PYCR2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 147449	GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)x1	ACBD3, ACBD3-AS1 +287 more	Copy number loss	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC440742, LYPD8 +955 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	ABCB10, ACBD3 +953 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932658, LOC129932659 +950 more	Copy number gain	See cases	GPathogenic
Select item 155156	GRCh38/hg38 1q42.12-42.13(chr1:225382172-230418801)x1	ABCB10, ACBD3 +309 more	Copy number loss	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 more	Copy number gain	See cases	GPathogenic
Select item 730211	NM_013328.4(PYCR2):c.941C>G (p.Ala314Gly)	PYCR2 (A240G +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 770123	NM_013328.4(PYCR2):c.924C>G (p.Leu308=)	PYCR2	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 10 +2 more	GBenign/Likely benign
Select item 1166246	NM_013328.4(PYCR2):c.918G>A (p.Gly306=)	PYCR2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2274359	NM_013328.4(PYCR2):c.898C>G (p.Leu300Val)	PYCR2 (L300V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2201453	NM_013328.4(PYCR2):c.877G>T (p.Glu293Ter)	PYCR2 (E293* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2356229	NM_013328.4(PYCR2):c.866G>A (p.Arg289Lys)	PYCR2 (R215K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3311861	NM_013328.4(PYCR2):c.841G>A (p.Ala281Thr)	PYCR2 (A207T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1713832	NM_013328.4(PYCR2):c.817G>C (p.Asp273His)	PYCR2 (D199H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1571197	NM_013328.4(PYCR2):c.801G>A (p.Glu267=)	PYCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1345608	NM_013328.4(PYCR2):c.797+16G>A	PYCR2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 2113420	NM_013328.4(PYCR2):c.786T>G (p.Cys262Trp)	PYCR2 (C188W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2202991	NM_013328.4(PYCR2):c.779CCT[1] (p.Ser261del)	PYCR2 (S261del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
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 729355	NM_013328.4(PYCR2):c.762C>T (p.Leu254=)	PYCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 1923478	NM_013328.4(PYCR2):c.747C>T (p.Gly249=)	PYCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1377258	NM_013328.4(PYCR2):c.745G>C (p.Gly249Arg)	PYCR2 (G249R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2068504	NM_013328.4(PYCR2):c.711C>A (p.Ala237=)	PYCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2170741	NM_013328.4(PYCR2):c.690T>C (p.Asn230=)	PYCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3255598	NM_013328.4(PYCR2):c.686A>G (p.Asp229Gly)	PYCR2 (D155G +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 10	GLikely pathogenic
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 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 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 2639968	NM_013328.4(PYCR2):c.660G>A (p.Ser220=)	PYCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 992852	NM_013328.4(PYCR2):c.647T>G (p.Met216Arg)	PYCR2 (M142R +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1718967	NM_013328.4(PYCR2):c.643A>G (p.Lys215Glu)	PYCR2 (K141E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 716064	NM_013328.4(PYCR2):c.634-3T>C	PYCR2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1671336	NM_013328.4(PYCR2):c.634-13C>G	PYCR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975468	NM_013328.4(PYCR2):c.631C>T (p.Leu211=)	PYCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1944610	NM_013328.4(PYCR2):c.620C>T (p.Ala207Val)	PYCR2 (A207V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2843864	NM_013328.4(PYCR2):c.618_619del (p.Ala207fs)	PYCR2 (A133fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 788213	NM_013328.4(PYCR2):c.615C>T (p.Leu205=)	PYCR2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2419891	NM_013328.4(PYCR2):c.607A>G (p.Ile203Val)	PYCR2 (I129V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1583403	NM_013328.4(PYCR2):c.601C>T (p.Leu201=)	PYCR2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1446941	NM_013328.4(PYCR2):c.598C>T (p.Arg200Cys)	PYCR2 (R126C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 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 1922587	NM_013328.4(PYCR2):c.579G>A (p.Val193=)	PYCR2	Single nucleotide variant (synonymous variant)	not provided	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 1603045	NM_013328.4(PYCR2):c.573T>G (p.Gly191=)	PYCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1916025	NM_013328.4(PYCR2):c.559G>A (p.Ala187Thr)	PYCR2 (A113T +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 10 +1 more	GUncertain significance
Select item 2183657	NM_013328.4(PYCR2):c.558C>T (p.Asp186=)	PYCR2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2980906	NM_013328.4(PYCR2):c.547A>G (p.Met183Val)	PYCR2 (M183V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3150159	NM_013328.4(PYCR2):c.541G>T (p.Ala181Ser)	PYCR2 (A181S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1990336	NM_013328.4(PYCR2):c.541-12G>A	PYCR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1909210	NM_013328.4(PYCR2):c.540+20G>A	PYCR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1640827	NM_013328.4(PYCR2):c.540+19C>T	PYCR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2111601	NM_013328.4(PYCR2):c.540+18T>G	PYCR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 951746	NM_013328.4(PYCR2):c.540+2T>G	PYCR2	Single nucleotide variant (intron variant +1 more)	not provided	GPathogenic
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 1535237	NM_013328.4(PYCR2):c.528C>T (p.Ser176=)	PYCR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1619911	NM_013328.4(PYCR2):c.525C>G (p.Gly175=)	PYCR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 623728	NM_013328.4(PYCR2):c.513G>A (p.Thr171=)	PYCR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1522481	NM_013328.4(PYCR2):c.508G>A (p.Val170Ile)	PYCR2 (V170I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 757727	NM_013328.4(PYCR2):c.507C>T (p.Ala169=)	PYCR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1945147	NM_013328.4(PYCR2):c.501C>T (p.Ile167=)	PYCR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1970365	NM_013328.4(PYCR2):c.484G>C (p.Val162Leu)	PYCR2 (V162L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2023619	NM_013328.4(PYCR2):c.466G>T (p.Val156Leu)	PYCR2 (V156L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 813548	NM_013328.4(PYCR2):c.437G>A (p.Gly146Glu)	PYCR2 (G146E)	Single nucleotide variant (missense variant +1 more)	Microcephaly	GUncertain significance
Select item 1988885	NM_013328.4(PYCR2):c.427G>A (p.Val143Met)	PYCR2 (V143M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1530186	NM_013328.4(PYCR2):c.417C>T (p.Thr139=)	PYCR2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2352604	NM_013328.4(PYCR2):c.416C>G (p.Thr139Ser)	PYCR2 (T139S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1440722	NM_013328.4(PYCR2):c.410C>T (p.Thr137Met)	PYCR2 (T137M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 3255597	NM_013328.4(PYCR2):c.398_399del (p.Thr133fs)	PYCR2 (T133fs)	Deletion (frameshift variant +1 more)	Hypomyelinating leukodystrophy 10	GLikely pathogenic
Select item 767754	NM_013328.4(PYCR2):c.399A>G (p.Thr133=)	PYCR2	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1389219	NM_013328.4(PYCR2):c.397A>C (p.Thr133Pro)	PYCR2 (T133P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1323507	NM_013328.4(PYCR2):c.354dup (p.Arg119fs)	PYCR2 (R119fs)	Duplication (frameshift variant +1 more)	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
Select item 2013983	NM_013328.4(PYCR2):c.346A>G (p.Lys116Glu)	PYCR2 (K116E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2747071	NM_013328.4(PYCR2):c.334C>T (p.Gln112Ter)	PYCR2 (Q112*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
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 1903788	NM_013328.4(PYCR2):c.319-20G>A	MIR6741, PYCR2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3042875	NM_013328.4(PYCR2):c.318+6C>T	PYCR2	Single nucleotide variant (intron variant)	PYCR2-related disorder	GLikely benign
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 1357942	NM_013328.4(PYCR2):c.309del (p.Val104fs)	PYCR2 (V104fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic

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