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Links from MedGen

Items: 76

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FOXL2
Single nucleotide variant
(5 prime UTR variant)
Premature ovarian insufficiency
GUncertain significance
MRPS7
(K125*)
Single nucleotide variant
(nonsense)
Sensorineural hearing loss disorder
+1 more
GLikely pathogenic
CLPB, LOC126861258
Single nucleotide variant
(intron variant)
Neutropenia
+1 more
GPathogenic
TP63
(Y18C)
Single nucleotide variant
(missense variant +1 more)
Premature ovarian insufficiency
GUncertain significance
TP63
(R468C +4 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Premature ovarian failure 21
+1 more
GPathogenic
TP63
(R95P +1 more)
Single nucleotide variant
(missense variant)
Premature ovarian failure 21
+1 more
GPathogenic
MRPS7
(R179H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
HROB
(E141fs)
Deletion
(frameshift variant)
Premature ovarian insufficiency
GLikely pathogenic
REC8
Single nucleotide variant
(splice donor variant)
Premature ovarian insufficiency
GLikely pathogenic
REC8
(A346fs)
Duplication
(frameshift variant)
Premature ovarian insufficiency
GLikely pathogenic
Leukopenia
+1 more
GLikely pathogenic
STAG3
(A590T +1 more)
Single nucleotide variant
(missense variant +1 more)
Non-obstructive azoospermia
+1 more
GUncertain significance
STAG3
(L594del +1 more)
Deletion
(inframe_deletion +1 more)
Premature ovarian insufficiency
+1 more
GLikely pathogenic
ERCC1
Deletion
(splice acceptor variant +1 more)
Cutaneous photosensitivity
+4 more
GPathogenic
ERCC1
(R156W)
Single nucleotide variant
(missense variant)
Cutaneous photosensitivity
+5 more
GConflicting classifications of pathogenicity
GGPS1
(R207H +1 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome
+3 more
GConflicting classifications of pathogenicity
TFAM
(R200C +1 more)
Single nucleotide variant
(missense variant +1 more)
Premature ovarian insufficiency
+1 more
GUncertain significance
TOP1MT
(R274P +1 more)
Single nucleotide variant
(missense variant)
Premature ovarian insufficiency
+1 more
GUncertain significance
PEX6
(L124P)
Single nucleotide variant
(missense variant +1 more)
Cognitive impairment
+5 more
GPathogenic
MSH4
(S754L)
Single nucleotide variant
(missense variant)
Oligospermia
+2 more
GPathogenic/Likely pathogenic
Translocation
Endometriosis
+1 more
GUncertain significance
ABCD1, ACTRT1
+221 more
Copy number loss
Premature ovarian insufficiency
GLikely pathogenic
GREM1
(L156F +2 more)
Single nucleotide variant
(missense variant)
Premature ovarian insufficiency
GUncertain significance
CCNT2
Single nucleotide variant
(splice donor variant)
Premature ovarian insufficiency
GUncertain significance
FOXK2
(R52C)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
FOXK2
(A479V)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
NUP155
Deletion
(intron variant +1 more)
Premature ovarian insufficiency
GUncertain significance
HERC1
(I1644T)
Single nucleotide variant
(missense variant)
Premature ovarian insufficiency
GUncertain significance
HERC1
(T2746A)
Single nucleotide variant
(missense variant)
Premature ovarian insufficiency
GUncertain significance
AMHR2
(L427W)
Single nucleotide variant
(missense variant +1 more)
Premature ovarian insufficiency
GUncertain significance
REC8
(P291L)
Single nucleotide variant
(missense variant)
Premature ovarian insufficiency
GUncertain significance
LOC130061409, SMARCD2
(A32fs)
Deletion
(frameshift variant)
Specific granule deficiency 2
+1 more
GConflicting classifications of pathogenicity
NTRK3
(D499N +2 more)
Single nucleotide variant
(missense variant)
Premature ovarian insufficiency
GUncertain significance
CENPI
(R166H)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
TP63
(W598* +4 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Premature ovarian failure 21
+1 more
GPathogenic
TP63
(R594* +4 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Premature ovarian failure 21
+1 more
GPathogenic
MCM9
(N304S +1 more)
Single nucleotide variant
(missense variant +2 more)
MCM9-related disorder
+2 more
GLikely benign
BMPR1B
(K202R +1 more)
Single nucleotide variant
(missense variant)
Premature ovarian insufficiency
GUncertain significance
NEK8
(S367T)
Single nucleotide variant
(missense variant)
Renal-hepatic-pancreatic dysplasia 2
+1 more
GUncertain significance
SSH1
(Q59fs +1 more)
Duplication
(frameshift variant)
Premature ovarian insufficiency
GUncertain significance
STAG1
(D212N)
Single nucleotide variant
(missense variant)
Premature ovarian insufficiency
GUncertain significance
NUP107
(R21W)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
CAMSAP2
(I837R +3 more)
Single nucleotide variant
(missense variant)
Premature ovarian insufficiency
GUncertain significance
CAMSAP2
(M623T +3 more)
Single nucleotide variant
(missense variant)
Premature ovarian insufficiency
GUncertain significance
ESRRG
(P20fs)
Microsatellite
(frameshift variant +1 more)
Premature ovarian insufficiency
GUncertain significance
DNAH1
(M1665T)
Single nucleotide variant
(missense variant)
Premature ovarian insufficiency
GUncertain significance
TTC16
(R119Q +1 more)
Single nucleotide variant
(missense variant)
Premature ovarian insufficiency
GUncertain significance
USP53
(F992C +4 more)
Single nucleotide variant
(missense variant +1 more)
Premature ovarian insufficiency
GUncertain significance
UBR4
(R671Q)
Single nucleotide variant
(missense variant)
Premature ovarian insufficiency
GUncertain significance
USP53
(R418Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Premature ovarian insufficiency
GUncertain significance
USP53
(R58Q)
Single nucleotide variant
(missense variant +1 more)
Premature ovarian insufficiency
GUncertain significance
SOX3
(A433S)
Single nucleotide variant
(missense variant)
Premature ovarian insufficiency
GUncertain significance
CKB
(D189H +1 more)
Single nucleotide variant
(missense variant)
Premature ovarian insufficiency
GUncertain significance
PREPL, SLC3A1
Deletion
Premature ovarian insufficiency
GPathogenic
PREPL
(K294fs +1 more)
Indel
(frameshift variant)
Premature ovarian insufficiency
GPathogenic
PDGFD, DDI1
(G239*)
Duplication
(nonsense +1 more)
Premature ovarian insufficiency
GUncertain significance
CDC7
Deletion
(nonsense)
Premature ovarian insufficiency
GUncertain significance
CROCC
(R1223Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CROCC
(R927Q)
Single nucleotide variant
(missense variant)
Premature ovarian insufficiency
GUncertain significance
ESRRB
(M1I +1 more)
Single nucleotide variant
(missense variant +1 more)
Premature ovarian insufficiency
GUncertain significance
ESRRG
(Y333C +5 more)
Single nucleotide variant
(missense variant)
Premature ovarian insufficiency
GUncertain significance
ERCC6L2
(G719fs)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
PEX6
(R786W +1 more)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder
+4 more
GConflicting classifications of pathogenicity
EIF2B2
(K273R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
EIF2B2
(R172*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
NBN
(Q291* +1 more)
Single nucleotide variant
(nonsense)
Microcephaly, normal intelligence and immunodeficiency
GPathogenic
DNAH1
(D906G)
Single nucleotide variant
(missense variant)
Spermatogenic failure 18
+2 more
GBenign/Likely benign
STAG3
(R926* +1 more)
Single nucleotide variant
(nonsense)
not provided
+4 more
GLikely pathogenic
FANCL
Deletion
(inframe_indel)
FANCL-related disorder
+4 more
GConflicting classifications of pathogenicity
RAD50, TH2LCRR
(S1303G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CLPB, LOC126861258
(R417* +3 more)
Single nucleotide variant
(nonsense)
Neutropenia, severe congenital, 9, autosomal dominant
+3 more
GPathogenic
RAD51C
(I144T)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
MRE11
(G102V)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia-like disorder
+1 more
GConflicting classifications of pathogenicity
RAD50
(R726H)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
NEK8
(R599*)
Single nucleotide variant
(nonsense)
Renal-hepatic-pancreatic dysplasia 2
+2 more
GPathogenic/Likely pathogenic
POF1B
(R329Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
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