PTCRA[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	LOC129996415, LOC129996416 +435 more	Copy number loss	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC132089395, LOC132089396 +324 more	Copy number loss	See cases	GPathogenic
Select item 57326	GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1	AARS2, ABCC10 +221 more	Copy number loss	See cases	GPathogenic
Select item 3220650	NM_138296.3(PTCRA):c.67G>A (p.Gly23Ser)	PTCRA (G23S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2263458	NM_138296.3(PTCRA):c.101T>A (p.Met34Lys)	PTCRA (M34K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311236	NM_138296.3(PTCRA):c.103C>G (p.Leu35Val)	PTCRA (L35V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377325	NM_138296.3(PTCRA):c.160C>T (p.Pro54Ser)	PTCRA (P54S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268208	NM_138296.3(PTCRA):c.177C>G (p.Ser59Arg)	PTCRA (S59R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2375265	NM_138296.3(PTCRA):c.348C>G (p.His116Gln)	PTCRA (H116Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244987	NM_138296.3(PTCRA):c.364C>T (p.Pro122Ser)	PTCRA (P122S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311235	NM_138296.3(PTCRA):c.460C>T (p.Arg154Trp)	PTCRA (R154W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388628	NM_138296.3(PTCRA):c.461G>A (p.Arg154Gln)	PTCRA (R47Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608359	NM_138296.3(PTCRA):c.503C>A (p.Thr168Asn)	PTCRA (T168N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290040	NM_138296.3(PTCRA):c.503C>T (p.Thr168Ile)	PTCRA (T168I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311237	NM_138296.3(PTCRA):c.527C>A (p.Ala176Glu)	PTCRA (A151E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401482	NM_138296.3(PTCRA):c.533C>T (p.Pro178Leu)	PTCRA (P193L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398996	NM_138296.3(PTCRA):c.533C>G (p.Pro178Arg)	PTCRA (P71R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237654	NM_138296.3(PTCRA):c.542C>G (p.Ser181Cys)	PTCRA (S74C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351919	NM_138296.3(PTCRA):c.559C>T (p.Arg187Cys)	PTCRA (R80C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220648	NM_138296.3(PTCRA):c.607G>C (p.Gly203Arg)	PTCRA (G178R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568436	NM_138296.3(PTCRA):c.637C>A (p.Pro213Thr)	PTCRA (P106T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220649	NM_138296.3(PTCRA):c.652C>T (p.Arg218Cys)	PTCRA (R111C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781870	NM_138296.3(PTCRA):c.680G>A (p.Arg227Gln)	PTCRA (R120Q +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2525778	NM_138296.3(PTCRA):c.745C>A (p.Gln249Lys)	PTCRA (Q224K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490711	NM_138296.3(PTCRA):c.764C>A (p.Ser255Tyr)	PTCRA (S148Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223114	NM_138296.3(PTCRA):c.772A>G (p.Arg258Gly)	PTCRA (R151G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062890	GRCh37/hg19 6p21.1(chr6:42882482-42911046)x1	CNPY3, PTCRA	Copy number loss	not specified	GUncertain significance
Select item 2424354	NC_000006.11:g.(?_42162409)_(44154249_?)del	ABCC10, BICRAL +43 more	Deletion	not provided	GUncertain significance
Select item 2422887	NC_000006.11:g.(?_41126341)_(43737486_?)dup	ABCC10, BICRAL +57 more	Duplication	PRPH2-related disorder	GUncertain significance
Select item 2422814	NC_000006.11:g.(?_41126341)_(43752536_?)del	ABCC10, BICRAL +58 more	Deletion	Peroxisome biogenesis disorder	GPathogenic
Select item 1341007	GRCh37/hg19 6p21.1(chr6:42548155-43053728)x3	BICRAL, C6orf226 +16 more	Copy number gain	not provided	GUncertain significance
Select item 833415	NC_000006.12:g.(?_42923027)_(42984704_?)dup	CNPY3, GNMT +3 more	Duplication	Peroxisome biogenesis disorder	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 3338637	D51A	PTCRA	Single nucleotide variant	PTCRA POLYMORPHISM	GBenign
Select item 3338636	PTCRA, 4-BP DEL, NT296	PTCRA	Deletion	Immunodeficiency 126, susceptibility to	GPathogenic
Select item 3338635	PTCRA, 1-BP DEL, 429A	PTCRA	Deletion	Immunodeficiency 126, susceptibility to	Grisk factor
Select item 3338634	PTCRA, TRP149TER (rs746826227)	PTCRA	Variation	Immunodeficiency 126, susceptibility to	Grisk factor

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Items: 40