ClinVar for MedGen (Select 6979) - ClinVar - NCBI

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

Links from MedGen

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1683776	NM_000260.4(MYO7A):c.3833C>T (p.Thr1278Ile)	MYO7A (T1267I +1 more)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder +4 more	GUncertain significance
Select item 804425	NM_003803.4(MYOM1):c.3260G>A (p.Trp1087Ter)	MYOM1 (W991* +1 more)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 638278	NM_001042424.3(NSD2):c.3295G>A (p.Glu1099Lys)	NSD2 (E1099K)	Single nucleotide variant (missense variant)	Anemia +14 more	GConflicting classifications of pathogenicity
Select item 556175	NM_000525.4(KCNJ11):c.617G>T (p.Arg206Leu)	KCNJ11 (R206L +1 more)	Single nucleotide variant (missense variant)	Permanent neonatal diabetes mellitus +3 more	GConflicting classifications of pathogenicity
Select item 552226	NM_000352.6(ABCC8):c.3753+1G>A	ABCC8	Single nucleotide variant (splice donor variant)	Maturity onset diabetes mellitus in young +3 more	GConflicting classifications of pathogenicity
Select item 523361	NM_000352.6(ABCC8):c.1793G>A (p.Arg598Gln)	ABCC8 (R598Q +1 more)	Single nucleotide variant (missense variant +1 more)	Hypoglycemia +11 more	GLikely pathogenic
Select item 523360	NM_000352.6(ABCC8):c.1024G>T (p.Gly342Trp)	ABCC8 (G342W +1 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +13 more	GConflicting classifications of pathogenicity
Select item 373928	NM_000525.4(KCNJ11):c.185C>G (p.Thr62Arg)	KCNJ11 (T62R)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemia +3 more	GLikely pathogenic
Select item 267815	46;X;t(X;5)(p11.23;q35)dn		Translocation	High myopia +14 more	GPathogenic
Select item 210067	NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg)	ABCC8 (C418R +1 more)	Single nucleotide variant (missense variant +1 more)	Permanent neonatal diabetes mellitus +8 more	GConflicting classifications of pathogenicity
Select item 35609	NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met)	ABCC8 (V1173M +3 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +5 more	GUncertain significance
Select item 11998	NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)	G6PC1 (R83C)	Single nucleotide variant (missense variant)	Glycogen storage disease +5 more	GPathogenic
Select item 8684	NM_000525.4(KCNJ11):c.466G>A (p.Gly156Arg)	KCNJ11 (G156R +1 more)	Single nucleotide variant (missense variant)	Hypoglycemia +1 more	GConflicting classifications of pathogenicity
Select item 6367	NM_001365536.1(SCN9A):c.1997A>G (p.Lys666Arg)	SCN1A-AS1, SCN9A (K666R)	Single nucleotide variant (missense variant)	SCN9A-related disorder +8 more	GBenign/Likely benign