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Links from MedGen

Items: 1 to 100 of 453

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHD7
(F2124C)
Single nucleotide variant
(missense variant +1 more)
Hypogonadotropic hypogonadism 5 with or without anosmia
GLikely pathogenic
CHD7, LOC126860403
(S633*)
Single nucleotide variant
(nonsense +1 more)
Hypogonadotropic hypogonadism 5 with or without anosmia
GPathogenic
CHD7
(G1797*)
Single nucleotide variant
(nonsense +1 more)
Hypogonadotropic hypogonadism 5 with or without anosmia
GPathogenic
CHD7
(S417N)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 5 with or without anosmia
GUncertain significance
CHD7
(F1799fs)
Deletion
(frameshift variant +1 more)
Hypogonadotropic hypogonadism 5 with or without anosmia
GPathogenic
CHD7
Duplication
(inframe_insertion +1 more)
Hypogonadotropic hypogonadism 5 with or without anosmia
+1 more
GUncertain significance
SEMA3E
(P36L +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
+1 more
GConflicting classifications of pathogenicity
CHD7, LOC126860403
(G623W)
Single nucleotide variant
(missense variant +1 more)
CHARGE syndrome
+1 more
GConflicting classifications of pathogenicity
CHD7, LOC126860403
(S583T)
Single nucleotide variant
(missense variant +1 more)
Hypogonadotropic hypogonadism 5 with or without anosmia
GUncertain significance
CHD7
Deletion
Hypogonadotropic hypogonadism 5 with or without anosmia
GLikely pathogenic
CHD7
(A2731T +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
+1 more
GConflicting classifications of pathogenicity
CHD7
(S2277N)
Single nucleotide variant
(missense variant +1 more)
CHARGE syndrome
+1 more
GConflicting classifications of pathogenicity
CHD7
(S2395C)
Single nucleotide variant
(missense variant +1 more)
CHARGE syndrome
+1 more
GConflicting classifications of pathogenicity
CHD7
(M2699fs +1 more)
Deletion
(frameshift variant)
Hypogonadotropic hypogonadism 5 with or without anosmia
GLikely pathogenic
CHD7
(A2863D +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
+2 more
GUncertain significance
CHD7, LOC126860403
(P561T)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 5 with or without anosmia
+2 more
GUncertain significance
CHD7
(E2849fs +1 more)
Deletion
CHARGE syndrome
+1 more
GPathogenic
CHD7
Single nucleotide variant
(synonymous variant +1 more)
Hypogonadotropic hypogonadism 5 with or without anosmia
+1 more
GLikely benign
CHD7
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 5 with or without anosmia
+1 more
GLikely benign
CHD7
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 5 with or without anosmia
+1 more
GLikely benign
CHD7
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 5 with or without anosmia
+1 more
GLikely benign
CHD7
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 5 with or without anosmia
+1 more
GLikely benign
CHD7
Single nucleotide variant
(intron variant)
CHARGE syndrome
+1 more
GLikely benign
CHD7
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 5 with or without anosmia
+1 more
GLikely benign
CHD7
Single nucleotide variant
(synonymous variant +1 more)
CHARGE syndrome
+1 more
GLikely benign
CHD7
Single nucleotide variant
(intron variant)
CHARGE syndrome
+1 more
GBenign/Likely benign
CHD7
Single nucleotide variant
(synonymous variant +1 more)
CHARGE syndrome
+1 more
GLikely benign
CHD7
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 5 with or without anosmia
+1 more
GLikely benign
CHD7
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 5 with or without anosmia
+1 more
GBenign/Likely benign
CHD7
Single nucleotide variant
(synonymous variant +1 more)
CHARGE syndrome
+1 more
GLikely benign
CHD7
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 5 with or without anosmia
+1 more
GLikely benign
CHD7
Single nucleotide variant
(synonymous variant)
CHARGE syndrome
+1 more
GLikely benign
CHD7
Indel
Hypogonadotropic hypogonadism 5 with or without anosmia
GUncertain significance
CHD7
(V413G)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 5 with or without anosmia
+1 more
GUncertain significance
CHD7
(A2211D)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
CHD7
(A2732T +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
+2 more
GUncertain significance
CHD7
(R2337H)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
CHD7, LOC126860403
(K691E)
Single nucleotide variant
(missense variant +1 more)
CHARGE syndrome
+1 more
GUncertain significance
CHD7
(P183L)
Single nucleotide variant
(missense variant)
CHARGE syndrome
+1 more
GConflicting classifications of pathogenicity
CHD7
(D1541N)
Single nucleotide variant
(missense variant +1 more)
CHARGE syndrome
+2 more
GConflicting classifications of pathogenicity
CHD7
(R1054Q)
Single nucleotide variant
(missense variant +1 more)
CHARGE syndrome
+2 more
GConflicting classifications of pathogenicity
CHD7
(R1100C)
Single nucleotide variant
(missense variant +1 more)
CHARGE syndrome
+1 more
GUncertain significance
CHD7
(N224S)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 5 with or without anosmia
+1 more
GUncertain significance
CHD7
(A1236T)
Single nucleotide variant
(missense variant +1 more)
CHARGE syndrome
+1 more
GConflicting classifications of pathogenicity
CHD7
(S2933C +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
+2 more
GConflicting classifications of pathogenicity
CHD7
(T93I)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 5 with or without anosmia
+1 more
GUncertain significance
CHD7
(R2400W)
Single nucleotide variant
(missense variant +1 more)
CHARGE syndrome
+1 more
GUncertain significance
CHD7
(I2323V)
Single nucleotide variant
(missense variant +1 more)
CHARGE syndrome
+1 more
GConflicting classifications of pathogenicity
CHD7
(R1912H)
Single nucleotide variant
(intron variant +1 more)
Hypogonadotropic hypogonadism 5 with or without anosmia
+2 more
GConflicting classifications of pathogenicity
CHD7
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 5 with or without anosmia
+1 more
GUncertain significance
CHD7
(N2573S)
Single nucleotide variant
(missense variant +1 more)
CHARGE syndrome
+1 more
GConflicting classifications of pathogenicity
CHD7, LOC126860403
(K666R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
CHD7
(M37V)
Single nucleotide variant
(missense variant)
CHARGE syndrome
+2 more
GConflicting classifications of pathogenicity
CHD7
(A2261V)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
CHD7
(A246P)
Single nucleotide variant
(missense variant)
CHARGE syndrome
+1 more
GConflicting classifications of pathogenicity
CHD7
Single nucleotide variant
(intron variant)
CHARGE syndrome
+1 more
GConflicting classifications of pathogenicity
CHD7
(Y313C)
Single nucleotide variant
(missense variant)
CHARGE syndrome
+2 more
GConflicting classifications of pathogenicity
CHD7, LOC126860403
(K691Q)
Single nucleotide variant
(missense variant +1 more)
CHARGE syndrome
+2 more
GUncertain significance
CHD7
(P348T)
Single nucleotide variant
(missense variant)
CHARGE syndrome
+2 more
GConflicting classifications of pathogenicity
CHD7
(E2853K +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
+3 more
GConflicting classifications of pathogenicity
CHD7
(N700D)
Single nucleotide variant
(missense variant +1 more)
CHARGE syndrome
+1 more
GUncertain significance
CHD7
(L2744S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
CHD7
(Q526R)
Single nucleotide variant
(missense variant)
CHARGE syndrome
+1 more
GUncertain significance
CHD7, LOC126860403
(P656L)
Single nucleotide variant
(missense variant +1 more)
CHARGE syndrome
+2 more
GConflicting classifications of pathogenicity
CHD7
(I1015V)
Single nucleotide variant
(missense variant +1 more)
CHARGE syndrome
+2 more
GUncertain significance
CHD7
(Q1599E)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
CHD7
(N449S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CHD7
(L2060V)
Single nucleotide variant
(missense variant +1 more)
CHARGE syndrome
+2 more
GUncertain significance
CHD7
(R1955G)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
CHD7
(G482A)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CHD7, LOC126860403
(D569E)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CHD7
(R2057C)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
CHD7
(D1578E)
Single nucleotide variant
(missense variant +1 more)
CHARGE syndrome
+3 more
GConflicting classifications of pathogenicity
CHD7
(G388E)
Single nucleotide variant
(missense variant)
CHARGE syndrome
+2 more
GUncertain significance
CHD7
(M2658V +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CHD7
(A2923T +1 more)
Single nucleotide variant
(missense variant)
CHARGE syndrome
+2 more
GUncertain significance
CHD7
(G498D)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CHD7
(P2623L +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CHD7
(R1945Q)
Single nucleotide variant
(missense variant +1 more)
CHD7-related disorder
+3 more
GConflicting classifications of pathogenicity
CHD7
(A2804V +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CHD7
(R892H)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GBenign/Likely benign
CHD7
(M1574L)
Single nucleotide variant
(missense variant +1 more)
CHARGE syndrome
+1 more
GConflicting classifications of pathogenicity
CHD7
(A2714V +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CHD7
(R2495S)
Single nucleotide variant
(missense variant +1 more)
CHARGE syndrome
+3 more
GBenign/Likely benign
CHD7
(I1080V)
Single nucleotide variant
(missense variant +1 more)
CHARGE syndrome
+2 more
GConflicting classifications of pathogenicity
CHD7
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
CHD7
Single nucleotide variant
(synonymous variant +1 more)
CHARGE syndrome
+2 more
GLikely benign
CHD7
Single nucleotide variant
(intron variant)
not provided
+2 more
GLikely benign
CHD7
Single nucleotide variant
(synonymous variant)
Hypogonadotropic hypogonadism 5 with or without anosmia
+2 more
GLikely benign
CHD7
Single nucleotide variant
(synonymous variant +1 more)
CHARGE syndrome
+2 more
GLikely benign
CHD7
Single nucleotide variant
(synonymous variant)
CHARGE syndrome
+2 more
GLikely benign
CHD7
(R886W)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
CHD7
Single nucleotide variant
(synonymous variant +1 more)
Hypogonadotropic hypogonadism 5 with or without anosmia
+2 more
GLikely benign
CHD7
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GLikely benign
CHD7
Single nucleotide variant
(synonymous variant +1 more)
CHARGE syndrome
+1 more
GLikely benign
CHD7
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GLikely benign
CHD7
Single nucleotide variant
(synonymous variant +1 more)
CHARGE syndrome
+3 more
GLikely benign
CHD7
Single nucleotide variant
(synonymous variant +1 more)
CHARGE syndrome
+1 more
GLikely benign
CHD7
Single nucleotide variant
(synonymous variant +1 more)
CHARGE syndrome
+2 more
GLikely benign
LOC126860403, CHD7
Single nucleotide variant
(synonymous variant)
CHARGE syndrome
+1 more
GLikely benign
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