely benign
SMARCA4
(E665G)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GUncertain significance
SMARCA4
Single nucleotide variant
(intron variant)
Rhabdoid tumor predisposition syndrome 2
GLikely benign
SMARCA4
Single nucleotide variant
(intron variant)
Rhabdoid tumor predisposition syndrome 2
GLikely benign
SMARCA4
(F1477V +6 more)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GUncertain significance
SMARCA4
Single nucleotide variant
(intron variant)
Rhabdoid tumor predisposition syndrome 2
GLikely benign
SMARCA4
(A294V)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GUncertain significance
SMARCA4
Single nucleotide variant
(intron variant)
Rhabdoid tumor predisposition syndrome 2
GLikely benign
SMARCA4
Single nucleotide variant
(synonymous variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GLikely benign
SMARCA4
Single nucleotide variant
(intron variant)
Rhabdoid tumor predisposition syndrome 2
GLikely benign
SMARCA4
(M326V)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GUncertain significance
SMARCA4
Single nucleotide variant
(intron variant)
Rhabdoid tumor predisposition syndrome 2
GLikely benign
SMARCA4
Single nucleotide variant
(intron variant)
Rhabdoid tumor predisposition syndrome 2
GLikely benign
SMARCA4
Single nucleotide variant
(intron variant)
Rhabdoid tumor predisposition syndrome 2
GLikely benign
SMARCA4
Single nucleotide variant
(synonymous variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GLikely benign
SMARCA4
Single nucleotide variant
(intron variant)
Rhabdoid tumor predisposition syndrome 2
GLikely benign
SMARCA4
(L302M)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GUncertain significance
SMARCA4
(G257V)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GUncertain significance
SMARCA4
Single nucleotide variant
(intron variant)
Rhabdoid tumor predisposition syndrome 2
GLikely benign
SMARCA4
Single nucleotide variant
(intron variant)
Rhabdoid tumor predisposition syndrome 2
GLikely benign
SMARCA4
Single nucleotide variant
(intron variant)
Rhabdoid tumor predisposition syndrome 2
GLikely benign
SMARCA4
Single nucleotide variant
(intron variant)
Rhabdoid tumor predisposition syndrome 2
GLikely benign
SMARCA4
Single nucleotide variant
(intron variant)
Rhabdoid tumor predisposition syndrome 2
GLikely benign
SMARCA4
Single nucleotide variant
(intron variant)
Rhabdoid tumor predisposition syndrome 2
GLikely benign
SMARCA4
Single nucleotide variant
(synonymous variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GLikely benign
SMARCA4
Single nucleotide variant
(intron variant)
Rhabdoid tumor predisposition syndrome 2
GLikely benign
SMARCA4
Single nucleotide variant
(intron variant)
Rhabdoid tumor predisposition syndrome 2
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
Single nucleotide variant
(synonymous variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GLikely benign
SMARCA4
Single nucleotide variant
(intron variant)
Rhabdoid tumor predisposition syndrome 2
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
(Q205E)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GUncertain significance
SMARCA4
(G775S)
Single nucleotide variant
(missense variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GUncertain significance
SMARCA4
Single nucleotide variant
(intron variant)
Rhabdoid tumor predisposition syndrome 2
GUncertain significance
SMARCA4
Single nucleotide variant
(intron variant)
Rhabdoid tumor predisposition syndrome 2
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
Single nucleotide variant
(synonymous variant +1 more)
Rhabdoid tumor predisposition syndrome 2
GLikely benign
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