C1864903[trait identifier] AND "Clinical Genomics, Uppaluri K&H Person - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 902091	NM_005327.4(HADH):c.-203A>G	HADH, LOC129992931	Single nucleotide variant	Deficiency of 3-hydroxyacyl-CoA dehydrogenase +2 more	GConflicting classifications of pathogenicity
Select item 2498224	NM_005327.4(HADH):c.-195A>T	HADH, LOC129992931	Single nucleotide variant	Hyperinsulinemic hypoglycemia	GLikely benign
Select item 2498223	NM_005327.4(HADH):c.-193G>T	HADH, LOC129992931	Single nucleotide variant	Hyperinsulinemic hypoglycemia	GLikely benign
Select item 347124	NM_005327.4(HADH):c.-115delG	LOC129992931, HADH	Deletion	Hyperinsulinemic hypoglycemia +3 more	GUncertain significance/Uncertain risk allele
Select item 347125	NM_005327.4(HADH):c.-102G>A	HADH, LOC129992931	Single nucleotide variant	Hyperinsulinemic hypoglycemia +3 more	GConflicting classifications of pathogenicity
Select item 902970	NM_005327.4(HADH):c.-86G>T	HADH, LOC129992931	Single nucleotide variant	Deficiency of 3-hydroxyacyl-CoA dehydrogenase +2 more	GConflicting classifications of pathogenicity
Select item 347126	NM_005327.4(HADH):c.-71C>T	HADH, LOC129992931	Single nucleotide variant	Hyperinsulinemic hypoglycemia +2 more	GBenign/Likely benign
Select item 347127	NM_005327.4(HADH):c.-65G>A	HADH, LOC129992931	Single nucleotide variant	Hyperinsulinemic hypoglycemia +3 more	GBenign/Likely benign
Select item 900414	NM_005327.4(HADH):c.-56C>A	HADH, LOC129992931	Single nucleotide variant	Hyperinsulinemic hypoglycemia, familial, 4 +2 more	GConflicting classifications of pathogenicity
Select item 347128	NM_005327.4(HADH):c.-51delC	HADH, LOC129992931	Deletion	Hyperinsulinism, Dominant/Recessive +3 more	GUncertain significance/Uncertain risk allele
Select item 347129	NM_005327.7(HADH):c.-38T>C	HADH	Single nucleotide variant (5 prime UTR variant)	Hyperinsulinemic hypoglycemia +3 more	GBenign/Likely benign
Select item 347130	NM_005327.7(HADH):c.-36C>T	HADH	Single nucleotide variant (5 prime UTR variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase +2 more	GConflicting classifications of pathogenicity
Select item 900482	NM_005327.7(HADH):c.-34C>T	HADH	Single nucleotide variant (5 prime UTR variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase +2 more	GConflicting classifications of pathogenicity
Select item 347131	NM_005327.7(HADH):c.21G>A (p.Gln7=)	HADH	Single nucleotide variant (synonymous variant)	Hyperinsulinemic hypoglycemia +2 more	GConflicting classifications of pathogenicity
Select item 917461	NM_005327.7(HADH):c.47C>T (p.Ser16Phe)	HADH (S16F)	Single nucleotide variant (missense variant)	Monogenic diabetes +2 more	GUncertain significance/Uncertain risk allele
Select item 347132	NM_005327.7(HADH):c.72G>A (p.Lys24=)	HADH	Single nucleotide variant (synonymous variant)	Hyperinsulinemic hypoglycemia +2 more	GConflicting classifications of pathogenicity
Select item 704870	NM_005327.7(HADH):c.99C>G (p.Ile33Met)	HADH (I33M)	Single nucleotide variant (missense variant)	HADH-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 659541	NM_005327.7(HADH):c.100G>C (p.Gly34Arg)	HADH (G34R)	Single nucleotide variant (missense variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase +2 more	GLikely pathogenic
Select item 8018	NM_005327.7(HADH):c.118G>A (p.Ala40Thr)	HADH (A40T)	Single nucleotide variant (missense variant)	Hyperinsulinemic hypoglycemia	GLikely risk allele
Select item 902147	NM_005327.7(HADH):c.132+6C>G	HADH	Single nucleotide variant (intron variant)	Hyperinsulinemic hypoglycemia, familial, 4 +2 more	GConflicting classifications of pathogenicity
Select item 211125	NM_005327.7(HADH):c.132+7G>T	HADH	Single nucleotide variant (intron variant)	Hyperinsulinemic hypoglycemia +3 more	GConflicting classifications of pathogenicity
Select item 902148	NM_005327.7(HADH):c.133-15C>T	HADH	Single nucleotide variant (intron variant)	Hyperinsulinemic hypoglycemia, familial, 4 +3 more	GConflicting classifications of pathogenicity
Select item 902149	NM_005327.7(HADH):c.159A>G (p.Val53=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase +2 more	GConflicting classifications of pathogenicity
Select item 8019	NM_005327.7(HADH):c.171C>A (p.Asp57Glu)	HADH (D57E +1 more)	Single nucleotide variant (missense variant)	Hyperinsulinemic hypoglycemia +1 more	GUncertain significance/Uncertain risk allele
Select item 347133	NM_005327.7(HADH):c.240G>A (p.Lys80=)	HADH	Single nucleotide variant (synonymous variant)	Hyperinsulinemic hypoglycemia, familial, 4 +3 more	GConflicting classifications of pathogenicity
Select item 802082	NM_005327.7(HADH):c.261+1G>A	HADH	Single nucleotide variant (splice donor variant)	Hyperinsulinemic hypoglycemia, familial, 4 +2 more	GPathogenic/Likely pathogenic
Select item 903028	NM_005327.7(HADH):c.264C>T (p.Ala88=)	HADH	Single nucleotide variant (synonymous variant)	Hyperinsulinemic hypoglycemia +2 more	GConflicting classifications of pathogenicity
Select item 640701	NM_005327.7(HADH):c.266G>A (p.Gly89Asp)	HADH (G89D +1 more)	Single nucleotide variant (missense variant)	Hyperinsulinemic hypoglycemia +1 more	GUncertain significance/Uncertain risk allele
Select item 1005599	NM_005327.7(HADH):c.280G>C (p.Glu94Gln)	HADH (E94Q +1 more)	Single nucleotide variant (missense variant)	Hyperinsulinemic hypoglycemia +1 more	GConflicting classifications of pathogenicity
Select item 347134	NM_005327.7(HADH):c.291G>T (p.Leu97=)	HADH	Single nucleotide variant (synonymous variant)	Hyperinsulinemic hypoglycemia +2 more	GConflicting classifications of pathogenicity
Select item 748873	NM_005327.7(HADH):c.324C>T (p.Ser108=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase +2 more	GBenign/Likely benign
Select item 652881	NM_005327.7(HADH):c.349G>C (p.Val117Leu)	HADH (V117L +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 917462	NM_005327.7(HADH):c.361G>A (p.Val121Met)	HADH (V121M +1 more)	Single nucleotide variant (missense variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase +2 more	GUncertain significance/Uncertain risk allele
Select item 432053	NM_005327.7(HADH):c.374_375insTTCA (p.Lys125fs)	HADH (K129fs +1 more)	Insertion (frameshift variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 962564	NM_005327.7(HADH):c.380A>G (p.Lys127Arg)	HADH (K131R +1 more)	Single nucleotide variant (missense variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase +1 more	GConflicting classifications of pathogenicity
Select item 760143	NM_005327.7(HADH):c.384C>T (p.Asn128=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase +1 more	GBenign/Likely benign
Select item 435392	NM_005327.7(HADH):c.419+39del	HADH	Deletion (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 864194	NM_005327.7(HADH):c.479C>T (p.Thr160Ile)	HADH (T160I +1 more)	Single nucleotide variant (missense variant)	Hyperinsulinemic hypoglycemia +1 more	GUncertain significance/Uncertain risk allele
Select item 197252	NM_005327.7(HADH):c.486A>G (p.Arg162=)	HADH	Single nucleotide variant (synonymous variant)	Hyperinsulinemic hypoglycemia +2 more	GConflicting classifications of pathogenicity
Select item 860765	NM_005327.7(HADH):c.494G>A (p.Arg165Gln)	HADH (R165Q +1 more)	Single nucleotide variant (missense variant)	Hyperinsulinemic hypoglycemia +1 more	GUncertain significance/Uncertain risk allele
Select item 211128	NM_005327.7(HADH):c.579A>G (p.Thr193=)	HADH	Single nucleotide variant (synonymous variant)	Hyperinsulinemic hypoglycemia +2 more	GConflicting classifications of pathogenicity
Select item 705617	NM_005327.7(HADH):c.614G>C (p.Gly205Ala)	HADH (G205A +1 more)	Single nucleotide variant (missense variant)	Monogenic diabetes +4 more	GConflicting classifications of pathogenicity
Select item 871109	NM_005327.7(HADH):c.617del (p.Lys206fs)	HADH (K210fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 549514	NM_005327.7(HADH):c.643C>A (p.Pro215Thr)	HADH (P215T +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 900535	NM_005327.7(HADH):c.688G>A (p.Ala230Thr)	HADH (A230T +1 more)	Single nucleotide variant (missense variant)	Hyperinsulinemic hypoglycemia +2 more	GConflicting classifications of pathogenicity
Select item 758053	NM_005327.7(HADH):c.696G>A (p.Arg232=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase +1 more	GConflicting classifications of pathogenicity
Select item 917463	NM_005327.7(HADH):c.710-845C>G	HADH (F238L)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia +1 more	GConflicting classifications of pathogenicity
Select item 2499170	NM_005327.7(HADH):c.710-822C>T	HADH (S246L)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia	GLikely pathogenic
Select item 900536	NM_005327.7(HADH):c.710-14C>T	HADH	Single nucleotide variant (intron variant)	Hyperinsulinemic hypoglycemia, familial, 4 +2 more	GConflicting classifications of pathogenicity
Select item 1003601	NM_005327.7(HADH):c.725A>G (p.Glu242Gly)	HADH (E242G +2 more)	Single nucleotide variant (missense variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase +1 more	GConflicting classifications of pathogenicity
Select item 1007414	NM_005327.7(HADH):c.740C>T (p.Ala247Val)	HADH (A247V +2 more)	Single nucleotide variant (missense variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase +1 more	GUncertain significance/Uncertain risk allele
Select item 1009098	NM_005327.7(HADH):c.761A>G (p.Tyr254Cys)	HADH (Y254C +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinemic hypoglycemia +1 more	GConflicting classifications of pathogenicity
Select item 744099	NM_005327.7(HADH):c.795C>T (p.Val265=)	HADH	Single nucleotide variant (synonymous variant)	Hyperinsulinemic hypoglycemia +1 more	GBenign/Likely benign
Select item 902197	NM_005327.7(HADH):c.809C>T (p.Thr270Met)	HADH (T270M +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinemic hypoglycemia, familial, 4 +2 more	GUncertain significance/Uncertain risk allele
Select item 1024954	NM_005327.7(HADH):c.820G>A (p.Val274Met)	HADH (V274M +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinemic hypoglycemia +1 more	GConflicting classifications of pathogenicity
Select item 902198	NM_005327.7(HADH):c.823G>A (p.Asp275Asn)	HADH (D279N +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinemic hypoglycemia +3 more	GUncertain significance/Uncertain risk allele
Select item 902199	NM_005327.7(HADH):c.825T>G (p.Asp275Glu)	HADH (D279E +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinemic hypoglycemia +2 more	GConflicting classifications of pathogenicity
Select item 744911	NM_005327.7(HADH):c.827-10C>T	HADH	Single nucleotide variant (intron variant)	Hyperinsulinemic hypoglycemia +2 more	GLikely benign
Select item 393393	NM_005327.7(HADH):c.881A>G (p.Asn294Ser)	HADH (N294S +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinemic hypoglycemia +5 more	GConflicting classifications of pathogenicity
Select item 347135	NM_005327.7(HADH):c.889G>A (p.Val297Ile)	HADH (V297I +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinemic hypoglycemia +2 more	GUncertain significance/Uncertain risk allele
Select item 647412	NM_005327.7(HADH):c.908G>T (p.Gly303Val)	HADH (G303V +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 347136	NM_005327.7(HADH):c.*59G>A	HADH	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinemic hypoglycemia +2 more	GConflicting classifications of pathogenicity
Select item 347137	NM_005327.7(HADH):c.*109T>A	HADH	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 903080	NM_005327.7(HADH):c.*142G>A	HADH	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinemic hypoglycemia, familial, 4 +2 more	GConflicting classifications of pathogenicity
Select item 903081	NM_005327.7(HADH):c.*168A>T	HADH	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinemic hypoglycemia, familial, 4 +2 more	GConflicting classifications of pathogenicity
Select item 899454	NM_005327.7(HADH):c.*279C>A	HADH	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinemic hypoglycemia +2 more	GConflicting classifications of pathogenicity
Select item 347138	NM_005327.7(HADH):c.*305T>A	HADH	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinemic hypoglycemia +2 more	GConflicting classifications of pathogenicity
Select item 899455	NM_005327.7(HADH):c.*335C>A	HADH	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinemic hypoglycemia +2 more	GConflicting classifications of pathogenicity
Select item 899456	NM_005327.7(HADH):c.*377G>A	HADH	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinemic hypoglycemia +2 more	GConflicting classifications of pathogenicity
Select item 158684	NM_000525.4(KCNJ11):c.801C>G (p.Leu267=)	KCNJ11	Single nucleotide variant (synonymous variant)	Hyperinsulinemic hypoglycemia, familial, 2 +7 more	GConflicting classifications of pathogenicity
Select item 158673	NM_000525.4(KCNJ11):c.161G>A (p.Arg54His)	KCNJ11 (R54H)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia +1 more	GConflicting classifications of pathogenicity

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Items: 71