ClinVar for MedGen (Select 904191) - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2689847	NM_013328.4(PYCR2):c.50G>C (p.Arg17Pro)	PYCR2 (R17P)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 10	GUncertain significance
Select item 2682490	NM_013328.4(PYCR2):c.577G>A (p.Val193Met)	PYCR2 (V119M +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 10	GLikely pathogenic
Select item 2435308	NM_013328.4(PYCR2):c.748T>G (p.Phe250Val)	PYCR2 (F176V +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 10	GUncertain significance
Select item 1916025	NM_013328.4(PYCR2):c.559G>A (p.Ala187Thr)	PYCR2 (A113T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1357942	NM_013328.4(PYCR2):c.309del (p.Val104fs)	PYCR2 (V104fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1334633	NM_013328.4(PYCR2):c.676C>T (p.Gln226Ter)	PYCR2 (Q152* +1 more)	Single nucleotide variant (nonsense)	Hypomyelinating leukodystrophy 10	GLikely pathogenic
Select item 1324974	NM_013328.4(PYCR2):c.318+1G>A	PYCR2	Single nucleotide variant (splice donor variant)	Hypomyelinating leukodystrophy 10	GLikely pathogenic
Select item 1323507	NM_013328.4(PYCR2):c.354dup (p.Arg119fs)	PYCR2 (R119fs)	Duplication (frameshift variant +1 more)	Hypomyelinating leukodystrophy 10	GPathogenic
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 1167877	NM_013328.4(PYCR2):c.797+9A>C	PYCR2	Single nucleotide variant (intron variant)	Hypomyelinating leukodystrophy 10 +1 more	GBenign
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 1032575	NM_013328.4(PYCR2):c.678G>T (p.Gln226His)	PYCR2 (Q152H +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 10	GUncertain significance
Select item 1031778	NM_013328.4(PYCR2):c.67+6C>A	PYCR2	Single nucleotide variant (intron variant)	Hypomyelinating leukodystrophy 10	GUncertain significance
Select item 992853	NM_013328.4(PYCR2):c.752G>A (p.Arg251His)	PYCR2 (R177H +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 10 +1 more	GConflicting classifications of pathogenicity
Select item 929953	NM_013328.4(PYCR2):c.402_403del (p.Tyr135fs)	PYCR2 (Y135fs)	Microsatellite (frameshift variant +1 more)	Hypomyelinating leukodystrophy 10	GLikely pathogenic
Select item 872905	NM_013328.4(PYCR2):c.400G>A (p.Val134Met)	PYCR2 (V134M)	Single nucleotide variant (missense variant +1 more)	Hypomyelinating leukodystrophy 10	GLikely pathogenic
Select item 872904	NM_013328.4(PYCR2):c.257T>G (p.Val86Gly)	PYCR2 (V86G)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 10	GLikely pathogenic
Select item 800754	NM_013328.4(PYCR2):c.529G>A (p.Gly177Arg)	PYCR2 (G177R)	Single nucleotide variant (missense variant +1 more)	Hypomyelinating leukodystrophy 10	GLikely pathogenic
Select item 770123	NM_013328.4(PYCR2):c.924C>G (p.Leu308=)	PYCR2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 545033	NM_013328.4(PYCR2):c.138+1G>T	PYCR2	Single nucleotide variant (splice donor variant)	Hypomyelinating leukodystrophy 10	GLikely pathogenic
Select item 436454	NM_013328.4(PYCR2):c.139-2A>C	PYCR2	Single nucleotide variant (splice acceptor variant)	Hypomyelinating leukodystrophy 10	GLikely pathogenic
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 391197	NM_013328.4(PYCR2):c.160C>T (p.Arg54Cys)	PYCR2 (R54C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
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 254250	NM_013328.4(PYCR2):c.694T>G (p.Cys232Gly)	PYCR2 (C232G +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 10	GPathogenic
Select item 254249	NM_013328.4(PYCR2):c.595C>T (p.Arg199Trp)	PYCR2 (R199W +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 10	GLikely pathogenic
Select item 254248	NM_013328.4(PYCR2):c.773T>C (p.Val258Ala)	PYCR2 (V184A +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 10	GLikely pathogenic
Select item 254247	NM_013328.4(PYCR2):c.796C>T (p.Arg266Ter)	PYCR2 (R266* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 192394	NM_013328.4(PYCR2):c.751C>T (p.Arg251Cys)	PYCR2 (R251C +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 10	GPathogenic
Select item 192393	NM_013328.4(PYCR2):c.355C>T (p.Arg119Cys)	PYCR2 (R119C)	Single nucleotide variant (missense variant +1 more)	Hypomyelinating leukodystrophy 10	GPathogenic

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Items: 30