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Items: 1 to 100 of 103

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTR1B, ADRA2B
+331 more
Copy number gain
See cases
GPathogenic
ACTR1B, ADRA2B
+550 more
Copy number gain
See cases
GPathogenic
LOC129934355, LOC129934356
+348 more
Copy number gain
See cases
GPathogenic
ACTR1B, ADRA2B
+207 more
Copy number gain
See cases
GUncertain significance
ADRA2B, ANKRD23
+126 more
Copy number gain
See cases
GUncertain significance
ANKRD36C, GPAT2
+6 more
Copy number gain
See cases
GBenign
ADRA2B, ANKRD23
+131 more
Copy number gain
See cases
GUncertain significance
ADRA2B, ANKRD23
+127 more
Copy number gain
See cases
GUncertain significance
ADRA2B, ANKRD23
+120 more
Copy number gain
See cases
GUncertain significance
ADRA2B, ANKRD23
+119 more
Copy number gain
See cases
GUncertain significance
ADRA2B, ANKRD23
+119 more
Copy number loss
See cases
GPathogenic
ADRA2B, ANKRD23
+126 more
Copy number loss
See cases
GPathogenic
LOC129934346, LOC129934347
+125 more
Copy number gain
See cases
GUncertain significance
ADRA2B, ANKRD23
+119 more
Copy number gain
See cases
GUncertain significance
GPAT2
Copy number gain
See cases
GBenign
GPAT2
(Q726R +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GPAT2
(Q720P +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GPAT2
(R790Q +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GPAT2
(R725P +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GPAT2
(R719W +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GPAT2
(K719Q +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GPAT2
(T691M +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
GPAT2
(V687G +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GPAT2
(E670Q +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GPAT2
(A746T +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
GPAT2
(R637W +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GPAT2
(E668A +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GPAT2
(A661T +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
GPAT2
(A736T +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
GPAT2
(S730A +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GPAT2
(Y649H +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
GPAT2
(Q712H +4 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
GPAT2
(R715C +3 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
GPAT2
(K628E +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
GPAT2
(L690F +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
GPAT2
(F689L +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
GPAT2
(H617R +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
GPAT2
(R611T +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GPAT2
(Y674C +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GPAT2
(G678S +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GPAT2
(K660N +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GPAT2
(R575* +3 more)
Single nucleotide variant
(nonsense +1 more)
Male infertility
GLikely pathogenic
GPAT2
(A636T +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GPAT2
(R550W +3 more)
Single nucleotide variant
(missense variant +1 more)
Male infertility
GLikely pathogenic
GPAT2
(C621R +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GPAT2
(L527P +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPAT2
(R524H +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPAT2
(P504L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPAT2
(R567Q +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPAT2
(E488K +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPAT2
(S552R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPAT2
(F550S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPAT2
(V549I +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPAT2
(R457C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPAT2
(V445M +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPAT2
(R519W +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPAT2
(R431W +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPAT2
(V495A +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPAT2
(T392M +1 more)
Single nucleotide variant
(missense variant)
Male infertility
GUncertain significance
GPAT2
(S391N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPAT2
(S452T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPAT2
(H378P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPAT2
(V372D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPAT2
Single nucleotide variant
(splice acceptor variant)
Male infertility
GLikely pathogenic
GPAT2
(H306R +1 more)
Single nucleotide variant
(missense variant)
Male infertility
GUncertain significance
GPAT2
(R360C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPAT2
(V161L)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
GPAT2
(R49H)
Single nucleotide variant
(missense variant)
Male infertility
GUncertain significance
GPAT2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
GPAT2
(P45L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPAT2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPAT2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPAT2
(Q12H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADRA2B, ANKRD23
+21 more
Copy number loss
not provided
GUncertain significance
ADRA2B, ASTL
+4 more
Deletion
Pheochromocytoma
GUncertain significance
ACTR1B, ADRA2B
+64 more
Copy number gain
not provided
GLikely pathogenic
ADRA2B, ANKRD23
+20 more
Deletion
not provided
GUncertain significance
ACTR1B, ADRA2B
+54 more
Copy number gain
not provided
GLikely pathogenic
ADRA2B, ANKRD36C
+7 more
Copy number gain
not provided
GUncertain significance
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
ADRA2B, ANKRD23
+21 more
Copy number gain
not provided
GUncertain significance
ADRA2B, ANKRD23
+19 more
Copy number gain
not provided
GUncertain significance
ASTL, CIAO1
+20 more
Copy number loss
not provided
GUncertain significance
ARID5A, ASTL
+22 more
Copy number gain
not provided
GUncertain significance
ANKRD36C, DUSP2
+3 more
Copy number gain
not provided
GLikely benign
GPAT2, TRIM43
+1 more
Copy number gain
not provided
GLikely benign
KCNIP3, PROM2
+5 more
Copy number gain
Autism
+1 more
GUncertain significance
ADRA2B, ANKRD23
+21 more
Copy number loss
not provided
GPathogenic
ASTL, CIAO1
+21 more
Copy number gain
not provided
GUncertain significance
C2orf15, C2orf49
+122 more
Copy number gain
not provided
GPathogenic
ADRA2B, ANKRD23
+22 more
Copy number loss
not provided
GUncertain significance
ANKRD36C, FAHD2A
+10 more
Copy number loss
not provided
GUncertain significance
ACMSD, C2orf27A
+486 more
Deletion
not provided
GLikely pathogenic
ADRA2B, ANKRD23
+21 more
Copy number gain
See cases
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
ADRA2B, ANKRD23
+21 more
Copy number loss
See cases
GUncertain significance
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