Clinical Genomics (Uppaluri K&H Personalized Medicine Clinic), K&H CLINIC

Summary of submissions to ClinVar

Total submissions: 3064

Gene

GeneSubmissionsLast Updated
ABCC8943May 29, 2024
ACADS1Mar 2, 2024
AGPAT25Mar 2, 2024
AKT23Mar 2, 2024
ALMS151May 1, 2024
AVP3Mar 2, 2024
BAIAP24May 24, 2023
BLK24Dec 6, 2022
BSCL27Mar 2, 2024
C12orf4330Nov 18, 2022
CARD148Feb 21, 2024
CEL1Apr 29, 2022
DCAF1712Nov 21, 2022
DRD411May 24, 2023
DRD52May 24, 2023
ENPP13Apr 29, 2022
FOXP37Nov 21, 2022
GATA42Nov 21, 2022
GATA66Mar 2, 2024
GCK280Feb 21, 2024
GLIS318Jun 10, 2023
GLIS3-AS12Jun 10, 2023
HADH78May 1, 2024
HNF1A273Feb 27, 2024
HNF1B166Mar 2, 2024
HNF4A231Mar 8, 2023
HNRNPUL2-BSCL27Mar 2, 2024
IL36RN6Sep 8, 2023
INS72Dec 23, 2023
INS-IGF265Dec 23, 2023
INSR26Mar 2, 2024
KCNJ11213Mar 2, 2024
KLF111May 30, 2022
LMNA16Feb 21, 2024
LOC11012147122Sep 23, 2022
LOC1268058771Jun 10, 2023
LOC1268062523May 1, 2024
LOC1268603032Nov 22, 2022
LOC12686254915Mar 2, 2024
LOC1268626622Feb 21, 2024
LOC1299363995Apr 24, 2024
LOC12999216610Dec 5, 2022
LOC12999293110Apr 13, 2023
NEUROD11Apr 29, 2022
PAX43May 6, 2022
PAX61Apr 29, 2022
PCSK91Mar 16, 2022
PDX111Nov 21, 2022
PLUT1Nov 21, 2022
PTF1A2May 5, 2023
R3HDML-AS14Feb 24, 2023
SGSH5Feb 21, 2024
SLC29A31Apr 12, 2022
SLC2A23Apr 29, 2022
SLC2A92May 24, 2023
TGFBR2101Apr 24, 2024
TH9Dec 23, 2023
TP531Aug 30, 2022
WFS1470May 1, 2024
ZFP572Apr 13, 2023

Condition

NameSubmissionsLast Updated
Abnormality of refraction1Apr 29, 2022
Acanthosis nigricans1Apr 12, 2022
Acrodermatitis continua suppurativa of Hallopeau6Sep 8, 2023
Alstrom syndrome51May 1, 2024
Attention deficit hyperactivity disorder4May 24, 2023
Cerebral edema1Apr 30, 2022
Congenital generalized lipodystrophy type 15Mar 2, 2024
Congenital generalized lipodystrophy type 27Mar 2, 2024
Deficiency of butyryl-CoA dehydrogenase1Mar 2, 2024
Diabetes mellitus6Nov 17, 2022
Diabetes mellitus type 13Dec 4, 2023
Diabetes mellitus, permanent neonatal 421Dec 23, 2023
Diabetes mellitus, transient neonatal, 23May 11, 2024
Diabetic retinopathy101Apr 24, 2024
Dilated cardiomyopathy 1A8Feb 21, 2024
Familial hypercholesterolemia1Mar 16, 2022
Gastric cancer1Aug 30, 2022
Generalized dystonia1Jun 1, 2022
Gestational diabetes1Apr 12, 2022
Glibenclamide response1May 24, 2022
Glycosuria1Apr 29, 2022
Hereditary attention deficit-hyperactivity disorder13May 24, 2023
Hyperinsulinemia11May 16, 2022
Hyperinsulinemic hypoglycemia70May 1, 2024
Hyperinsulinemic hypoglycemia, familial, 17May 27, 2024
Hyperinsulinemic hypoglycemia, familial, 48Feb 27, 2024
Hyperinsulinism due to INSR deficiency25Mar 2, 2024
Hyperproinsulinemia3Dec 23, 2023
Hypoglycemia2May 16, 2022
Hypoinsulinemia2Apr 29, 2022
Insulin-dependent diabetes mellitus secretory diarrhea syndrome7Nov 21, 2022
Insulin-resistant diabetes mellitus1Apr 29, 2022
Maturity onset diabetes mellitus in young1559May 29, 2024
Maturity-onset diabetes of the young type 107Dec 23, 2023
Maturity-onset diabetes of the young type 133Mar 2, 2024
Maturity-onset diabetes of the young type 21Feb 21, 2024
Maturity-onset diabetes of the young type 32Feb 27, 2024
Neonatal diabetes mellitus18May 27, 2024
Neonatal diabetes mellitus with congenital hypothyroidism5Jun 10, 2023
Neonatal hypoglycemia7Apr 30, 2022
Neonatal insulin-dependent diabetes mellitus36Nov 22, 2022
Neurohypophyseal diabetes insipidus3Mar 2, 2024
Pancreatic beta cell agenesis with neonatal diabetes mellitus1May 5, 2023
Pancreatic hypoplasia11Nov 21, 2022
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome4Mar 2, 2024
Pityriasis rubra pilaris8Feb 21, 2024
Primary dilated cardiomyopathy7Jun 2, 2023
Schizophrenia1May 24, 2023
Sensorineural hearing loss disorder1Oct 7, 2022
Systemic lupus erythematosus24Dec 6, 2022
Transitory neonatal diabetes mellitus467Apr 13, 2023
Type 1 diabetes mellitus 21Dec 4, 2023
Type 2 diabetes mellitus47Mar 2, 2024
Wolfram syndrome 1465May 1, 2024
Woodhouse-Sakati syndrome12Nov 21, 2022
sulfonylureas response1May 24, 2022