U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 365

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126860438, LOC126860439
+3663 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3663 more
Copy number gain
See cases
GPathogenic
LOC130000099, LOC130000100
+1040 more
Copy number gain
See cases
GPathogenic
LOC130000032, LOC130000033
+1105 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
LOC105379224, LOC105379230
+3657 more
Copy number gain
See cases
GPathogenic
LOC129999950, LOC129999951
+996 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
DPYSL2, DUSP26
+1020 more
Copy number gain
See cases
GPathogenic
LOC126860319, LOC126860320
+696 more
Copy number gain
See cases
GPathogenic
LOC130000106, LOC130000107
+937 more
Copy number gain
See cases
GPathogenic
LOC130000241, LOC130000242
+934 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+665 more
Copy number gain
See cases
GPathogenic
LOC129999967, LOC129999968
+870 more
Copy number gain
See cases
GPathogenic
KAT6A-AS1, KCNU1
+929 more
Copy number gain
See cases
GPathogenic
LOC130000074, LOC130000075
+929 more
Copy number gain
See cases
GPathogenic
TNFRSF10A, TNFRSF10A-DT
+705 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+870 more
Copy number gain
See cases
GPathogenic
LOC124153144, LOC124153145
+818 more
Copy number gain
See cases
GPathogenic
LOC113788268, LOC113788269
+929 more
Copy number gain
See cases
GPathogenic
LOC128772328, LOC129389957
+653 more
Copy number gain
See cases
GPathogenic
LOC130000303, LOC130000304
+922 more
Copy number gain
See cases
GPathogenic
LOC113788272, LOC113788273
+807 more
Copy number gain
See cases
GPathogenic
LOC130000012, LOC130000013
+857 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+922 more
Copy number gain
See cases
GPathogenic
LOC130000050, LOC130000051
+791 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+922 more
Copy number gain
See cases
GPathogenic
LOC130000309, LOC130000310
+900 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+532 more
Copy number loss
See cases
GPathogenic
LOC129999966, LOC129999967
+3111 more
Copy number gain
See cases
GPathogenic
ADRA1A, BNIP3L
+259 more
Copy number loss
See cases
GPathogenic
ADRA1A, BNIP3L
+259 more
Copy number loss
See cases
GPathogenic
LOC124153126, LOC124153127
+257 more
Copy number loss
See cases
GPathogenic
LOC130000135, LOC130000136
+593 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+288 more
Copy number loss
See cases
GPathogenic
ADAM18, ADAM2
+419 more
Copy number gain
See cases
GPathogenic
DUSP26, FUT10
+85 more
Copy number gain
See cases
GUncertain significance
TEX15
(W3158*)
Single nucleotide variant
(nonsense)
not provided
GConflicting classifications of pathogenicity
TEX15
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
TEX15
(R3150*)
Single nucleotide variant
(nonsense)
Non-obstructive azoospermia
GUncertain significance
TEX15
(Y2763H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX15
(A2759G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX15
(S3123F)
Single nucleotide variant
(missense variant)
not provided
GBenign
TEX15
(Q3119H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX15
(Q3119L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX15
(N2730S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX15
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TEX15
(G3108V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX15
(T3098I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX15
(L2709R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX15
(T3087I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX15
(G3086R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX15
(G3075R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TEX15
(G3075R +1 more)
Single nucleotide variant
(missense variant)
Non-obstructive azoospermia
GUncertain significance
TEX15
(T3065A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX15
(Y2678C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX15
(Q3048H +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
TEX15
(S3042C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX15
(P3040L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX15
(C3024F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX15
(L2636F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX15
(M2626V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX15
(H2976R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX15
(V2975E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX15
(T2957P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX15
(P2956S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX15
(L2571V +1 more)
Single nucleotide variant
(missense variant)
TEX15-related disorder
GBenign
TEX15
(I2946M)
Single nucleotide variant
(missense variant)
Spermatogenic failure 25
+1 more
GConflicting classifications of pathogenicity
TEX15
(I2559F +1 more)
Single nucleotide variant
(missense variant)
Myoepithelial tumor
GUncertain significance
TEX15
(P2556S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX15
(S2936F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX15
(S2553P +1 more)
Single nucleotide variant
(missense variant)
Spermatogenic failure 25
GUncertain significance
TEX15
(S2932L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX15
(L2918R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX15
(V2522I +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
TEX15
(P2897S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX15
(N2497Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX15
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
TEX15
(K2482E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX15
(H2473R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX15
(D2472E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX15
(A2841V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX15
(K2451R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX15
(D2450G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX15
(H2807R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX15
(S2805F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX15
(S2412L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX15
Single nucleotide variant
(synonymous variant)
EBV-positive nodal T- and NK-cell lymphoma
GLikely benign
TEX15
(C2791fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
TEX15
Single nucleotide variant
(synonymous variant)
TEX15-related disorder
GLikely benign
TEX15
(M2773I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX15
(P2385R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX15
(N2764D +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
TEX15
Single nucleotide variant
(intron variant)
TEX15-related disorder
GBenign
TEX15
(P2740S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX15
(E2733fs)
Microsatellite
(frameshift variant)
Non-obstructive azoospermia
GPathogenic
TEX15
Single nucleotide variant
(intron variant)
Spermatogenic failure 25
GUncertain significance
TEX15
(S2332A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX15
(Q2326K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEX15
(R2695*)
Single nucleotide variant
(nonsense)
Spermatogenic failure 25
GPathogenic
Format
Items per page
Sort by
Choose Destination