ClinVar for Gene (Select 10450) - ClinVar

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Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3217195	NM_006112.4(PPIE):c.826C>T (p.Arg276Trp)	PPIE (R276W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217194	NM_006112.4(PPIE):c.596A>G (p.Gln199Arg)	PPIE (Q186R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217193	NM_006112.4(PPIE):c.546T>G (p.Phe182Leu)	PPIE (F169L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217192	NM_006112.4(PPIE):c.233G>A (p.Arg78His)	PPIE (R78H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134578	NM_001720.5(BMP8B):c.1180A>C (p.Met394Leu)	BMP8B, PPIE (M394L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2638716	NM_001720.5(BMP8B):c.889G>A (p.Gly297Ser)	BMP8B, PPIE (G297S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2638715	NM_001720.5(BMP8B):c.1095G>A (p.Ala365=)	BMP8B, PPIE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2622244	NM_001720.5(BMP8B):c.1055C>A (p.Ser352Tyr)	BMP8B, PPIE (S352Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603342	NM_001720.5(BMP8B):c.1175G>T (p.Arg392Leu)	BMP8B, PPIE (R392L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596636	NM_006112.4(PPIE):c.589A>G (p.Met197Val)	PPIE (M197V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593778	NM_006112.4(PPIE):c.455C>T (p.Pro152Leu)	PPIE (P139L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492516	NM_006112.4(PPIE):c.736T>A (p.Ser246Thr)	PPIE (S233T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490046	NM_001720.5(BMP8B):c.1075C>A (p.Pro359Thr)	BMP8B, PPIE (P359T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474070	NM_001720.5(BMP8B):c.1031C>T (p.Ala344Val)	BMP8B, PPIE (A344V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458408	NM_006112.4(PPIE):c.154G>A (p.Val52Ile)	PPIE (V52I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406552	NM_006112.4(PPIE):c.133A>G (p.Lys45Glu)	PPIE (K45E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388516	NM_006112.4(PPIE):c.620A>G (p.Asn207Ser)	PPIE (N207S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375346	NM_001720.5(BMP8B):c.896A>G (p.Gln299Arg)	BMP8B, PPIE (Q299R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2359152	NM_001720.5(BMP8B):c.1198G>A (p.Gly400Ser)	BMP8B, PPIE (G400S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331029	NM_006112.4(PPIE):c.538A>G (p.Lys180Glu)	PPIE (K167E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325553	NM_006112.4(PPIE):c.551T>G (p.Phe184Cys)	PPIE (F171C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284751	NM_006112.4(PPIE):c.518G>A (p.Arg173His)	PPIE (R173H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252236	NM_001720.5(BMP8B):c.908G>A (p.Arg303Gln)	BMP8B, PPIE (R303Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2250832	NM_006112.4(PPIE):c.755G>A (p.Cys252Tyr)	PPIE (C252Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235180	NM_006112.4(PPIE):c.409C>T (p.Arg137Cys)	PPIE (R137C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2216896	NM_001720.5(BMP8B):c.1094C>T (p.Ala365Val)	BMP8B, PPIE (A365V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1526937	GRCh37/hg19 1p34.3-34.2(chr1:38679545-42556292)	AKIRIN1, BMP8A +40 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 988903	GRCh37/hg19 1p34.3-34.2(chr1:39340597-40603856)x1	CAP1, GJA9 +18 more	Copy number loss	not provided	GUncertain significance
Select item 780000	NM_001720.5(BMP8B):c.1059+10A>G	BMP8B, PPIE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 773107	NM_001720.5(BMP8B):c.1059+579A>G	BMP8B, PPIE	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 727024	NM_001720.5(BMP8B):c.978G>C (p.Ser326=)	BMP8B, PPIE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 721373	NM_001720.5(BMP8B):c.978G>A (p.Ser326=)	BMP8B, PPIE	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 685011	GRCh37/hg19 1p34.3-34.2(chr1:40007947-40280565)x3	BMP8B, HEYL +6 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 585233	GRCh37/hg19 1p34.3-34.2(chr1:40097132-40236108)x3	BMP8B, HEYL +4 more	Copy number gain	not provided	Gnot provided
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	CLSPN, COL8A2 +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LOC129929733, LOC129929734 +1145 more	Copy number gain	See cases	GPathogenic
Select item 59934	GRCh38/hg38 1p34.3-34.2(chr1:38108665-42327551)x1	AKIRIN1, BMP8A +268 more	Copy number loss	See cases	GPathogenic
Select item 58072	GRCh38/hg38 1p34.3-34.2(chr1:39360747-40900817)x3	BMP8A, BMP8B +129 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 43