BPGM[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129998995, LOC129998996 +2212 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	LOC129999548, LOC129999549 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	AASS, AHCYL2 +492 more	Copy number loss	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	CADPS2, CALD1 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	TMEM139-AS1, TMEM140 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	MIR5707, MIR595 +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	LOC123956245, LOC123956246 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	LOC285889, LOC349160 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	ABCB8, ABCF2 +1019 more	Copy number gain	See cases	GPathogenic
Select item 12092	NM_001724.5(BPGM):c.61del (p.Arg21fs)	BPGM (R21fs)	Deletion (frameshift variant)	Deficiency of bisphosphoglycerate mutase	GPathogenic
Select item 2920936	NM_001724.5(BPGM):c.62G>A (p.Arg21His)	BPGM (R21H)	Single nucleotide variant (missense variant)	Deficiency of bisphosphoglycerate mutase	GUncertain significance
Select item 1399352	NM_001724.5(BPGM):c.182A>C (p.Asn61Thr)	BPGM (N61T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 973177	NM_001724.5(BPGM):c.185G>A (p.Arg62Gln)	BPGM (R62Q)	Single nucleotide variant (missense variant)	Deficiency of bisphosphoglycerate mutase	GPathogenic
Select item 2081153	NM_001724.5(BPGM):c.186G>A (p.Arg62=)	BPGM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622710	NM_001724.5(BPGM):c.247A>T (p.Ser83Cys)	BPGM (S83C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 12091	NM_001724.5(BPGM):c.268C>T (p.Arg90Cys)	BPGM (R90C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 973178	NM_001724.5(BPGM):c.269G>A (p.Arg90His)	BPGM (R90H)	Single nucleotide variant (missense variant)	Deficiency of bisphosphoglycerate mutase	GPathogenic
Select item 2384394	NM_001724.5(BPGM):c.289G>C (p.Gly97Arg)	BPGM (G97R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2008074	NM_001724.5(BPGM):c.313T>G (p.Leu105Val)	BPGM (L105V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1535791	NM_001724.5(BPGM):c.369G>A (p.Pro123=)	BPGM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2390184	NM_001724.5(BPGM):c.388C>T (p.His130Tyr)	BPGM (H130Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597882	NM_001724.5(BPGM):c.419G>A (p.Arg140Gln)	BPGM (R140Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2189562	NM_001724.5(BPGM):c.435C>T (p.Cys145=)	BPGM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2439542	NM_001724.5(BPGM):c.461G>A (p.Arg154Gln)	BPGM (R154Q)	Single nucleotide variant (missense variant)	Deficiency of bisphosphoglycerate mutase	GUncertain significance
Select item 2759959	NM_001724.5(BPGM):c.486G>A (p.Leu162=)	BPGM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2215065	NM_001724.5(BPGM):c.493C>T (p.Leu165Phe)	BPGM (L165F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329469	NM_001724.5(BPGM):c.512A>G (p.Glu171Gly)	BPGM (E171G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613361	NM_001724.5(BPGM):c.515G>T (p.Arg172Met)	BPGM (R172M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2180069	NM_001724.5(BPGM):c.526G>A (p.Glu176Lys)	BPGM (E176K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2162801	NM_001724.5(BPGM):c.546C>T (p.Thr182=)	BPGM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999467, LOC129999468 +944 more	Copy number loss	See cases	GPathogenic
Select item 2965826	NM_001724.5(BPGM):c.639T>C (p.Pro213=)	BPGM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2704279	NM_001724.5(BPGM):c.679C>T (p.Arg227Cys)	BPGM (R227C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3062992	GRCh37/hg19 7q31.31-33(chr7:120582003-137699953)x1	AASS, AGBL3 +100 more	Copy number loss	not specified	GPathogenic
Select item 2425346	NC_000007.13:g.(?_130781014)_(150301047_?)del	ACTR3C, ADCK2 +141 more	Deletion	not provided	GPathogenic
Select item 1807754	GRCh37/hg19 7q32.3-36.1(chr7:131779213-149042734)x1	RAB19, RNY1 +123 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527402	GRCh37/hg19 7q33(chr7:134128369-134656514)	AKR1B1, AKR1B10 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1527395	GRCh37/hg19 7q32.1-34(chr7:127295698-139524358)	CHCHD3, CHRM2 +88 more	Copy number loss	not specified	GPathogenic
Select item 1527394	GRCh37/hg19 7q31.33-33(chr7:124103982-134693590)	BPGM, CALD1 +65 more	Copy number loss	not specified	GPathogenic
Select item 1341257	GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3	ABCB8, ABCF2 +186 more	Copy number gain	not provided	GPathogenic
Select item 1330183	GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1	ADCK2, AGBL3 +105 more	Copy number loss	Small face +7 more	GPathogenic
Select item 816507	GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1	ABCB8, ABCF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 688878	GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3	OR2A25, OR2A42 +192 more	Copy number gain	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 685463	GRCh37/hg19 7q33(chr7:134341813-134366849)x1	BPGM	Copy number loss	not provided	GPathogenic
Select item 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic
Select item 617479	Single allele	MIR183, PARP12 +74 more	Complex	Renal transitional cell carcinoma	GLikely pathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563417	GRCh37/hg19 7q33(chr7:133230189-137972605)x1	AKR1B10, STRA8 +24 more	Copy number loss	not provided	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395363	GRCh37/hg19 7q32.3-34(chr7:131642114-139107211)x1	AGBL3, AKR1B1 +38 more	Copy number loss	See cases	GPathogenic

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Items: 58