Related gene-specific medical variations for Gene (Select 387700) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3318921	NM_213606.4(SLC16A12):c.13A>G (p.Ser5Gly)	SLC16A12, SLC16A12-AS1 (S5G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3163069	NM_213606.4(SLC16A12):c.159T>C (p.Ala53=)	SLC16A12, SLC16A12-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3037067	NM_213606.4(SLC16A12):c.180C>A (p.Ile60=)	SLC16A12, SLC16A12-AS1	Single nucleotide variant (synonymous variant)	SLC16A12-related disorder	GLikely benign
Select item 2395125	NM_213606.4(SLC16A12):c.100G>A (p.Val34Ile)	SLC16A12, SLC16A12-AS1 (V34I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289876	NM_213606.4(SLC16A12):c.40A>G (p.Ile14Val)	SLC16A12, SLC16A12-AS1 (I14V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2070348	NM_213606.4(SLC16A12):c.97A>G (p.Lys33Glu)	SLC16A12, SLC16A12-AS1 (K33E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2060390	NM_213606.4(SLC16A12):c.200+9del	SLC16A12, SLC16A12-AS1	Deletion (intron variant)	not provided	GLikely benign
Select item 1313505	NM_213606.4(SLC16A12):c.113G>A (p.Arg38Gln)	SLC16A12, SLC16A12-AS1 (R38Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304679	NM_213606.4(SLC16A12):c.122C>A (p.Ser41Tyr)	SLC16A12, SLC16A12-AS1 (S41Y)	Single nucleotide variant (missense variant)	Juvenile cataract-microcornea-renal glucosuria syndrome +1 more	GUncertain significance
Select item 931641	NM_213606.4(SLC16A12):c.305-9T>C	SLC16A12	Single nucleotide variant (intron variant)	Juvenile cataract-microcornea-renal glucosuria syndrome	GUncertain significance
Select item 681342	NM_213606.4(SLC16A12):c.49T>G (p.Trp17Gly)	SLC16A12, SLC16A12-AS1 (W17G)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 591603	NM_213606.4(SLC16A12):c.1022A>G (p.Asp341Gly)	SLC16A12 (D341G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591357	NM_213606.4(SLC16A12):c.145T>G (p.Trp49Gly)	SLC16A12, SLC16A12-AS1 (W49G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 562311	NM_213606.4(SLC16A12):c.662del (p.Gly221fs)	SLC16A12 (G221fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 217336	NM_213606.4(SLC16A12):c.610C>T (p.Arg204Trp)	SLC16A12 (R204W)	Single nucleotide variant (missense variant)	Juvenile cataract-microcornea-renal glucosuria syndrome	GUncertain significance
Select item 155244	GRCh38/hg38 10q23.31(chr10:89535104-89540489)x3	SLC16A12	Copy number gain	See cases	GLikely benign