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Links from MedGen

Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PADI6
(R619fs)
Duplication
(frameshift variant)
Preimplantation embryonic lethality 2
GUncertain significance
PADI6
(Q589K)
Single nucleotide variant
(missense variant)
Preimplantation embryonic lethality 2
GUncertain significance
PADI6
(C666fs)
Duplication
(frameshift variant)
Preimplantation embryonic lethality 2
GPathogenic
PADI6
(S3fs)
Duplication
(frameshift variant)
Preimplantation embryonic lethality 2
GPathogenic
LOC126805635, PADI6
(I416T)
Single nucleotide variant
(missense variant)
Preimplantation embryonic lethality 2
GLikely pathogenic
PADI6
Single nucleotide variant
(intron variant)
Preimplantation embryonic lethality 2
GUncertain significance
PADI6
(S336R)
Single nucleotide variant
(missense variant)
Preimplantation embryonic lethality 2
GUncertain significance
PADI6
(L237fs)
Duplication
(frameshift variant)
Preimplantation embryonic lethality 2
GPathogenic
PADI6
(E586K)
Single nucleotide variant
(missense variant)
Preimplantation embryonic lethality 2
GUncertain significance
PADI6
(P632T)
Single nucleotide variant
(missense variant)
Preimplantation embryonic lethality 2
GLikely pathogenic
LOC126805635, PADI6
(P433L)
Single nucleotide variant
(missense variant)
Preimplantation embryonic lethality 2
GLikely pathogenic
PADI6
(D349fs)
Duplication
(frameshift variant)
Preimplantation embryonic lethality 2
GPathogenic
LOC126805634, PADI6
(T187fs)
Duplication
(frameshift variant)
Preimplantation embryonic lethality 2
GPathogenic
PADI6
(R352C)
Single nucleotide variant
(missense variant)
Preimplantation embryonic lethality 2
GLikely pathogenic
PADI6, LOC126805634
(A220E)
Single nucleotide variant
(missense variant)
Preimplantation embryonic lethality 2
GLikely pathogenic
PADI6
(G540R)
Single nucleotide variant
(missense variant)
Preimplantation embryonic lethality 2
GLikely pathogenic
PADI6
(Q324*)
Single nucleotide variant
(nonsense)
Preimplantation embryonic lethality 2
GPathogenic
LOC126805634, PADI6
(H211Q)
Single nucleotide variant
(missense variant)
Preimplantation embryonic lethality 2
GPathogenic
PADI6
(E670fs)
Microsatellite
(frameshift variant)
Preimplantation embryonic lethality 2
GPathogenic
LOC126805635, PADI6
(Q381*)
Single nucleotide variant
(nonsense)
Preimplantation embryonic lethality 2
GPathogenic
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