PGM2L1[gene] - ClinVar

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

Search results

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	See cases	GPathogenic
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 1285855	NM_173582.6(PGM2L1):c.*14T>C	PGM2L1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1232198	NM_173582.6(PGM2L1):c.1767-76dup	PGM2L1	Duplication (intron variant)	not provided	GBenign
Select item 1238575	NM_173582.6(PGM2L1):c.1710T>C (p.Ser570=)	PGM2L1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3211856	NM_173582.6(PGM2L1):c.1655G>A (p.Ser552Asn)	PGM2L1 (S552N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1287924	NM_173582.6(PGM2L1):c.1633-162C>T	PGM2L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238287	NM_173582.6(PGM2L1):c.1591G>A (p.Val531Ile)	PGM2L1 (V531I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3211855	NM_173582.6(PGM2L1):c.1586G>A (p.Arg529Gln)	PGM2L1 (R529Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3211854	NM_173582.6(PGM2L1):c.1585C>T (p.Arg529Trp)	PGM2L1 (R529W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3034165	NM_173582.6(PGM2L1):c.1565C>T (p.Thr522Ile)	PGM2L1 (T522I)	Single nucleotide variant (missense variant)	PGM2L1-related disorder	GLikely benign
Select item 2443753	NM_173582.6(PGM2L1):c.1548_1549del (p.Pro517fs)	PGM2L1 (P517fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities	GPathogenic
Select item 3306012	NM_173582.6(PGM2L1):c.1518G>C (p.Arg506Ser)	PGM2L1 (R506S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360802	NM_173582.6(PGM2L1):c.1518G>T (p.Arg506Ser)	PGM2L1 (R506S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306013	NM_173582.6(PGM2L1):c.1357G>A (p.Ala453Thr)	PGM2L1 (A453T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1221198	NM_173582.6(PGM2L1):c.1313-116T>C	PGM2L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236874	NM_173582.6(PGM2L1):c.1312+22C>A	PGM2L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2230965	NM_173582.6(PGM2L1):c.1310T>C (p.Ile437Thr)	PGM2L1 (I437T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283908	NM_173582.6(PGM2L1):c.1303G>T (p.Glu435Ter)	PGM2L1 (E435*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 1008756	NM_173582.6(PGM2L1):c.1282G>T (p.Glu428Ter)	PGM2L1 (E428*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2578663	NM_173582.6(PGM2L1):c.1199AAG[1] (p.Glu401del)	PGM2L1 (E401del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1060646	NM_173582.6(PGM2L1):c.1115del (p.Asn372fs)	PGM2L1 (N372fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2144201	NM_173582.6(PGM2L1):c.1040_1041del (p.Gly347fs)	PGM2L1 (G347fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1294901	NM_173582.6(PGM2L1):c.1037+130A>G	PGM2L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2548644	NM_173582.6(PGM2L1):c.1027C>T (p.Leu343Phe)	PGM2L1 (L343F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372478	NM_173582.6(PGM2L1):c.1002T>G (p.Asp334Glu)	PGM2L1 (D334E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1241016	NM_173582.6(PGM2L1):c.940-57G>A	PGM2L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2474233	NM_173582.6(PGM2L1):c.884A>G (p.Asp295Gly)	PGM2L1 (D295G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1268532	NM_173582.6(PGM2L1):c.749+70_749+79del	PGM2L1	Microsatellite (intron variant)	not provided	GBenign
Select item 3211860	NM_173582.6(PGM2L1):c.735G>T (p.Lys245Asn)	PGM2L1 (K245N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294948	NM_173582.6(PGM2L1):c.710G>A (p.Arg237Lys)	PGM2L1 (R237K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3211859	NM_173582.6(PGM2L1):c.641A>G (p.Asn214Ser)	PGM2L1 (N214S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1241999	NM_173582.6(PGM2L1):c.556-200G>A	PGM2L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231895	NM_173582.6(PGM2L1):c.555+62T>C	PGM2L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244011	NM_173582.6(PGM2L1):c.555+37G>A	PGM2L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3306011	NM_173582.6(PGM2L1):c.446C>T (p.Ser149Leu)	PGM2L1 (S149L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460318	NM_173582.6(PGM2L1):c.425A>G (p.Asp142Gly)	PGM2L1 (D142G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1239939	NM_173582.6(PGM2L1):c.386+145A>C	PGM2L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270537	NM_173582.6(PGM2L1):c.386+30T>C	PGM2L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2280522	NM_173582.6(PGM2L1):c.356G>T (p.Gly119Val)	PGM2L1 (G119V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3211857	NM_173582.6(PGM2L1):c.353G>A (p.Arg118Gln)	PGM2L1 (R118Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303607	NM_173582.6(PGM2L1):c.310T>C (p.Ser104Pro)	PGM2L1 (S104P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1259425	NM_173582.6(PGM2L1):c.279+76G>A	PGM2L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249051	NM_173582.6(PGM2L1):c.279+40A>C	PGM2L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2443756	NM_173582.6(PGM2L1):c.172C>T (p.Arg58Ter)	PGM2L1	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities	GPathogenic
Select item 1238736	NM_173582.6(PGM2L1):c.111+146C>T	PGM2L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2201077	NM_173582.6(PGM2L1):c.68del (p.Pro23fs)	PGM2L1 (P23fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1060644	NM_173582.6(PGM2L1):c.51del (p.Tyr18fs)	PGM2L1 (Y18fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1279361	NM_173582.6(PGM2L1):c.41T>C (p.Leu14Pro)	PGM2L1 (L14P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2328962	NM_173582.6(PGM2L1):c.29A>C (p.Asn10Thr)	PGM2L1 (N10T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220578	NM_173582.6(PGM2L1):c.19G>A (p.Gly7Arg)	PGM2L1 (G7R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2685411	GRCh37/hg19 11q13.4(chr11:72308632-74236530)x1	ARAP1, ARAP1-AS2 +25 more	Copy number loss	not provided	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2426953	NC_000011.9:g.(?_71146421)_(75283128_?)dup	ANAPC15, ARAP1 +63 more	Duplication	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 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

Search results

Items: 59