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Links from Gene

Items: 75

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC442028, TEKT4
(L118S)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LOC442028, TEKT4
(R89S)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LOC442028, TEKT4
(I139N)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LOC442028, TEKT4
(A154T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC442028, TEKT4
(R112C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC442028, TEKT4
(R315Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC442028, TEKT4
(R121Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC442028, TEKT4
(R93H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC442028, TEKT4
(D271E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC442028, TEKT4
(R260H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC442028, TEKT4
(E43K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC442028, TEKT4
(E151K)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LOC442028, TEKT4
(R150H)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LOC442028, TEKT4
(K123E)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LOC442028, TEKT4
(A78V)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LOC442028, TEKT4
(D60N)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LOC442028, TEKT4
(R233H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC442028, TEKT4
(A223V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC442028, TEKT4
(A204V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC442028, TEKT4
(E370D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAHD2A, KCNIP3
+8 more
Copy number gain
not provided
GUncertain significance
LOC442028, TEKT4
(R112H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC442028, TEKT4
(R107H)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
LOC442028, TEKT4
(E43K)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
LOC442028, TEKT4
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
LOC442028, TEKT4
(V160M)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LOC442028, TEKT4
(V88A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC442028, TEKT4
(D213N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC442028, TEKT4
(R113C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC442028, TEKT4
(R180K)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LOC442028, TEKT4
(R19H)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LOC442028, TEKT4
(A209V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC442028, TEKT4
(L155V)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LOC442028, TEKT4
(E110Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LOC442028, TEKT4
(T245N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC442028, TEKT4
(R59C)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LOC442028, TEKT4
(K166E)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LOC442028, TEKT4
(R66W)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LOC442028, TEKT4
(A148T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC442028, TEKT4
(L261V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC442028, TEKT4
(T88M)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LOC442028, TEKT4
(H125N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC442028, TEKT4
(R73H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC442028, TEKT4
(N252S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC442028, TEKT4
(R258H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC442028, TEKT4
(D158E)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LOC442028, TEKT4
(G92D)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LOC442028, TEKT4
(E151D)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LOC442028, TEKT4
(S399N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC442028, TEKT4
(V142M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC442028, TEKT4
(T31N)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LOC442028, TEKT4
(E394K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC442028, TEKT4
(Q70H)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LOC442028, TEKT4
(R157C)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LOC442028, TEKT4
(R36H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC442028, TEKT4
(R172Q)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
LOC442028, TEKT4
(C175Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC442028, TEKT4
(R315W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTR1B, ADRA2B
+54 more
Copy number gain
not provided
GLikely pathogenic
ACTG2, ACTR1B
+529 more
Copy number loss
See cases
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
ANKRD36C, FAHD2A
+10 more
Copy number loss
not specified
GUncertain significance
FAHD2A, KCNIP3
+7 more
Copy number gain
not provided
GUncertain significance
FAHD2A, KCNIP3
+7 more
Copy number gain
not provided
GUncertain significance
ANKRD36C, FAHD2A
+10 more
Copy number loss
not provided
GUncertain significance
ACMSD, C2orf27A
+486 more
Deletion
not provided
GLikely pathogenic
ACTR1B, ADRA2B
+86 more
Copy number gain
See cases
GUncertain significance
RGPD4, RGPD5
+1214 more
Copy number gain
See cases
GPathogenic
IL1F10, IL1R1
+1214 more
Copy number gain
See cases
GPathogenic
ACTR1B, ADRA2B
+88 more
Copy number gain
See cases
GPathogenic
TEKT4, ZNF2
+5 more
Copy number gain
Premature ovarian failure
GUncertain significance
ACTR1B, ADRA2B
+550 more
Copy number gain
See cases
GPathogenic
FAHD2A, FAM95A
+26 more
Copy number gain
See cases
GLikely benign
LOC129934355, LOC129934356
+348 more
Copy number gain
See cases
GPathogenic
ACTR1B, ADRA2B
+331 more
Copy number gain
See cases
GPathogenic
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