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Items: 90

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABLIM3, ACSL6
+1672 more
Copy number loss
See cases
GPathogenic
LOC129994992, LOC129994993
+1157 more
Copy number gain
See cases
GPathogenic
ABLIM3, ACSL6
+1218 more
Copy number gain
See cases
GPathogenic
ANKHD1, ANKHD1-DT
+377 more
Copy number loss
See cases
GPathogenic
ARAP3, DELE1
+123 more
Copy number loss
See cases
GUncertain significance
ABLIM3, ADRB2
+313 more
Copy number gain
See cases
GPathogenic
SPRY4
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
SPRY4
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
SPRY4
(P298A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPRY4
(D296N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPRY4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SPRY4
(S293N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPRY4
(G288R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPRY4
(I305T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPRY4
(V304I +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
SPRY4
(T301A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPRY4
(C273W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPRY4
(R290H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPRY4
(R263H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPRY4
(L260M +1 more)
Single nucleotide variant
(missense variant)
Disorder of sexual differentiation
GUncertain significance
SPRY4
(V258M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SPRY4
(V243M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPRY4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SPRY4
(A256T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPRY4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SPRY4
(R228C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPRY4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SPRY4
(A243T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPRY4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SPRY4
(S241Y +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SPRY4
(D215N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPRY4
(C233F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPRY4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SPRY4
(C186Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
SPRY4
(P196H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPRY4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SPRY4
Single nucleotide variant
(synonymous variant)
SPRY4-related condition
GLikely benign
SPRY4
(E160K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPRY4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SPRY4
(K177R +1 more)
Single nucleotide variant
(missense variant)
SPRY4-related condition
+1 more
GConflicting classifications of pathogenicity
SPRY4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SPRY4
(P150H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPRY4
Single nucleotide variant
(synonymous variant)
SPRY4-related condition
GLikely benign
SPRY4
(P146L +1 more)
Single nucleotide variant
(missense variant)
SPRY4-related condition
+1 more
GUncertain significance
SPRY4
(G168D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPRY4
(K134R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPRY4
(R130H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPRY4
(R130C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPRY4
(G117R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPRY4
(S116N +1 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 17 with or without anosmia
GUncertain significance
SPRY4
(S91P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPRY4
(H110N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPRY4
(D105N +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
SPRY4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SPRY4
(A102T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPRY4
Single nucleotide variant
(synonymous variant)
SPRY4-related condition
+1 more
GBenign/Likely benign
SPRY4
(T77M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPRY4
Single nucleotide variant
(synonymous variant)
SPRY4-related condition
GLikely benign
SPRY4
(G69V +1 more)
Single nucleotide variant
(missense variant)
Amenorrhea
GUncertain significance
SPRY4
(R68Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPRY4
(R66W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPRY4
(G86D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPRY4
Single nucleotide variant
(synonymous variant)
SPRY4-related condition
GLikely benign
SPRY4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
SPRY4
(T84I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPRY4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SPRY4
(R30W +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
SPRY4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SPRY4
Single nucleotide variant
(synonymous variant)
SPRY4-related condition
GLikely benign
SPRY4
(V16I +1 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 17 with or without anosmia
GPathogenic
SPRY4
(A9T +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
SPRY4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SPRY4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SPRY4
(V16I)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
SPRY4
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
SPRY4
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
SPRY4
(G8A)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
SPRY4
(L5V)
Single nucleotide variant
(5 prime UTR variant +2 more)
Hypogonadotropic hypogonadism
GUncertain significance
SPRY4
Single nucleotide variant
(5 prime UTR variant +1 more)
SPRY4-related condition
GLikely benign
SPRY4
Single nucleotide variant
(intron variant)
not provided
GBenign
ARHGAP26, DPYSL3
+19 more
Copy number loss
not specified
GPathogenic
ABLIM3, ADRB2
+92 more
Copy number gain
not provided
GUncertain significance
C5orf24, C5orf34
+600 more
Deletion
Neurodevelopmental disorder
GUncertain significance
ARSK, CSNK1G3
+385 more
Deletion
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic
DHFR, DHX29
+738 more
Copy number loss
See cases
GPathogenic
ABLIM3, ADRB2
+48 more
Copy number loss
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
ARL10, ARL14EPL
+511 more
Copy number gain
not provided
GLikely benign
HRH2, HSD17B4
+520 more
Copy number gain
See cases
GPathogenic
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