ClinVar for Gene (Select 5831) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243134	NC_000017.10:g.(?_79477716)_(80901020_?)dup	ACTG1, ALYREF +52 more	Duplication	not provided	GUncertain significance
Select item 3234764	NM_006907.4(PYCR1):c.35C>G (p.Ala12Gly)	PYCR1 (A12G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3150156	NM_006907.4(PYCR1):c.479C>T (p.Thr160Met)	PYCR1 (T187M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3069061	NM_006907.4(PYCR1):c.148del (p.Gly49_Val50insTer)	PYCR1	Deletion (nonsense)	Cutis laxa	GPathogenic
Select item 3057468	NM_006907.4(PYCR1):c.336G>T (p.Arg112=)	PYCR1	Single nucleotide variant (synonymous variant)	PYCR1-related disorder	GLikely benign
Select item 3005517	NM_006907.4(PYCR1):c.705T>C (p.Gly235=)	PYCR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3004326	NM_006907.4(PYCR1):c.139-9C>T	PYCR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998495	NM_006907.4(PYCR1):c.540+15G>C	PYCR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992448	NM_006907.4(PYCR1):c.291C>T (p.Ala97=)	PYCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985782	NM_006907.4(PYCR1):c.312T>C (p.Ile104=)	PYCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985036	NM_006907.4(PYCR1):c.519C>T (p.Leu173=)	PYCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982609	NM_006907.4(PYCR1):c.634-18C>A	PYCR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982564	NM_006907.4(PYCR1):c.395C>A (p.Ala132Asp)	PYCR1 (A132D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982385	NM_006907.4(PYCR1):c.197T>C (p.Leu66Pro)	PYCR1 (L66P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981706	NM_006907.4(PYCR1):c.798-20A>G	PYCR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975140	NM_006907.4(PYCR1):c.318+9G>A	PYCR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974838	NM_006907.4(PYCR1):c.432G>A (p.Glu144=)	PYCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974534	NM_006907.4(PYCR1):c.67+7C>T	PYCR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972443	NM_006907.4(PYCR1):c.68-11T>G	PYCR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971057	NM_006907.4(PYCR1):c.540+12G>A	PYCR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966292	NM_006907.4(PYCR1):c.319-17G>A	PYCR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962598	NM_006907.4(PYCR1):c.798-10G>A	PYCR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958596	NM_006907.4(PYCR1):c.435C>T (p.Asp145=)	PYCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957468	NM_006907.4(PYCR1):c.67+15G>C	PYCR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2897587	NM_006907.4(PYCR1):c.147G>C (p.Gly49=)	PYCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888244	NM_006907.4(PYCR1):c.378C>T (p.Val126=)	PYCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2882123	NM_006907.4(PYCR1):c.291_294dup (p.Val99fs)	PYCR1 (V126fs +1 more)	Microsatellite (frameshift variant)	Autosomal recessive cutis laxa type 2B	GLikely pathogenic
Select item 2871688	NM_006907.4(PYCR1):c.139-16C>G	PYCR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870937	NM_006907.4(PYCR1):c.139-16C>T	PYCR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2866004	NM_006907.4(PYCR1):c.798-13C>T	PYCR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2840833	NM_006907.4(PYCR1):c.486_517del (p.Glu163fs)	PYCR1 (E163fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2836430	NM_006907.4(PYCR1):c.386G>T (p.Arg129Leu)	PYCR1 (R129L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2809105	NM_006907.4(PYCR1):c.306C>T (p.Ser102=)	PYCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2807044	NM_006907.4(PYCR1):c.810C>T (p.Ser270=)	PYCR1 (H216Y)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2795734	NM_006907.4(PYCR1):c.749T>C (p.Phe250Ser)	PYCR1 (F277S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2782029	NM_006907.4(PYCR1):c.797+10del	PYCR1	Deletion (intron variant)	not provided	GBenign
Select item 2780865	NM_006907.4(PYCR1):c.68-8C>T	PYCR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2769988	NM_006907.4(PYCR1):c.260A>G (p.Glu87Gly)	PYCR1 (E87G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2730490	NM_006907.4(PYCR1):c.888A>G (p.Ala296=)	PYCR1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2721501	NM_006907.4(PYCR1):c.234C>T (p.Ile78=)	PYCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2718003	NM_006907.4(PYCR1):c.537C>T (p.Ala179=)	PYCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2715954	NM_006907.4(PYCR1):c.688_690del (p.Asn230del)	PYCR1 (N257del +2 more)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2705165	NM_006907.4(PYCR1):c.27C>T (p.Gly9=)	PYCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685609	GRCh37/hg19 17q25.3(chr17:79128754-80092824)x1	AATK, ACTG1 +41 more	Copy number loss	not provided	GLikely pathogenic
Select item 2648474	NM_006907.4(PYCR1):c.-28G>A	PYCR1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2634314	NM_006907.4(PYCR1):c.-49A>G	PYCR1	Single nucleotide variant (5 prime UTR variant +1 more)	PYCR1-related disorder	GUncertain significance
Select item 2613235	NM_006907.4(PYCR1):c.798G>A (p.Arg266=)	PYCR1 (G212R)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2582309	NM_006907.4(PYCR1):c.-378G>C	LOC130061991, PYCR1 (V8L)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive cutis laxa type 2B	GUncertain significance
Select item 2576941	NM_006907.4(PYCR1):c.931C>T (p.Arg311Cys)	PYCR1 (R280C +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2572601	NM_006907.4(PYCR1):c.386_387insCGCA (p.Glu130fs)	PYCR1 (E130fs +1 more)	Insertion (frameshift variant)	PYCR1-related de Barsy syndrome	GLikely pathogenic
Select item 2572397	NM_006907.4(PYCR1):c.770C>T (p.Ala257Val)	PYCR1 (A226V +2 more)	Single nucleotide variant (missense variant +1 more)	PYCR1-related de Barsy syndrome	GUncertain significance
Select item 2529044	NM_006907.4(PYCR1):c.369C>G (p.Asn123Lys)	PYCR1 (N150K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506337	NM_006907.4(PYCR1):c.321G>A (p.Lys107=)	PYCR1	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2494736	NM_006907.4(PYCR1):c.365C>G (p.Thr122Ser)	PYCR1 (T122S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486246	NM_006907.4(PYCR1):c.70G>T (p.Val24Phe)	PYCR1 (V24F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2446347	NM_006907.4(PYCR1):c.484G>T (p.Val162Leu)	PYCR1 (V162L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2445210	Single allele	FOXK2, GCGR +51 more	Deletion	See cases	GPathogenic
Select item 2435307	NM_006907.4(PYCR1):c.7G>T (p.Val3Leu)	PYCR1 (V30L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435306	NM_006907.4(PYCR1):c.103C>T (p.Pro35Ser)	PYCR1 (P35S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2428438	NM_006907.4(PYCR1):c.68-9T>A	PYCR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2425656	NC_000017.10:g.(?_79618104)_(79894690_?)dup	ALYREF, ANAPC11 +17 more	Duplication	not provided	GUncertain significance
Select item 2425655	NC_000017.10:g.(?_79891090)_(80333370_?)del	ASPSCR1, CCDC57 +17 more	Deletion	not provided	GPathogenic
Select item 2424500	NC_000017.10:g.(?_79477716)_(80900339_?)dup	MAFG, MCRIP1 +52 more	Duplication	not provided	GUncertain significance
Select item 2417537	NM_006907.4(PYCR1):c.160C>T (p.Pro54Ser)	PYCR1 (P54S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2323947	NM_006907.4(PYCR1):c.52G>A (p.Gly18Ser)	PYCR1 (G45S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312397	NM_006907.4(PYCR1):c.515G>A (p.Gly172Glu)	PYCR1 (G172E +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2308670	NM_006907.4(PYCR1):c.434A>G (p.Asp145Gly)	PYCR1 (D172G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289009	NM_006907.4(PYCR1):c.934A>C (p.Ser312Arg)	PYCR1 (S339R +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2267259	NM_006907.4(PYCR1):c.538T>C (p.Tyr180His)	PYCR1 (Y180H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2189851	NM_006907.4(PYCR1):c.39T>G (p.Phe13Leu)	PYCR1 (F40L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2178967	NM_006907.4(PYCR1):c.895G>A (p.Ala299Thr)	PYCR1 (A326T +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2160967	NM_006907.4(PYCR1):c.719A>G (p.His240Arg)	PYCR1 (H209R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2157170	NM_006907.4(PYCR1):c.252C>T (p.Ala84=)	PYCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2157138	NM_006907.4(PYCR1):c.250G>A (p.Ala84Thr)	PYCR1 (A111T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2135106	NM_006907.4(PYCR1):c.139-19C>T	PYCR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2118144	NM_006907.4(PYCR1):c.752G>T (p.Arg251Leu)	PYCR1 (R278L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2111650	NM_006907.4(PYCR1):c.67+6C>A	PYCR1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2108273	NM_006907.4(PYCR1):c.610C>T (p.Arg204Cys)	PYCR1 (R231C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2103391	NM_006907.4(PYCR1):c.949G>A (p.Gly317Ser)	PYCR1 (G344S +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2102128	NM_006907.4(PYCR1):c.135C>T (p.Leu45=)	PYCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2094166	NM_006907.4(PYCR1):c.624G>A (p.Gln208=)	PYCR1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2089832	NM_006907.4(PYCR1):c.198C>T (p.Leu66=)	PYCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2085870	NM_006907.4(PYCR1):c.139-13G>A	PYCR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2083968	NM_006907.4(PYCR1):c.101C>A (p.Ser34Tyr)	PYCR1 (S34Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2082773	NM_006907.4(PYCR1):c.570_571insA (p.Gly191fs)	PYCR1 (G218fs +1 more)	Insertion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2081995	NM_006907.4(PYCR1):c.258T>G (p.Ile86Met)	PYCR1 (I113M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2078969	NM_006907.4(PYCR1):c.420C>T (p.His140=)	PYCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2076118	NM_006907.4(PYCR1):c.433G>A (p.Asp145Asn)	PYCR1 (D172N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2068585	NM_006907.4(PYCR1):c.922C>G (p.Leu308Val)	PYCR1 (L277V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2068527	NM_006907.4(PYCR1):c.701C>T (p.Pro234Leu)	PYCR1 (P234L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2062620	NM_006907.4(PYCR1):c.574G>C (p.Gly192Arg)	PYCR1 (G192R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2056534	NM_006907.4(PYCR1):c.905C>T (p.Pro302Leu)	PYCR1 (P271L +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2053393	NM_006907.4(PYCR1):c.65C>T (p.Ala22Val)	PYCR1 (A49V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2053262	NM_006907.4(PYCR1):c.410C>T (p.Thr137Ile)	PYCR1 (T137I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2053095	NM_006907.4(PYCR1):c.480G>C (p.Thr160=)	PYCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2049980	NM_006907.4(PYCR1):c.67+13G>C	PYCR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2025825	NM_006907.4(PYCR1):c.139-7C>T	PYCR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2017008	NM_006907.4(PYCR1):c.345C>G (p.Pro115=)	PYCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2012749	NM_006907.4(PYCR1):c.797+9C>T	PYCR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2006715	NM_006907.4(PYCR1):c.274GTG[1] (p.Val93del)	PYCR1 (V120del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance

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