ClinVar Miner

List of variants in gene KCTD1 reported as pathogenic for dermis disorder

Included ClinVar conditions (24):

Amyloidosis, primary localized cutaneous, 1
Amyloidosis, primary localized cutaneous, 2
Amyloidosis, primary localized cutaneous, 3
Aplasia cutis congenita
Aplasia cutis congenita; Small nail; Hypermelanotic macule; Hypoplastic toenails; Pterygium of nails; Hyperpigmented/hypopigmented macules; Punctate palmoplantar hyperkeratosis; Aplasia/Hypoplasia of the nails; Aplastic/hypoplastic toenail; Mild global developmental delay
Cushing syndrome; McCune-Albright syndrome; Pseudohypoparathyroidism; Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 1B; Pseudopseudohypoparathyroidism; Progressive osseous heteroplasia; Pituitary adenoma 3, multiple types
Cushing syndrome; McCune-Albright syndrome; Pseudohypoparathyroidism; Pseudohypoparathyroidism type 1C; Somatotroph adenoma; Pseudohypoparathyroidism type 1B; Pseudopseudohypoparathyroidism; Progressive osseous heteroplasia
Cutaneous mastocytosis
Gastrointestinal stromal tumor; Piebaldism; Acute myeloid leukemia; Cutaneous mastocytosis; Germ cell tumor of testis
Gastrointestinal stromal tumor; Piebaldism; Cutaneous mastocytosis
Hyaline fibromatosis syndrome
Isolated anhidrosis with normal sweat glands
Linear skin defects with multiple congenital anomalies 1
Linear skin defects with multiple congenital anomalies 1; Linear skin defects with multiple congenital anomalies 3; Mitochondrial complex I deficiency, nuclear type 1
Linear skin defects with multiple congenital anomalies 2
Linear skin defects with multiple congenital anomalies 3
Lipid proteinosis
MASTOCYTOSIS, SYSTEMIC, SOMATIC
McCune-Albright syndrome; Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 1B; Pseudopseudohypoparathyroidism; Progressive osseous heteroplasia; Pituitary adenoma 3, multiple types; ACTH-independent macronodular adrenal hyperplasia 1; Pseudohypoparathyroidism type I A
Progressive osseous heteroplasia
Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 1B; Progressive osseous heteroplasia; Pseudohypoparathyroidism type I A
Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 1B; Pseudopseudohypoparathyroidism; Progressive osseous heteroplasia; Pseudohypoparathyroidism type I A
Scalp-ear-nipple syndrome
Uterine leiomyoma; Cutaneous leiomyoma

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_001142730.3(KCTD1):c.1882C>T (p.Pro628Ser)	rs878853125
NM_001142730.3(KCTD1):c.1913C>A (p.Ala638Glu)	rs587776998
NM_001142730.3(KCTD1):c.1916C>A (p.Pro639His)	rs587776999
NM_001142730.3(KCTD1):c.1916C>G (p.Pro639Arg)	rs587776999
NM_001142730.3(KCTD1):c.1916C>T (p.Pro639Leu)	rs587776999
NM_001142730.3(KCTD1):c.1922A>C (p.His641Pro)	rs587777001
NM_001142730.3(KCTD1):c.1923C>A (p.His641Gln)	rs587777000
NM_001142730.3(KCTD1):c.2009G>A (p.Gly670Asp)	rs587777003
NM_001142730.3(KCTD1):c.2031C>A (p.Asp677Glu)	rs878853124
NM_001142730.3(KCTD1):c.2045A>C (p.His682Pro)	rs587777002

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