Related gene-specific medical variations for Gene (Select 114134) - ClinVar

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Links from Gene

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3319452	NM_052885.4(SLC2A13):c.98C>G (p.Ala33Gly)	LOC130007684, SLC2A13 (A33G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319451	NM_052885.4(SLC2A13):c.848G>A (p.Arg283His)	LOC126861504, SLC2A13 (R283H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319449	NM_052885.4(SLC2A13):c.149G>T (p.Ser50Ile)	LOC130007683, SLC2A13 (S50I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164122	NM_052885.4(SLC2A13):c.1876T>C (p.Tyr626His)	REDIC1, SLC2A13 (Y626H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164121	NM_052885.4(SLC2A13):c.169G>A (p.Gly57Ser)	LOC130007683, SLC2A13 (G57S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164120	NM_052885.4(SLC2A13):c.1681C>G (p.Leu561Val)	REDIC1, SLC2A13 (L561V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164119	NM_052885.4(SLC2A13):c.1636G>T (p.Ala546Ser)	REDIC1, SLC2A13 (A546S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164118	NM_052885.4(SLC2A13):c.1424C>T (p.Thr475Ile)	REDIC1, SLC2A13 (T475I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164117	NM_052885.4(SLC2A13):c.1372A>G (p.Asn458Asp)	REDIC1, SLC2A13 (N458D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164116	NM_052885.4(SLC2A13):c.1304C>T (p.Thr435Ile)	REDIC1, SLC2A13 (T435I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164115	NM_052885.4(SLC2A13):c.1262G>A (p.Arg421His)	REDIC1, SLC2A13 (R421H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534580	NM_052885.4(SLC2A13):c.145A>G (p.Thr49Ala)	LOC130007683, SLC2A13 (T49A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2507541	NM_052885.4(SLC2A13):c.157A>G (p.Ser53Gly)	LOC130007683, SLC2A13 (S53G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2408054	NM_052885.4(SLC2A13):c.1489G>A (p.Ala497Thr)	REDIC1, SLC2A13 (A497T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369626	NM_052885.4(SLC2A13):c.1739C>T (p.Ala580Val)	REDIC1, SLC2A13 (A580V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343888	NM_052885.4(SLC2A13):c.746C>G (p.Ala249Gly)	LOC126861504, SLC2A13 (A249G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321412	NM_052885.4(SLC2A13):c.75G>T (p.Arg25Ser)	LOC130007684, SLC2A13 (R25S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319364	NM_052885.4(SLC2A13):c.167C>T (p.Ala56Val)	LOC130007683, SLC2A13 (A56V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269816	NM_052885.4(SLC2A13):c.1613T>G (p.Leu538Arg)	REDIC1, SLC2A13 (L538R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242628	NM_052885.4(SLC2A13):c.777G>T (p.Leu259Phe)	LOC126861504, SLC2A13 (L259F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807787	GRCh37/hg19 12q12(chr12:40272679-40452284)x1	SLC2A13	Copy number loss	not provided	GUncertain significance
Select item 815520	GRCh37/hg19 12q12(chr12:40250496-40313865)x1	SLC2A13	Copy number loss	not provided	GUncertain significance
Select item 151257	GRCh38/hg38 12q12(chr12:39934307-39976881)x1	SLC2A13	Copy number loss	See cases	GLikely benign

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Items: 23