154091[Gene ID] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	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 2293716	NM_145176.3(SLC2A12):c.1733G>A (p.Ser578Asn)	SLC2A12 (S578N)	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 2361507	NM_145176.3(SLC2A12):c.1561G>A (p.Val521Ile)	SLC2A12 (V521I)	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 2275938	NM_145176.3(SLC2A12):c.1446G>T (p.Met482Ile)	SLC2A12 (M482I)	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 2570071	NM_145176.3(SLC2A12):c.1412A>G (p.Tyr471Cys)	SLC2A12 (Y471C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2219101	NM_145176.3(SLC2A12):c.1365C>A (p.Asp455Glu)	SLC2A12 (D455E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2656921	NM_145176.3(SLC2A12):c.1296G>T (p.Thr432=)	SLC2A12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2355660	NM_145176.3(SLC2A12):c.1291G>A (p.Glu431Lys)	SLC2A12 (E431K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788103	NM_145176.3(SLC2A12):c.1224C>T (p.Phe408=)	SLC2A12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 3164106	NM_145176.3(SLC2A12):c.1083G>A (p.Met361Ile)	SLC2A12 (M361I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2236634	NM_145176.3(SLC2A12):c.1067C>G (p.Ala356Gly)	SLC2A12 (A356G)	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 3319448	NM_145176.3(SLC2A12):c.1024G>C (p.Gly342Arg)	SLC2A12 (G342R)	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 2308927	NM_145176.3(SLC2A12):c.982G>A (p.Val328Ile)	SLC2A12 (V328I)	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 2266936	NM_145176.3(SLC2A12):c.827G>A (p.Arg276Gln)	SLC2A12 (R276Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2240391	NM_145176.3(SLC2A12):c.807T>A (p.Phe269Leu)	SLC2A12 (F269L)	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 2254100	NM_145176.3(SLC2A12):c.673G>A (p.Val225Met)	SLC2A12 (V225M)	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 2549099	NM_145176.3(SLC2A12):c.548A>G (p.Tyr183Cys)	SLC2A12 (Y183C)	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 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 2375176	NM_145176.3(SLC2A12):c.355C>T (p.Leu119Phe)	SLC2A12 (L119F)	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 3164109	NM_145176.3(SLC2A12):c.238G>A (p.Glu80Lys)	SLC2A12 (E80K)	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 3164107	NM_145176.3(SLC2A12):c.109G>A (p.Gly37Ser)	SLC2A12 (G37S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 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 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

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Items: 54