G6PC2[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +488 more	Copy number loss	See cases	GPathogenic
Select item 60249	GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1	LOC129935070, LOC129935071 +162 more	Copy number loss	See cases	GPathogenic
Select item 57491	GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1	ABCB11, ATF2 +269 more	Copy number loss	See cases	GPathogenic
Select item 150637	GRCh38/hg38 2q24.3-31.1(chr2:168884350-169959279)x1	ABCB11, BBS5 +33 more	Copy number loss	See cases	GUncertain significance
Select item 2299975	NM_021176.3(G6PC2):c.19A>G (p.Asn7Asp)	G6PC2 (N7D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306325	NM_021176.3(G6PC2):c.158T>C (p.Val53Ala)	G6PC2 (V53A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097735	NM_021176.3(G6PC2):c.221T>A (p.Ile74Lys)	G6PC2 (I74K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260612	NM_021176.3(G6PC2):c.425C>G (p.Ser142Cys)	G6PC2 (S142C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097736	NM_021176.3(G6PC2):c.437A>G (p.His146Arg)	G6PC2 (H146R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039044	NM_021176.3(G6PC2):c.441-4G>A	G6PC2	Single nucleotide variant (intron variant)	G6PC2-related disorder	GBenign
Select item 3280330	NM_021176.3(G6PC2):c.469T>C (p.Phe157Leu)	G6PC2 (F157L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097737	NM_021176.3(G6PC2):c.489T>G (p.Ser163Arg)	G6PC2 (S163R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274564	NM_021176.3(G6PC2):c.568G>T (p.Ala190Ser)	G6PC2 (A190S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041171	NM_021176.3(G6PC2):c.627G>A (p.Lys209=)	G6PC2	Single nucleotide variant (3 prime UTR variant +1 more)	G6PC2-related disorder	GLikely benign
Select item 3041913	NM_021176.3(G6PC2):c.699G>A (p.Leu233=)	G6PC2	Single nucleotide variant (3 prime UTR variant +1 more)	G6PC2-related disorder	GLikely benign
Select item 548513	NM_021176.3(G6PC2):c.847C>T (p.Arg283Ter)	G6PC2 (R283*)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2274606	NM_021176.3(G6PC2):c.873C>A (p.Ser291Arg)	G6PC2 (S291R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3280329	NM_021176.3(G6PC2):c.887G>A (p.Cys296Tyr)	G6PC2 (C296Y)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2293452	NM_021176.3(G6PC2):c.946G>A (p.Glu316Lys)	G6PC2 (E316K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3097738	NM_021176.3(G6PC2):c.961T>G (p.Tyr321Asp)	G6PC2 (Y321D)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2223090	NM_021176.3(G6PC2):c.968T>A (p.Leu323Gln)	G6PC2 (L323Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3044109	NM_021176.3(G6PC2):c.970T>C (p.Ser324Pro)	G6PC2 (S324P)	Single nucleotide variant (3 prime UTR variant +1 more)	G6PC2-related disorder	GBenign
Select item 3059418	NM_021176.3(G6PC2):c.1025C>G (p.Ser342Cys)	G6PC2 (S342C)	Single nucleotide variant (3 prime UTR variant +1 more)	G6PC2-related disorder	GBenign
Select item 2334289	NM_021176.3(G6PC2):c.1030C>G (p.His344Asp)	G6PC2 (H344D)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2492306	NM_021176.3(G6PC2):c.1035G>A (p.Met345Ile)	G6PC2 (M345I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3062662	GRCh37/hg19 2q24.3-31.1(chr2:165813403-169865235)x1	ABCB11, B3GALT1 +14 more	Copy number loss	not specified	GPathogenic
Select item 3062617	GRCh37/hg19 2q24.2-31.1(chr2:162692199-174452488)x1	ABCB11, B3GALT1 +57 more	Copy number loss	not specified	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1339653	GRCh37/hg19 2q24.2-31.1(chr2:160347642-174075851)x1	METTL8, PSMD14 +67 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 981210	GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1	ABCB11, AGPS +97 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 687517	GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1	ABCB11, AGPS +125 more	Copy number loss	not provided	GPathogenic
Select item 493569	GRCh37/hg19 2q24.3-31.1(chr2:165173620-169779326)x1	CSRNP3, G6PC2 +16 more	Copy number loss	not provided	GLikely pathogenic
Select item 443256	GRCh37/hg19 2q31.1(chr2:169727951-170825165)x1	ABCB11, BBS5 +13 more	Copy number loss	See cases	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic
Select item 187824	GRCh37/hg19 2q24.3-31.1(chr2:167996718-170671886)x1	CERS6, SSB +17 more	Copy number loss	See cases	GLikely pathogenic

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Items: 39