ClinVar for Gene (Select 283209) - ClinVar

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Links from Gene

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3211859	NM_173582.6(PGM2L1):c.641A>G (p.Asn214Ser)	PGM2L1 (N214S)	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 3211856	NM_173582.6(PGM2L1):c.1655G>A (p.Ser552Asn)	PGM2L1 (S552N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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	ACTN3, ACY3 +362 more	Copy number gain	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 2548644	NM_173582.6(PGM2L1):c.1027C>T (p.Leu343Phe)	PGM2L1 (L343F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2460318	NM_173582.6(PGM2L1):c.425A>G (p.Asp142Gly)	PGM2L1 (D142G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 2426953	NC_000011.9:g.(?_71146421)_(75283128_?)dup	ANAPC15, ARAP1 +63 more	Duplication	3-methylglutaconic aciduria, type VIIB	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 2360802	NM_173582.6(PGM2L1):c.1518G>T (p.Arg506Ser)	PGM2L1 (R506S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2303607	NM_173582.6(PGM2L1):c.310T>C (p.Ser104Pro)	PGM2L1 (S104P)	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 2283908	NM_173582.6(PGM2L1):c.1303G>T (p.Glu435Ter)	PGM2L1 (E435*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
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 2230965	NM_173582.6(PGM2L1):c.1310T>C (p.Ile437Thr)	PGM2L1 (I437T)	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 2201077	NM_173582.6(PGM2L1):c.68del (p.Pro23fs)	PGM2L1 (P23fs)	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 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1294901	NM_173582.6(PGM2L1):c.1037+130A>G	PGM2L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287924	NM_173582.6(PGM2L1):c.1633-162C>T	PGM2L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285855	NM_173582.6(PGM2L1):c.*14T>C	PGM2L1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1279361	NM_173582.6(PGM2L1):c.41T>C (p.Leu14Pro)	PGM2L1 (L14P)	Single nucleotide variant (missense 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 1268532	NM_173582.6(PGM2L1):c.749+70_749+79del	PGM2L1	Microsatellite (intron variant)	not provided	GBenign
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 1244011	NM_173582.6(PGM2L1):c.555+37G>A	PGM2L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241999	NM_173582.6(PGM2L1):c.556-200G>A	PGM2L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241016	NM_173582.6(PGM2L1):c.940-57G>A	PGM2L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239939	NM_173582.6(PGM2L1):c.386+145A>C	PGM2L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238736	NM_173582.6(PGM2L1):c.111+146C>T	PGM2L1	Single nucleotide variant (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 1238287	NM_173582.6(PGM2L1):c.1591G>A (p.Val531Ile)	PGM2L1 (V531I)	Single nucleotide variant (missense 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 1232198	NM_173582.6(PGM2L1):c.1767-76dup	PGM2L1	Duplication (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 1221198	NM_173582.6(PGM2L1):c.1313-116T>C	PGM2L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1060646	NM_173582.6(PGM2L1):c.1115del (p.Asn372fs)	PGM2L1 (N372fs)	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 1008756	NM_173582.6(PGM2L1):c.1282G>T (p.Glu428Ter)	PGM2L1 (E428*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 997825	Single allele	ACER3, ACP2 +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)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	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 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 56