ClinVar for Gene (Select 154091) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3319448	NM_145176.3(SLC2A12):c.1024G>C (p.Gly342Arg)	SLC2A12 (G342R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319447	NM_145176.3(SLC2A12):c.530T>C (p.Ile177Thr)	SLC2A12 (I177T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319446	NM_145176.3(SLC2A12):c.1481G>A (p.Gly494Glu)	SLC2A12 (G494E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319445	NM_145176.3(SLC2A12):c.1034C>T (p.Thr345Ile)	SLC2A12 (T345I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319444	NM_145176.3(SLC2A12):c.847C>G (p.Leu283Val)	SLC2A12 (L283V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319443	NM_145176.3(SLC2A12):c.1585T>C (p.Trp529Arg)	SLC2A12 (W529R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319442	NM_145176.3(SLC2A12):c.1295C>T (p.Thr432Met)	SLC2A12 (T432M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3164114	NM_145176.3(SLC2A12):c.826C>T (p.Arg276Trp)	SLC2A12 (R276W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164112	NM_145176.3(SLC2A12):c.709C>T (p.Leu237Phe)	SLC2A12 (L237F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164111	NM_145176.3(SLC2A12):c.496C>T (p.Leu166Phe)	SLC2A12 (L166F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164110	NM_145176.3(SLC2A12):c.413T>G (p.Ile138Ser)	SLC2A12 (I138S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164109	NM_145176.3(SLC2A12):c.238G>A (p.Glu80Lys)	SLC2A12 (E80K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164108	NM_145176.3(SLC2A12):c.1183G>C (p.Gly395Arg)	SLC2A12 (G395R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164107	NM_145176.3(SLC2A12):c.109G>A (p.Gly37Ser)	SLC2A12 (G37S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3164106	NM_145176.3(SLC2A12):c.1083G>A (p.Met361Ile)	SLC2A12 (M361I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062934	GRCh37/hg19 6q23.2-24.2(chr6:131569837-145572239)x3	ABRACL, ADAT2 +69 more	Copy number gain	not specified	GPathogenic
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 2685213	GRCh37/hg19 6q22.31-23.3(chr6:120218852-137160850)x1	AHI1, AKAP7 +69 more	Copy number loss	not provided	GPathogenic
Select item 2656921	NM_145176.3(SLC2A12):c.1296G>T (p.Thr432=)	SLC2A12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2608702	NM_145176.3(SLC2A12):c.1366G>A (p.Val456Ile)	SLC2A12 (V456I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593978	NM_145176.3(SLC2A12):c.565T>C (p.Phe189Leu)	SLC2A12 (F189L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570071	NM_145176.3(SLC2A12):c.1412A>G (p.Tyr471Cys)	SLC2A12 (Y471C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549099	NM_145176.3(SLC2A12):c.548A>G (p.Tyr183Cys)	SLC2A12 (Y183C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496192	NM_145176.3(SLC2A12):c.1012G>A (p.Val338Ile)	SLC2A12 (V338I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490503	NM_145176.3(SLC2A12):c.1177G>A (p.Gly393Arg)	SLC2A12 (G393R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408419	NM_145176.3(SLC2A12):c.1093A>G (p.Asn365Asp)	SLC2A12 (N365D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402008	NM_145176.3(SLC2A12):c.4G>A (p.Val2Ile)	SLC2A12 (V2I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375176	NM_145176.3(SLC2A12):c.355C>T (p.Leu119Phe)	SLC2A12 (L119F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361507	NM_145176.3(SLC2A12):c.1561G>A (p.Val521Ile)	SLC2A12 (V521I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355660	NM_145176.3(SLC2A12):c.1291G>A (p.Glu431Lys)	SLC2A12 (E431K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347029	NM_145176.3(SLC2A12):c.1430T>C (p.Ile477Thr)	SLC2A12 (I477T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308927	NM_145176.3(SLC2A12):c.982G>A (p.Val328Ile)	SLC2A12 (V328I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293716	NM_145176.3(SLC2A12):c.1733G>A (p.Ser578Asn)	SLC2A12 (S578N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275938	NM_145176.3(SLC2A12):c.1446G>T (p.Met482Ile)	SLC2A12 (M482I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266936	NM_145176.3(SLC2A12):c.827G>A (p.Arg276Gln)	SLC2A12 (R276Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254100	NM_145176.3(SLC2A12):c.673G>A (p.Val225Met)	SLC2A12 (V225M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247636	NM_145176.3(SLC2A12):c.338C>T (p.Ser113Leu)	SLC2A12 (S113L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240391	NM_145176.3(SLC2A12):c.807T>A (p.Phe269Leu)	SLC2A12 (F269L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236634	NM_145176.3(SLC2A12):c.1067C>G (p.Ala356Gly)	SLC2A12 (A356G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229239	NM_145176.3(SLC2A12):c.137C>T (p.Thr46Ile)	SLC2A12 (T46I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219101	NM_145176.3(SLC2A12):c.1365C>A (p.Asp455Glu)	SLC2A12 (D455E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2214781	NM_145176.3(SLC2A12):c.1079C>T (p.Thr360Ile)	SLC2A12 (T360I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808956	GRCh37/hg19 6q23.2(chr6:133522860-134541311)x1	EYA4, SGK1 +3 more	Copy number loss	not provided	GPathogenic
Select item 1340932	GRCh37/hg19 6q23.1-23.3(chr6:130769034-136009217)x1	AHI1, AKAP7 +30 more	Copy number loss	not provided	GPathogenic
Select item 1180549	GRCh37/hg19 6q23.2-24.1(chr6:133810210-140046615)x1	MYB, NHSL1 +32 more	Copy number loss	not provided	GPathogenic
Select item 814871	GRCh37/hg19 6q23.2-24.1(chr6:133817341-140038401)x1	SLC35D3, IFNGR1 +32 more	Copy number loss	not provided	GPathogenic
Select item 788103	NM_145176.3(SLC2A12):c.1224C>T (p.Phe408=)	SLC2A12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 563236	GRCh37/hg19 6q23.2-23.3(chr6:132002460-137160850)x1	ALDH8A1, PDE7B +31 more	Copy number loss	not provided	GPathogenic
Select item 563235	GRCh37/hg19 6q23.2-23.3(chr6:131388023-137469640)x1	ALDH8A1, VNN2 +37 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 441897	GRCh37/hg19 6q23.2-24.2(chr6:133077239-143761582)x1	ABRACL, ADAT2 +41 more	Copy number loss	See cases	GPathogenic
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 54