"Genetic Services Laboratory, University of Chicago"[submitter] AND "S - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 8915	NM_003051.4(SLC16A1):c.1414G>A (p.Gly472Arg)	SLC16A1 (G472R)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 436731	NM_003051.4(SLC16A1):c.1236C>T (p.Leu412=)	SLC16A1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 212183	NM_003051.4(SLC16A1):c.1063G>A (p.Gly355Arg)	SLC16A1 (G355R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1337067	NM_003051.4(SLC16A1):c.1058A>G (p.Tyr353Cys)	SLC16A1 (Y353C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 212185	NM_003051.4(SLC16A1):c.762C>T (p.Asp254=)	SLC16A1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1338256	NM_003051.4(SLC16A1):c.589C>T (p.Pro197Ser)	SLC16A1 (P197S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1336772	NM_003051.4(SLC16A1):c.362-58TATT[13]	SLC16A1	Microsatellite (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 212184	NM_003051.4(SLC16A1):c.362-58TATT[9]	SLC16A1	Microsatellite (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 713802	NM_003051.4(SLC16A1):c.324C>T (p.Thr108=)	SLC16A1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1337414	NM_003051.4(SLC16A1):c.186C>T (p.Ser62=)	SLC16A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1337530	NM_003051.4(SLC16A1):c.-141G>A	SLC16A1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 1336466	NM_003051.4(SLC16A1):c.-158C>G	SLC16A1	Single nucleotide variant (5 prime UTR variant)	not specified	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 291916	NM_003051.3(SLC16A1):c.-246dup	LOC129931218, SLC16A1	Duplication	Hyperinsulinism, Dominant +1 more	GBenign/Likely benign
Select item 1337039	NM_003051.3(SLC16A1):c.-283G>A	SLC16A1, LOC129931218	Single nucleotide variant	not specified	GUncertain significance