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Links from Gene

Items: 74

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HMMR
(Q106E +3 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
GUncertain significance
HMMR
(N225S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMMR
(M169V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMMR
(A371V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMMR
(S347P +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMMR
(E188K +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMMR
(Q244E +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMMR
(V31L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HMMR
(E238K +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMMR
(M178V +3 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
HMMR
(R89Q +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMMR, HMMR-AS1
(Y610C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMMR
(D59V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HMMR, HMMR-AS1
(L458F +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
HMMR, HMMR-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
HMMR, HMMR-AS1
(K663T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMMR
(E454K +3 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
GUncertain significance
HMMR
(K83T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HMMR, HMMR-AS1
(D560N +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMMR
(L29S)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
HMMR, HMMR-AS1
(R494H +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMMR
(R12H +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMMR
(M105T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMMR
(Q206R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMMR
(R317C +3 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
HMMR
(S268L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMMR
(L135P +3 more)
Single nucleotide variant
(missense variant)
Ovarian cancer
+1 more
GConflicting classifications of pathogenicity
HMMR, HMMR-AS1
(D600Y +3 more)
Single nucleotide variant
(missense variant)
Ovarian cancer
GLikely pathogenic
HMMR
(V56D)
Single nucleotide variant
(missense variant +1 more)
Ovarian cancer
GBenign
HMMR, HMMR-AS1
(A477T +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Ovarian cancer
GBenign
HMMR, HMMR-AS1
Single nucleotide variant
(intron variant)
Familial cancer of breast
GUncertain significance
HMMR, HMMR-AS1
(A527T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMMR, HMMR-AS1
(E467G +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
HMMR, HMMR-AS1
(K671E +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMMR, HMMR-AS1
(A398T +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
HMMR
(T120A +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMMR, HMMR-AS1
(N698S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMMR, HMMR-AS1
(E601D +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMMR, HMMR-AS1
(E462V +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
HMMR, HMMR-AS1
(I561M +3 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
HMMR
(E118K +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMMR, HMMR-AS1
(V569L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMMR
(Q47L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HMMR, HMMR-AS1
(A691P +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMMR
(M281I +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMMR
(K445N +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HMMR
(H217R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GABRA6, GABRB2
+29 more
Copy number loss
not provided
GLikely pathogenic
ADAM19, ADRA1B
+98 more
Copy number gain
not provided
GPathogenic
HMMR
(Q170* +3 more)
Single nucleotide variant
(nonsense)
Familial cancer of breast
GUncertain significance
ADRA1B, ATP10B
+111 more
Duplication
not specified
GUncertain significance
ADAM19, ADAMTS2
+222 more
Copy number gain
Hunter-McAlpine craniosynostosis
GPathogenic
HMMR, HMMR-AS1
(V556A +3 more)
Single nucleotide variant
(missense variant)
Breast cancer, susceptibility to
GUncertain significance
HMMR
(E289D +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMMR
Single nucleotide variant
(splice donor variant)
Familial cancer of breast
GUncertain significance
CCNG1, HMMR
+2 more
Copy number gain
See cases
GUncertain significance
ADAM19, ADRA1B
+51 more
Copy number loss
not provided
GPathogenic
HMMR, HMMR-AS1
(D471H +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
HMMR, HMMR-AS1
(Q547R +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
CCNG1, HMMR
+2 more
Copy number loss
not provided
GUncertain significance
C5orf52, ADAM19
+51 more
Copy number gain
not provided
GPathogenic
HMMR, MAT2B
+2 more
Copy number gain
not provided
GUncertain significance
DHFR, DHX29
+738 more
Copy number loss
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
ARL10, ARL14EPL
+511 more
Copy number gain
not provided
GLikely benign
HRH2, HSD17B4
+520 more
Copy number gain
See cases
GPathogenic
ADAM19, ADRA1B
+50 more
Copy number loss
See cases
GPathogenic
GABRA1, GABRA6
+108 more
Copy number loss
See cases
GPathogenic
ADAM19, ADRA1B
+295 more
Copy number loss
See cases
GPathogenic
LOC129995440, LOC129995441
+864 more
Copy number gain
See cases
GPathogenic
CCNG1, GABRG2
+17 more
Copy number loss
See cases
GPathogenic
ADAM19, ADRA1B
+280 more
Copy number loss
See cases
GPathogenic
LOC132089226, LOC132089227
+1167 more
Copy number gain
See cases
GPathogenic
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