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Links from Gene

Items: 56

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
STK16
(S32N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
STK16
(M110V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK16
(R215W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
STK16
(R193W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
STK16
(L38P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK16
(W127R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
STK16
(I77V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
STK16
(R64Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AAMP, ABCB6
+218 more
Copy number gain
See cases
GPathogenic
AAMP, ABCB6
+208 more
Copy number gain
not provided
GPathogenic
STK16
(S231L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK16
(R81Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
STK16
(V206L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AAMP, ABCA12
+208 more
Copy number gain
See cases
GPathogenic
STK16
(R79C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
STK16
(H69Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
STK16
(S258G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK16
(G89V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
STK16
(V243M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK16
(L113Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
STK16
(L26R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK16
(G39W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
STK16
(L120P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
STK16
(R79H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
STK16
(M119V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
FBXO36, UGT1A5
+147 more
Copy number loss
not specified
GPathogenic
AAMP, ABCB6
+42 more
Copy number gain
not specified
GUncertain significance
AAMP, ABCA12
+72 more
Copy number gain
not specified
GPathogenic
AAMP, ABCB6
+50 more
Duplication
Alacrima, achalasia, and intellectual disability syndrome
+1 more
GUncertain significance
STK16, TUBA4A
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
PTPRN, RESP18
+36 more
Copy number loss
not provided
GPathogenic
AAMP, ABCA12
+384 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+66 more
Copy number loss
not provided
GLikely pathogenic
CXCR2, FEV
+65 more
Copy number gain
not provided
GPathogenic
ABCB6, ANKZF1
+17 more
Copy number gain
not provided
GUncertain significance
CTDSP1, NGEF
+197 more
Copy number gain
See cases
GPathogenic
ACSL3, ADAM23
+208 more
Duplication
Neurodevelopmental disorder
GPathogenic
CNPPD1, DNAJB2
+39 more
Deletion
Desmin-related myofibrillar myopathy
GPathogenic
ABCB6, ACKR3
+183 more
Copy number gain
not provided
GPathogenic
AAMP, ABCB6
+71 more
Copy number loss
not provided
GPathogenic
PTPRN, STK11IP
+23 more
Deletion
Bilateral cleft lip and palate
+3 more
GPathogenic
IRS1, KCNE4
+77 more
Copy number loss
not provided
GLikely pathogenic
RGPD4, RGPD5
+1214 more
Copy number gain
See cases
GPathogenic
IL1F10, IL1R1
+1214 more
Copy number gain
See cases
GPathogenic
ABCB6, ANKZF1
+32 more
Copy number gain
See cases
GUncertain significance
AAMP, ABCA12
+225 more
Copy number gain
See cases
GPathogenic
LOC110120629, LOC110120691
+986 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+1687 more
Copy number gain
See cases
GPathogenic
INPP1, ITGA4
+1097 more
Copy number gain
See cases
GPathogenic
ABCB6, ANKZF1
+77 more
Copy number gain
See cases
GUncertain significance
AAMP, ABCA12
+1148 more
Copy number gain
See cases
GPathogenic
LOC129935726, LOC129935727
+1665 more
Copy number gain
See cases
GPathogenic
LOC129935343, LOC129935344
+1703 more
Copy number gain
See cases
GPathogenic
ABCB6, ACSL3
+195 more
Copy number loss
See cases
GPathogenic
LOC129935713, LOC129935714
+1299 more
Copy number gain
See cases
GPathogenic
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