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Items: 1 to 100 of 2616

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AAMP, ABCA12
+1703 more
Copy number gain
See cases
GPathogenic
ABCA12, ABCB6
+1687 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+1665 more
Copy number gain
See cases
GPathogenic
LOC126806461, LOC126806467
+1299 more
Copy number gain
See cases
GPathogenic
OR6B3, OTOS
+1148 more
Copy number gain
See cases
GPathogenic
AAMP, ABCB6
+986 more
Copy number gain
See cases
GPathogenic
ACKR3, AGAP1
+393 more
Copy number loss
See cases
GPathogenic
COL4A3, COL4A4
Single nucleotide variant
Benign familial hematuria
+3 more
GUncertain significance
COL4A3
Single nucleotide variant
Alport syndrome
GUncertain significance
COL4A3
Single nucleotide variant
Alport syndrome
GUncertain significance
COL4A3
Single nucleotide variant
(5 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A3, LOC129935730
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
COL4A3, LOC129935730
Single nucleotide variant
(5 prime UTR variant)
Alport syndrome
GUncertain significance
COL4A3, LOC129935730
Single nucleotide variant
(5 prime UTR variant)
not specified
+1 more
GConflicting classifications of pathogenicity
COL4A3, LOC129935730
Single nucleotide variant
(5 prime UTR variant)
Alport syndrome
+2 more
GConflicting classifications of pathogenicity
COL4A3, LOC129935730
(M1V)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
COL4A3, LOC129935730
(M1L)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
COL4A3, LOC129935730
(M1T)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A3, LOC129935730
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL4A3, LOC129935730
(R4Q)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
+3 more
GUncertain significance
COL4A3, LOC129935730
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL4A3, LOC129935730
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL4A3, LOC129935730
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL4A3, LOC129935730
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL4A3, LOC129935730
(A6S)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
COL4A3, LOC129935730
(A6D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL4A3, LOC129935730
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL4A3, LOC129935730
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL4A3, LOC129935730
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GLikely benign
COL4A3, LOC129935730
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL4A3, LOC129935730
(P9S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
COL4A3, LOC129935730
(P9L)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
COL4A3, LOC129935730
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL4A3, LOC129935730
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL4A3, LOC129935730
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129935730, COL4A3
(Q10*)
Single nucleotide variant
(nonsense)
Autosomal recessive Alport syndrome
+1 more
GPathogenic
COL4A3, LOC129935730
(Q10R)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
COL4A3, LOC129935730
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL4A3, LOC129935730
Deletion
(inframe_deletion)
COL4A3-related condition
+4 more
GPathogenic
COL4A3, LOC129935730
(L12fs)
Deletion
(frameshift variant)
not provided
GPathogenic
COL4A3, LOC129935730
Deletion
(inframe_indel +1 more)
Autosomal dominant Alport syndrome
+5 more
GLikely benign
COL4A3, LOC129935730
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL4A3, LOC129935730
Single nucleotide variant
(synonymous variant)
Alport syndrome
+1 more
GConflicting classifications of pathogenicity
COL4A3, LOC129935730
Duplication
(inframe_insertion)
Autosomal recessive Alport syndrome
GUncertain significance
COL4A3, LOC129935730
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL4A3, LOC129935730
(P15R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
COL4A3, LOC129935730
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL4A3, LOC129935730
Single nucleotide variant
(synonymous variant)
Autosomal dominant Alport syndrome
+3 more
GBenign/Likely benign
COL4A3, LOC129935730
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL4A3, LOC129935730
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL4A3, LOC129935730
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL4A3, LOC129935730
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL4A3, LOC129935730
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL4A3, LOC129935730
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL4A3, LOC129935730
(L21Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL4A3, LOC129935730
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL4A3, LOC129935730
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL4A3, LOC129935730
(A23fs)
Deletion
(frameshift variant)
not provided
GPathogenic
COL4A3, LOC129935730
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL4A3, LOC129935730
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL4A3, LOC129935730
(A24G)
Single nucleotide variant
(missense variant)
Kidney disorder
+3 more
GBenign/Likely benign
COL4A3, LOC129935730
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL4A3, LOC129935730
(P25S)
Single nucleotide variant
(missense variant)
Kidney disorder
+2 more
GBenign/Likely benign
COL4A3, LOC129935730
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL4A3, LOC129935730
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL4A3, LOC129935730
(A27D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL4A3, LOC129935730
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL4A3, LOC129935730
(K29R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129935730, COL4A3
(K29M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL4A3, LOC129935730
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
COL4A3, LOC129935730
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
COL4A3, LOC129935730
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
COL4A3, LOC129935730
Single nucleotide variant
(intron variant)
Alport syndrome
+1 more
GConflicting classifications of pathogenicity
COL4A3, LOC129935730
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
COL4A3, LOC129935730
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL4A3, LOC129935730
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL4A3, LOC129935730
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL4A3, LOC129935730
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL4A3, LOC129935730
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL4A3, LOC129935730
Duplication
(intron variant)
not provided
GBenign
COL4A3, LOC129935730
Deletion
(intron variant)
not provided
GBenign
COL4A3, MFF-DT
Deletion
(splice acceptor variant +1 more)
not provided
GLikely pathogenic
COL4A3, MFF-DT
Deletion
(intron variant)
not provided
GLikely benign
COL4A3, MFF-DT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL4A3, MFF-DT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL4A3, MFF-DT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL4A3, MFF-DT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL4A3, MFF-DT
Single nucleotide variant
(intron variant)
Alport syndrome
+3 more
GBenign
MFF-DT, COL4A3
(G30R)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
COL4A3, MFF-DT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL4A3, MFF-DT
(K34fs)
Microsatellite
(frameshift variant)
Autosomal dominant Alport syndrome
+3 more
GPathogenic
COL4A3, MFF-DT
(V32fs)
Microsatellite
(frameshift variant)
Autosomal recessive Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL4A3, MFF-DT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL4A3, MFF-DT
(Q38E)
Single nucleotide variant
(missense variant)
COL4A3-related condition
+3 more
GConflicting classifications of pathogenicity
COL4A3, MFF-DT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MFF-DT, COL4A3
(C41*)
Indel
(nonsense)
Autosomal dominant Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL4A3, MFF-DT
(G43R)
Single nucleotide variant
(missense variant)
not provided
GBenign
COL4A3, MFF-DT
(G43R)
Single nucleotide variant
(missense variant)
Alport syndrome
+4 more
GBenign
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