ClinVar for MedGen (Select 351246) - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233368	NM_003051.4(SLC16A1):c.1079C>G (p.Ala360Gly)	SLC16A1 (A360G)	Single nucleotide variant (missense variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 1712344	NM_003051.4(SLC16A1):c.785G>C (p.Gly262Ala)	SLC16A1 (G262A)	Single nucleotide variant (missense variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 1570647	NM_003051.4(SLC16A1):c.362-58TATT[8]	SLC16A1	Microsatellite (intron variant)	Exercise-induced hyperinsulinism +3 more	GBenign/Likely benign
Select item 1332975	NM_003051.4(SLC16A1):c.362-21A>C	SLC16A1	Single nucleotide variant (intron variant)	SLC16A1-related disorder +3 more	GBenign
Select item 876928	NM_003051.4(SLC16A1):c.1281C>T (p.Gly427=)	SLC16A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 876885	NM_003051.4(SLC16A1):c.*1044T>G	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 876884	NM_003051.4(SLC16A1):c.*1071T>C	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 876883	NM_003051.4(SLC16A1):c.*1134G>A	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 875999	NM_003051.4(SLC16A1):c.295G>A (p.Gly99Ser)	SLC16A1 (G99S)	Single nucleotide variant (missense variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 875941	NM_003051.4(SLC16A1):c.1367A>T (p.Glu456Val)	SLC16A1 (E456V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 875888	NM_003051.4(SLC16A1):c.*1654A>G	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 875170	NM_003051.3(SLC16A1):c.-324T>G	LOC129931218, SLC16A1	Single nucleotide variant	Exercise-induced hyperinsulinism	GUncertain significance
Select item 875169	NM_003051.3(SLC16A1):c.-316G>A	LOC129931218, SLC16A1	Single nucleotide variant	Exercise-induced hyperinsulinism	GUncertain significance
Select item 875015	NM_003051.4(SLC16A1):c.*137A>T	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 875014	NM_003051.4(SLC16A1):c.*332T>C	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GLikely benign
Select item 875013	NM_003051.4(SLC16A1):c.*361G>T	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 874248	NM_003051.3(SLC16A1):c.-218G>A	LOC129931218, SLC16A1	Single nucleotide variant	Exercise-induced hyperinsulinism	GUncertain significance
Select item 874247	NM_003051.3(SLC16A1):c.-214C>G	SLC16A1, LOC129931218	Single nucleotide variant	Exercise-induced hyperinsulinism	GUncertain significance
Select item 874139	NM_003051.4(SLC16A1):c.540T>C (p.Ile180=)	SLC16A1	Single nucleotide variant (synonymous variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 874138	NM_003051.4(SLC16A1):c.680A>G (p.His227Arg)	SLC16A1 (H227R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 874083	NM_003051.4(SLC16A1):c.*657C>A	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 874082	NM_003051.4(SLC16A1):c.*739T>C	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 874081	NM_003051.4(SLC16A1):c.*946G>A	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 827804	NM_003051.4(SLC16A1):c.328C>T (p.Gln110Ter)	SLC16A1 (Q110*)	Single nucleotide variant (nonsense)	Exercise-induced hyperinsulinism	GLikely pathogenic
Select item 801532	NM_003051.4(SLC16A1):c.404T>C (p.Ile135Thr)	SLC16A1 (I135T)	Single nucleotide variant (missense variant)	Exercise-induced hyperinsulinism	GLikely benign
Select item 733619	NM_003051.4(SLC16A1):c.1282G>A (p.Val428Ile)	SLC16A1 (V428I)	Single nucleotide variant (missense variant)	Exercise-induced hyperinsulinism +1 more	GBenign/Likely benign
Select item 712920	NM_003051.4(SLC16A1):c.973A>G (p.Ile325Val)	SLC16A1 (I325V)	Single nucleotide variant (missense variant)	Ketoacidosis due to monocarboxylate transporter-1 deficiency +4 more	GBenign/Likely benign
Select item 436732	NM_003051.4(SLC16A1):c.-201T>A	LOC129931218, SLC16A1	Single nucleotide variant (5 prime UTR variant)	Exercise-induced hyperinsulinism +1 more	GUncertain significance
Select item 291925	NM_003051.3(SLC16A1):c.-360G>A	LOC129931218, SLC16A1	Single nucleotide variant	Exercise-induced hyperinsulinism	GUncertain significance
Select item 291924	NM_003051.3(SLC16A1):c.-349G>A	LOC129931218, SLC16A1	Single nucleotide variant	Exercise-induced hyperinsulinism	GUncertain significance
Select item 291922	NM_003051.3(SLC16A1):c.-314A>G	LOC129931218, SLC16A1	Single nucleotide variant	Exercise-induced hyperinsulinism	GUncertain significance
Select item 291921	NM_003051.3(SLC16A1):c.-313T>C	LOC129931218, SLC16A1	Single nucleotide variant	Exercise-induced hyperinsulinism	GUncertain significance
Select item 291919	NM_003051.3(SLC16A1):c.-249C>G	SLC16A1, LOC129931218	Single nucleotide variant	Exercise-induced hyperinsulinism	GLikely benign
Select item 291918	NM_003051.3(SLC16A1):c.-249C>T	LOC129931218, SLC16A1	Single nucleotide variant	Exercise-induced hyperinsulinism	GUncertain significance
Select item 291917	NM_003051.3(SLC16A1):c.-248G>T	LOC129931218, SLC16A1	Single nucleotide variant	Exercise-induced hyperinsulinism	GUncertain significance
Select item 291915	NM_003051.3(SLC16A1):c.-226G>A	LOC129931218, SLC16A1	Single nucleotide variant	Exercise-induced hyperinsulinism	GUncertain significance
Select item 291913	NM_003051.4(SLC16A1):c.-163T>C	LOC129931218, SLC16A1	Single nucleotide variant (5 prime UTR variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 291912	NM_003051.4(SLC16A1):c.-92G>T	SLC16A1	Single nucleotide variant (5 prime UTR variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 291911	NM_003051.4(SLC16A1):c.-87C>T	SLC16A1	Single nucleotide variant (5 prime UTR variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 291889	NM_003051.4(SLC16A1):c.72T>A (p.Ile24=)	SLC16A1	Single nucleotide variant (synonymous variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 291867	NM_003051.4(SLC16A1):c.489C>A (p.Pro163=)	SLC16A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 291866	NM_003051.4(SLC16A1):c.508G>A (p.Gly170Ser)	SLC16A1 (G170S)	Single nucleotide variant (missense variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 291865	NM_003051.4(SLC16A1):c.527G>A (p.Gly176Glu)	SLC16A1 (G176E)	Single nucleotide variant (missense variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 291861	NM_003051.4(SLC16A1):c.979C>T (p.Pro327Ser)	SLC16A1 (P327S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 291860	NM_003051.4(SLC16A1):c.983G>T (p.Arg328Leu)	SLC16A1 (R328L)	Single nucleotide variant (missense variant)	Exercise-induced hyperinsulinism +1 more	GUncertain significance
Select item 291859	NM_003051.4(SLC16A1):c.1117G>A (p.Val373Ile)	SLC16A1 (V373I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 291858	NM_003051.4(SLC16A1):c.1228+6G>A	SLC16A1	Single nucleotide variant (intron variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 291854	NM_003051.4(SLC16A1):c.1342T>C (p.Leu448=)	SLC16A1	Single nucleotide variant (synonymous variant)	Exercise-induced hyperinsulinism +1 more	GConflicting classifications of pathogenicity
Select item 291853	NM_003051.4(SLC16A1):c.1345G>A (p.Ala449Thr)	SLC16A1 (A449T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 291852	NM_003051.4(SLC16A1):c.1430T>C (p.Val477Ala)	SLC16A1 (V477A)	Single nucleotide variant (missense variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 291851	NM_003051.4(SLC16A1):c.1452G>A (p.Pro484=)	SLC16A1	Single nucleotide variant (synonymous variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 291850	NM_003051.4(SLC16A1):c.*77C>T	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 291849	NM_003051.4(SLC16A1):c.*104C>T	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 291847	NM_003051.4(SLC16A1):c.*145T>G	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GLikely benign
Select item 291846	NM_003051.4(SLC16A1):c.*516C>G	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 291845	NM_003051.4(SLC16A1):c.*603T>C	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 291844	NM_003051.4(SLC16A1):c.*629C>T	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 291843	NM_003051.4(SLC16A1):c.*739T>G	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 291842	NM_003051.4(SLC16A1):c.*815G>A	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 291841	NM_003051.4(SLC16A1):c.*948G>A	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 291839	NM_003051.4(SLC16A1):c.*1018T>G	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 291838	NM_003051.4(SLC16A1):c.*1051G>A	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 291837	NM_003051.4(SLC16A1):c.*1064G>T	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 291836	NM_003051.4(SLC16A1):c.*1072G>T	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 291833	NM_003051.4(SLC16A1):c.*1281T>G	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GLikely benign
Select item 291832	NM_003051.4(SLC16A1):c.*1312G>C	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 291831	NM_003051.4(SLC16A1):c.*1414C>T	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GBenign
Select item 291830	NM_003051.4(SLC16A1):c.*1624A>G	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GLikely benign
Select item 291829	NM_003051.4(SLC16A1):c.*1801A>G	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 291828	NM_003051.4(SLC16A1):c.*1876G>C	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GLikely benign
Select item 291827	NM_003051.4(SLC16A1):c.*1942T>C	SLC16A1	Single nucleotide variant (3 prime UTR variant)	Exercise-induced hyperinsulinism	GBenign
Select item 258903	NM_003051.4(SLC16A1):c.441C>T (p.Asn147=)	SLC16A1	Single nucleotide variant (synonymous variant)	Exercise-induced hyperinsulinism +2 more	GConflicting classifications of pathogenicity
Select item 258902	NM_003051.4(SLC16A1):c.1002G>A (p.Ala334=)	SLC16A1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 160370	NM_003051.4(SLC16A1):c.982C>T (p.Arg328Ter)	SLC16A1 (R328*)	Single nucleotide variant (nonsense)	Exercise-induced hyperinsulinism	GPathogenic
Select item 130315	NM_003051.4(SLC16A1):c.1470T>A (p.Asp490Glu)	SLC16A1 (D490E)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 8917	NM_003051.3(SLC16A1):c.-391_-390insACGCCGGTCACGTGGCGGGGTGGGG	LOC129931218, SLC16A1	Insertion	Exercise-induced hyperinsulinism	GPathogenic
Select item 8916	NM_003051.4(SLC16A1):c.-202G>A	LOC129931218, SLC16A1	Single nucleotide variant (5 prime UTR variant)	Exercise-induced hyperinsulinism	GPathogenic

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Items: 77