ClinVar Miner

List of variants in gene combination KLLN, PTEN reported as uncertain significance for PTEN hamartoma tumor syndrome

Included ClinVar conditions (14):

Autism; Bannayan-Riley-Ruvalcaba syndrome; PTEN hamartoma tumor syndrome; Macrocephaly
Bannayan-Riley-Ruvalcaba syndrome
Bannayan-Riley-Ruvalcaba syndrome; PTEN hamartoma tumor syndrome; Cowden syndrome
Bannayan-Riley-Ruvalcaba syndrome; PTEN hamartoma tumor syndrome; Cowden syndrome 1
Endometrial carcinoma; Macrocephaly-autism syndrome; Familial meningioma; Squamous cell carcinoma of the head and neck; Bannayan-Riley-Ruvalcaba syndrome; Malignant tumor of prostate; Thyroid cancer, nonmedullary, 2; VACTERL with hydrocephalus; Glioma susceptibility 2; Cowden syndrome 1; Melanoma, cutaneous malignant, susceptibility to, 1
Familial cancer of breast; Proteus syndrome; Neoplasm of ovary; Cowden syndrome 6; Colorectal cancer
Macrocephaly-autism syndrome; Bannayan-Riley-Ruvalcaba syndrome; Cowden syndrome 1
Macrocephaly-autism syndrome; Bannayan-Riley-Ruvalcaba syndrome; PTEN hamartoma tumor syndrome
Macrocephaly-autism syndrome; Bannayan-Riley-Ruvalcaba syndrome; PTEN hamartoma tumor syndrome; Cowden syndrome
Macrocephaly-autism syndrome; Bannayan-Riley-Ruvalcaba syndrome; Proteus-like syndrome; PTEN hamartoma tumor syndrome; Cowden syndrome
Macrocephaly-autism syndrome; Familial meningioma; Malignant tumor of prostate; VACTERL with hydrocephalus; Glioma susceptibility 2; PTEN hamartoma tumor syndrome; Cowden syndrome 1
PTEN hamartoma tumor syndrome
Proteus syndrome
Proteus-like syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001126049.2(KLLN):c.-792C>T	rs587779982	0.00044
NM_000314.4(PTEN):c.-1242G>A	rs587779985	0.00018
NC_000010.10:g.(?_89621800)_(89624340_?)dup
NC_000010.10:g.(?_89621946)_(89623527_?)dup
NC_000010.10:g.(?_89622083)_(89623527_?)dup
NC_000010.10:g.(?_89622928)_(89725239_?)dup
NC_000010.11:g.(?_87862043)_(87863770_?)dup
NC_000010.11:g.(?_87863171)_(87863770_?)del
NC_000010.11:g.(?_87863171)_(87864558_?)dup
NM_001126049.2(KLLN):c.-736G>C	rs1554889801
NM_001126049.2(KLLN):c.-794_-783del	rs587781340
NM_001126049.2(KLLN):c.-812G>T	rs587779981
NM_001126049.2(KLLN):c.-828C>T	rs786203674

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