"GeneDx"[submitter] AND "GPLD1"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151607	GRCh38/hg38 6p22.3(chr6:24281919-24479832)x1	DCDC2, GPLD1 +5 more	Copy number loss	See cases	GUncertain significance
Select item 1191435	NC_000006.12:g.24494624T>C	ALDH5A1, GPLD1	Single nucleotide variant	not provided	GLikely benign
Select item 1276556	NC_000006.12:g.24494696C>T	ALDH5A1, GPLD1	Single nucleotide variant	not provided	GBenign
Select item 1281626	NC_000006.12:g.24494747C>G	ALDH5A1, GPLD1	Single nucleotide variant	not provided	GBenign
Select item 1233201	NC_000006.12:g.24494776C>T	ALDH5A1, GPLD1	Single nucleotide variant	not provided	GBenign
Select item 1282291	NC_000006.12:g.24494822C>G	ALDH5A1, GPLD1	Single nucleotide variant	not provided	GBenign
Select item 1199105	NC_000006.12:g.24494888C>T	ALDH5A1, GPLD1	Single nucleotide variant	not provided	GLikely benign
Select item 288703	NM_001080.3(ALDH5A1):c.10T>G (p.Cys4Gly)	ALDH5A1, GPLD1 +1 more (C4G)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 459979	NM_001080.3(ALDH5A1):c.13A>G (p.Ile5Val)	ALDH5A1, GPLD1 +1 more (I5V)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency +3 more	GConflicting classifications of pathogenicity
Select item 459983	NM_001080.3(ALDH5A1):c.18G>T (p.Trp6Cys)	ALDH5A1, GPLD1 +1 more (W6C)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency +1 more	GBenign/Likely benign
Select item 837293	NM_001080.3(ALDH5A1):c.20T>G (p.Leu7Arg)	ALDH5A1, GPLD1 +1 more (L7R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1095033	NM_001080.3(ALDH5A1):c.22C>T (p.Arg8Trp)	ALDH5A1, GPLD1 +1 more (R8W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 657214	NM_001080.3(ALDH5A1):c.28T>A (p.Cys10Ser)	ALDH5A1, GPLD1 +1 more (C10S)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency +1 more	GUncertain significance
Select item 1075244	NM_001080.3(ALDH5A1):c.34dup (p.Ala12fs)	GPLD1, LOC129995978 +1 more (A12fs)	Duplication (frameshift variant)	Succinate-semialdehyde dehydrogenase deficiency +1 more	GPathogenic
Select item 597221	NM_001080.3(ALDH5A1):c.32G>A (p.Gly11Glu)	ALDH5A1, GPLD1 +1 more (G11E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1058384	NM_001080.3(ALDH5A1):c.37C>T (p.Arg13Trp)	ALDH5A1, GPLD1 +1 more (R13W)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency +1 more	GUncertain significance
Select item 1306020	NM_001080.3(ALDH5A1):c.46G>A (p.Gly16Arg)	ALDH5A1, GPLD1 +1 more (G16R)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency +1 more	GUncertain significance
Select item 848219	NM_001080.3(ALDH5A1):c.79C>G (p.Arg27Gly)	ALDH5A1, GPLD1 +1 more (R27G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1710792	NM_001080.3(ALDH5A1):c.98C>T (p.Pro33Leu)	ALDH5A1, GPLD1 +1 more (P33L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 596498	NM_001080.3(ALDH5A1):c.102C>G (p.Ala34=)	ALDH5A1, GPLD1 +1 more	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 285783	NM_001080.3(ALDH5A1):c.106G>C (p.Gly36Arg)	GPLD1, LOC129995978 +1 more (G36R)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency +2 more	GBenign
Select item 501383	NM_001080.3(ALDH5A1):c.113C>T (p.Ala38Val)	ALDH5A1, GPLD1 +1 more (A38V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 356126	NM_001080.3(ALDH5A1):c.130C>G (p.Leu44Val)	ALDH5A1, GPLD1 +1 more (L44V)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency +1 more	GBenign/Likely benign
Select item 724868	NM_001080.3(ALDH5A1):c.175C>T (p.Leu59=)	ALDH5A1, GPLD1 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 595499	NM_001080.3(ALDH5A1):c.183C>G (p.Thr61=)	ALDH5A1, GPLD1 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3343815	NM_001080.3(ALDH5A1):c.271G>A (p.Ala91Thr)	ALDH5A1, GPLD1 +1 more (A91T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 449408	NM_001080.3(ALDH5A1):c.278G>T (p.Cys93Phe)	ALDH5A1, GPLD1 +1 more (C93F)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency +1 more	GPathogenic

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Items: 27