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Links from Gene

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP6V1D, GPHN
(R30L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP6V1D, GPHN
(R22H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP6V1D, GPHN
(I205L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP6V1D, GPHN
(R196Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP6V1D, GPHN
(I164V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP6V1D, GPHN
(I162V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP6V1D, GPHN
(A149V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP6V1D, GPHN
(L57M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP6V1D, GPHN
(V142A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP6V1D, GPHN
(Y200F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP6V1D, GPHN
(R30Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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