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Items: 1 to 100 of 541

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAL, CATSPER2
+69 more
Copy number loss
See cases
GLikely pathogenic
STARD9
(K15E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(I24V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(N42Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(K53R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(M55V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
STARD9
(E69G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(I126M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(E134G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(C144Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(Y154H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(R157Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(S170C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(R174Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
STARD9
(P183L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
Single nucleotide variant
(intron variant)
STARD9-related disorder
GLikely benign
STARD9
(I227S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(T229M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(T229K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(N240S)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
STARD9
(L241F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
Single nucleotide variant
(synonymous variant)
STARD9-related disorder
GBenign
STARD9
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
STARD9
(E258K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(A260T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
STARD9
(Q294E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(S317P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(R329Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
STARD9
(S332P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
STARD9
(S348G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(S367R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
STARD9
(S369R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(S379P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
Single nucleotide variant
(synonymous variant)
STARD9-related disorder
GLikely benign
STARD9
Single nucleotide variant
(intron variant)
not provided
GBenign
STARD9
(E431D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(L432M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(N466H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(G471R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
STARD9
Single nucleotide variant
(synonymous variant)
not provided
GBenign
STARD9
(S476F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(S510L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(T529I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(V537A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(R540Q)
Single nucleotide variant
(missense variant)
not provided
GBenign
STARD9
(R543P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(R543H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(G544A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(R546C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(R546L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(N550S)
Single nucleotide variant
(missense variant)
STARD9-related disorder
GBenign
STARD9
(R552Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(R552L)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
STARD9
(A556S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(R559H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(R588Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(Q590K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
STARD9
(V591D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(A596G)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
STARD9
(R598C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(D607G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(R614W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(R614Q)
Single nucleotide variant
(missense variant)
not provided
GBenign
STARD9
(A627V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
STARD9
(P639L)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
STARD9
(R670Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
STARD9
(E709K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(R752W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(R765W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(S769L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(R787K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(E804K)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
STARD9
(T815R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(P817R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(T826M)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
STARD9
(S832N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(P863S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(L877V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(Y883C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(T887A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
STARD9
(R891C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(A911D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(P926S)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
STARD9
(M934T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(E935K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
Single nucleotide variant
(synonymous variant)
STARD9-related disorder
GLikely benign
STARD9
(R991Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
STARD9
(G1004R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(Q1017K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(T1027I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(T1030R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(K1042E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(P1063L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(R1070G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD9
(T1074A)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
STARD9
(M1080I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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