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Items: 53

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129997469, LOC129997470
+1002 more
Copy number gain
See cases
GPathogenic
ACAT2, ADAT2
+865 more
Copy number gain
See cases
GPathogenic
ACAT2, AFDN
+571 more
Copy number gain
See cases
GPathogenic
LOC129997593, LOC129997594
+563 more
Copy number loss
See cases
GPathogenic
LOC129997707, LOC129997708
+548 more
Copy number loss
See cases
GPathogenic
LOC126859906, LOC126859907
+539 more
Copy number loss
See cases
GPathogenic
LOC126859863, LOC126859864
+270 more
Copy number loss
See cases
GPathogenic
LOC129997603, LOC129997604
+115 more
Copy number gain
See cases
GUncertain significance
ACAT2, AFDN
+339 more
Copy number loss
See cases
GPathogenic
PNLDC1
(T4S)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
PNLDC1
(P30S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PNLDC1
(L35fs +1 more)
Duplication
(frameshift variant)
Spermatogenic failure 57
GPathogenic
PNLDC1
(L35fs +3 more)
Duplication
(frameshift variant +1 more)
Male infertility with azoospermia or oligozoospermia due to single gene mutation
GPathogenic
PNLDC1
(R47G +1 more)
Single nucleotide variant
(missense variant)
Spermatogenic failure 57
GPathogenic
PNLDC1
(I66T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PNLDC1
(P84S +1 more)
Single nucleotide variant
(missense variant)
Male infertility with azoospermia or oligozoospermia due to single gene mutation
GPathogenic
PNLDC1
(T97M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PNLDC1
(N123S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PNLDC1
(N123K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PNLDC1
(E162Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PNLDC1
(A164T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PNLDC1
Single nucleotide variant
(splice acceptor variant)
Male infertility with azoospermia or oligozoospermia due to single gene mutation
GPathogenic
PNLDC1
(V214L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PNLDC1
(R234Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PNLDC1
(G237D +1 more)
Single nucleotide variant
(missense variant)
Oligospermia
+1 more
GLikely pathogenic
PNLDC1
(M259T +1 more)
Single nucleotide variant
(missense variant)
Spermatogenic failure 57
GPathogenic
PNLDC1
(N282K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PNLDC1
(I283F +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PNLDC1
(D292V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PNLDC1
(A336V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PNLDC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PNLDC1
(K346fs +1 more)
Indel
(frameshift variant)
not provided
Gnot provided
PNLDC1
(K357T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PNLDC1
(A352T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PNLDC1
(P380L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PNLDC1
(E381K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PNLDC1
Single nucleotide variant
(splice donor variant)
Spermatogenic failure 57
GLikely pathogenic
PNLDC1
(R452* +1 more)
Single nucleotide variant
(nonsense)
Male infertility with azoospermia or oligozoospermia due to single gene mutation
GPathogenic
PNLDC1
(R476W +1 more)
Single nucleotide variant
(missense variant)
Non-obstructive azoospermia
GUncertain significance
PNLDC1
(C513S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
THBS2, TMEM181
+54 more
Copy number gain
not provided
GUncertain significance
ACAT2, AGPAT4
+26 more
Deletion
not provided
GPathogenic
MAS1, MRPL18
+33 more
Copy number loss
See cases
GPathogenic
ACAT2, AFDN
+55 more
Copy number loss
Hydrocephalus
GPathogenic
ACAT2, AGPAT4
+44 more
Copy number loss
not specified
GPathogenic
PNLDC1, ACAT2
+6 more
Copy number gain
not provided
GUncertain significance
ACAT2, AIRN
+27 more
Copy number gain
not provided
GUncertain significance
ACAT2, MRPL18
+4 more
Copy number loss
not provided
GUncertain significance
ACAT2, AFDN
+49 more
Copy number gain
not provided
GPathogenic
FNDC1, FRMD1
+86 more
Complex
Coffin-Siris syndrome 1
GPathogenic
AIRN, BNIP5
+1028 more
Copy number gain
See cases
GPathogenic
PDE10A, PDE7B
+1028 more
Copy number gain
See cases
GPathogenic
ACAT2, AFDN
+87 more
Copy number gain
See cases
GPathogenic
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