"GeneDx"[submitter] AND "PYCR2"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 1166899	NM_013328.4(PYCR2):c.797+14G>A	PYCR2	Single nucleotide variant (intron variant)	Hypomyelinating leukodystrophy 10 +1 more	GBenign
Select item 1167877	NM_013328.4(PYCR2):c.797+9A>C	PYCR2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 254247	NM_013328.4(PYCR2):c.796C>T (p.Arg266Ter)	PYCR2 (R266* +1 more)	Single nucleotide variant (nonsense)	Hypomyelinating leukodystrophy 10 +1 more	GPathogenic
Select item 286401	NM_013328.4(PYCR2):c.757_758dup (p.Leu254fs)	PYCR2 (L180fs +1 more)	Microsatellite (frameshift variant)	Hypomyelinating leukodystrophy 10 +1 more	GPathogenic/Likely pathogenic
Select item 1303673	NM_013328.4(PYCR2):c.675C>G (p.Cys225Trp)	PYCR2 (C151W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2169496	NM_013328.4(PYCR2):c.596G>A (p.Arg199Gln)	PYCR2 (R125Q +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3253569	NM_013328.4(PYCR2):c.374C>A (p.Pro125His)	PYCR2 (P125H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 429628	NM_013328.4(PYCR2):c.356G>A (p.Arg119His)	PYCR2 (R119H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 489137	NM_013328.4(PYCR2):c.319-1G>C	MIR6741, PYCR2	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GPathogenic/Likely pathogenic
Select item 391197	NM_013328.4(PYCR2):c.160C>T (p.Arg54Cys)	PYCR2 (R54C)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1188580	NM_013328.4(PYCR2):c.40G>C (p.Ala14Pro)	PYCR2 (A14P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic