ClinVar Miner

List of variants in gene ITPR2 studied 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
		ClinVar version:

Total variants: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002223.4(ITPR2):c.2883C>T (p.His961=)	rs2230372	0.47600
NM_002223.4(ITPR2):c.3801+23G>A	rs12832680	0.40056
NM_002223.4(ITPR2):c.2055A>G (p.Ser685=)	rs2291264	0.33597
NM_002223.4(ITPR2):c.765A>G (p.Glu255=)	rs1900941	0.32884
NM_002223.4(ITPR2):c.4407A>G (p.Lys1469=)	rs2230375	0.26488
NM_002223.4(ITPR2):c.4239C>T (p.Asp1413=)	rs2230377	0.26031
NM_002223.4(ITPR2):c.93-10T>A	rs7314747	0.23365
NM_002223.4(ITPR2):c.6551C>G (p.Thr2184Ser)	rs184496919	0.00083
NM_002223.4(ITPR2):c.3655C>A (p.Leu1219Ile)
NM_002223.4(ITPR2):c.7492G>A (p.Gly2498Ser)	rs786204832

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