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Items: 1 to 100 of 159

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
INPP1, ITGA4
+1097 more
Copy number gain
See cases
GPathogenic
LOC129935343, LOC129935344
+1703 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+1687 more
Copy number gain
See cases
GPathogenic
LOC129935726, LOC129935727
+1665 more
Copy number gain
See cases
GPathogenic
LOC129935713, LOC129935714
+1299 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+1148 more
Copy number gain
See cases
GPathogenic
LOC110120629, LOC110120691
+986 more
Copy number gain
See cases
GPathogenic
ABCB6, ACSL3
+195 more
Copy number loss
See cases
GPathogenic
ACSL3, ACSL3-AS1
+75 more
Copy number loss
See cases
GPathogenic
AP1S3, LOC112840902
+29 more
Copy number loss
See cases
GPathogenic
MRPL44
Single nucleotide variant
(genic upstream transcript variant)
not provided
GBenign
LOC129935703, MRPL44
Single nucleotide variant
(genic upstream transcript variant)
not provided
GBenign
MRPL44
Single nucleotide variant
(genic upstream transcript variant)
not provided
GLikely benign
MRPL44
Single nucleotide variant
(genic upstream transcript variant)
not provided
GBenign
LOC129935704, MRPL44
Single nucleotide variant
(genic upstream transcript variant)
not provided
GBenign
LOC129935704, MRPL44
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129935704, MRPL44
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129935704, MRPL44
(R7G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC129935704, MRPL44
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129935704, MRPL44
(Q10H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC129935704, MRPL44
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
LOC129935704, MRPL44
(G12R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LOC129935704, MRPL44
(H13R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC129935704, MRPL44
(R14C)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
LOC129935704, MRPL44
(L16R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC129935704, MRPL44
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129935704, MRPL44
(A18D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC129935704, MRPL44
(A21V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MRPL44
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MRPL44
(V31E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MRPL44
(F35V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MRPL44
(A37S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MRPL44
(Q42E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MRPL44
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MRPL44
(E44V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MRPL44
(R59C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MRPL44
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MRPL44
Single nucleotide variant
(intron variant)
not specified
GLikely benign
MRPL44
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MRPL44
Single nucleotide variant
(intron variant)
not provided
GBenign
MRPL44
Single nucleotide variant
(intron variant)
not provided
GBenign
MRPL44
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MRPL44
(P64L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MRPL44
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MRPL44
(W66R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MRPL44
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MRPL44
(A70T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MRPL44
(Q73K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MRPL44
Single nucleotide variant
(missense variant)
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
GLikely pathogenic
MRPL44
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MRPL44
(N82D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MRPL44
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MRPL44
(C96Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MRPL44
(Y97C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MRPL44
(I98V)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
MRPL44
(R105C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MRPL44
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MRPL44
(L117del)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
MRPL44
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MRPL44
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MRPL44
(E127K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MRPL44
(E127Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MRPL44
(T135N)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
MRPL44
(L137V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MRPL44
(T138I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
MRPL44
(Q139L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MRPL44
(E144K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MRPL44
(I153L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MRPL44
(N155S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MRPL44
(L156P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MRPL44
(L156R)
Single nucleotide variant
(missense variant)
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
+1 more
GPathogenic/Likely pathogenic
MRPL44
(T161fs)
Indel
(frameshift variant)
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
GPathogenic
MRPL44
(V166M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MRPL44
(H168Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MRPL44
(H168L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MRPL44
(V169L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MRPL44
(A174T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MRPL44
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
MRPL44
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MRPL44
(T194S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MRPL44
(F195S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MRPL44
(L202V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MRPL44
(Q204*)
Single nucleotide variant
(nonsense)
not specified
GUncertain significance
MRPL44
(Q204H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MRPL44
(S206R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MRPL44
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
MRPL44
(R216G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MRPL44
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
MRPL44
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
MRPL44
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MRPL44
Single nucleotide variant
(intron variant)
not specified
+1 more
GLikely benign
MRPL44
Single nucleotide variant
(intron variant)
not provided
GBenign
MRPL44
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MRPL44
Duplication
(intron variant)
not provided
GBenign
MRPL44
Single nucleotide variant
(intron variant)
not provided
GBenign
MRPL44
Deletion
(intron variant)
not provided
GBenign
MRPL44
(T221I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MRPL44
(T224I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MRPL44
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
MRPL44
(G225V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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