"Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic"[submitt - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 304051	NM_000207.3(INS):c.*22A>C	INS, INS-IGF2 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Maturity onset diabetes mellitus in young +8 more	GConflicting classifications of pathogenicity
Select item 255531	NM_000207.3(INS):c.*9C>T	INS, INS-IGF2 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive DOPA responsive dystonia +5 more	GBenign/Likely benign
Select item 255532	NM_000207.3(INS):c.187+11T>C	INS, INS-IGF2 +1 more	Single nucleotide variant (intron variant)	not specified +8 more	GBenign/Likely benign
Select item 304057	NM_000207.3(INS):c.36G>A (p.Ala12=)	INS-IGF2, TH +1 more	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive DOPA responsive dystonia +7 more	GBenign/Likely benign
Select item 36399	NM_000207.3(INS):c.-9C>T	INS, INS-IGF2 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +7 more	GBenign/Likely benign
Select item 304060	NM_000207.3(INS):c.-18+4_-18+5insTTGC	INS, INS-IGF2 +1 more	Insertion (5 prime UTR variant +1 more)	Maturity onset diabetes mellitus in young +4 more	GConflicting classifications of pathogenicity
Select item 304062	NM_000360.4(TH):c.*277G>A	INS, TH	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +4 more	GConflicting classifications of pathogenicity
Select item 304069	NM_000360.4(TH):c.1278G>A (p.Thr426=)	INS, TH	Single nucleotide variant (synonymous variant)	Transient Neonatal Diabetes, Dominant/Recessive +4 more	GBenign/Likely benign
Select item 263251	NM_000360.4(TH):c.1200+9C>T	INS, TH	Single nucleotide variant (intron variant)	Generalized dystonia +4 more	GConflicting classifications of pathogenicity