Related gene-specific medical variations for Gene (Select 6566) - ClinVar

	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 2687852	NM_003051.4(SLC16A1):c.97T>N (p.Ser33Xaa)	SLC16A1 (S33*)	Single nucleotide variant (missense variant)	not specified	GLikely pathogenic
Select item 1325075	NM_003051.4(SLC16A1):c.727C>T (p.Arg243Ter)	SLC16A1 (R243*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 549573	NC_000001.11:g.112796384_112887499dup	LINC01356, CAPZA1 +12 more	Duplication	Primary amenorrhea	GUncertain significance
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 291913	NM_003051.4(SLC16A1):c.-163T>C	LOC129931218, SLC16A1	Single nucleotide variant (5 prime UTR variant)	Exercise-induced hyperinsulinism	GUncertain significance
Select item 8916	NM_003051.4(SLC16A1):c.-202G>A	LOC129931218, SLC16A1	Single nucleotide variant (5 prime UTR variant)	Exercise-induced hyperinsulinism	GPathogenic

ClinVar