"GeneDx"[submitter] AND "PIH1D2"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 674119	NM_001931.5(DLAT):c.1515-214G>A	DLAT, PIH1D2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199003	NM_001931.5(DLAT):c.1515-93A>T	DLAT, PIH1D2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179224	NM_001931.5(DLAT):c.1515-51C>T	DLAT, PIH1D2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 510907	NM_001931.5(DLAT):c.1542G>A (p.Ala514=)	DLAT, PIH1D2	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E2 deficiency +2 more	GLikely benign
Select item 1211510	NM_001931.5(DLAT):c.1598G>A (p.Gly533Glu)	DLAT, PIH1D2 (G379E +12 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1305220	NM_001931.5(DLAT):c.1621G>A (p.Val541Ile)	DLAT, PIH1D2 (V387I +12 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 785773	NM_001931.5(DLAT):c.1636A>G (p.Thr546Ala)	DLAT, PIH1D2 (T490A +12 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 512400	NM_001931.5(DLAT):c.1677+8A>G	DLAT, PIH1D2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 559128	NM_001931.5(DLAT):c.1678-32_1678-31insAA	DLAT, PIH1D2	Insertion (intron variant)	not provided	GBenign
Select item 387127	NM_001931.5(DLAT):c.1678-12T>C	DLAT, PIH1D2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 302462	NM_001931.5(DLAT):c.1692G>A (p.Thr564=)	DLAT, PIH1D2	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E2 deficiency +1 more	GLikely benign
Select item 1251878	NM_001931.5(DLAT):c.1815-42A>G	DLAT, PIH1D2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 384239	NM_001931.5(DLAT):c.1815-17T>G	DLAT, PIH1D2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 382218	NM_001931.5(DLAT):c.1815-15T>C	DLAT, PIH1D2	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E2 deficiency +1 more	GBenign/Likely benign
Select item 1238307	NM_001931.5(DLAT):c.*96C>A	DLAT, PIH1D2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign