ClinVar for Gene (Select 54928) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3261401	NM_017813.5(BPNT2):c.109A>G (p.Ser37Gly)	BPNT2, LOC130000433 (S37G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261400	NM_017813.5(BPNT2):c.405C>G (p.His135Gln)	BPNT2 (H135Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134884	NM_017813.5(BPNT2):c.767C>T (p.Thr256Ile)	BPNT2 (T256I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134883	NM_017813.5(BPNT2):c.686G>A (p.Arg229His)	BPNT2 (R229H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134882	NM_017813.5(BPNT2):c.437G>T (p.Trp146Leu)	BPNT2 (W146L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134881	NM_017813.5(BPNT2):c.211G>T (p.Val71Leu)	BPNT2 (V71L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134880	NM_017813.5(BPNT2):c.198G>C (p.Met66Ile)	BPNT2 (M66I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134879	NM_017813.5(BPNT2):c.190C>A (p.Arg64Ser)	BPNT2 (R64S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134878	NM_017813.5(BPNT2):c.179C>T (p.Thr60Ile)	BPNT2 (T60I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134877	NM_017813.5(BPNT2):c.133C>T (p.Pro45Ser)	BPNT2, LOC130000433 (P45S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068283	NM_017813.5(BPNT2):c.1007T>C (p.Leu336Pro)	BPNT2 (L336P)	Single nucleotide variant (missense variant)	Chondrodysplasia with joint dislocations, gPAPP type	GLikely pathogenic
Select item 3065170	NM_017813.5(BPNT2):c.1001G>A (p.Gly334Glu)	BPNT2 (G334E)	Single nucleotide variant (missense variant)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 3064488	NM_017813.5(BPNT2):c.713_714insCTTCCTATGG (p.Arg238fs)	BPNT2 (R238fs)	Insertion (frameshift variant)	Chondrodysplasia with joint dislocations, gPAPP type	GLikely pathogenic
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3057876	NM_017813.5(BPNT2):c.141C>G (p.Gly47=)	BPNT2, LOC130000433	Single nucleotide variant (synonymous variant)	BPNT2-related disorder	GLikely benign
Select item 3053807	NM_017813.5(BPNT2):c.153G>C (p.Gly51=)	BPNT2, LOC130000433	Single nucleotide variant (synonymous variant)	BPNT2-related disorder	GLikely benign
Select item 3047685	NM_017813.5(BPNT2):c.-4C>T	BPNT2, LOC130000433	Single nucleotide variant (5 prime UTR variant)	BPNT2-related disorder	GLikely benign
Select item 3023454	NM_017813.5(BPNT2):c.551-21_551-19del	BPNT2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 3003711	NM_017813.5(BPNT2):c.636C>T (p.Ser212=)	BPNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972309	NM_017813.5(BPNT2):c.717C>T (p.Ile239=)	BPNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969620	NM_017813.5(BPNT2):c.102C>A (p.Gly34=)	BPNT2, LOC130000433	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962733	NM_017813.5(BPNT2):c.582G>A (p.Val194=)	BPNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892965	NM_017813.5(BPNT2):c.787A>G (p.Ile263Val)	BPNT2 (I263V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2884333	NM_017813.5(BPNT2):c.551-8dup	BPNT2	Duplication (intron variant)	not provided	GBenign
Select item 2883405	NM_017813.5(BPNT2):c.993T>C (p.Ile331=)	BPNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871018	NM_017813.5(BPNT2):c.1035C>T (p.Ala345=)	BPNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2781998	NM_017813.5(BPNT2):c.477T>C (p.Thr159=)	BPNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2745721	NM_017813.5(BPNT2):c.525A>T (p.Pro175=)	BPNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2713994	NM_017813.5(BPNT2):c.421C>T (p.Gln141Ter)	BPNT2 (Q141*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2685311	GRCh37/hg19 8q12.1(chr8:57048524-58117681)x1	BPNT2, CHCHD7 +3 more	Copy number loss	not provided	GLikely pathogenic
Select item 2618513	NM_017813.5(BPNT2):c.712A>G (p.Arg238Gly)	BPNT2 (R238G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618264	NM_017813.5(BPNT2):c.451C>G (p.Pro151Ala)	BPNT2 (P151A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562147	NM_017813.5(BPNT2):c.305C>T (p.Ala102Val)	BPNT2 (A102V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550491	NM_017813.5(BPNT2):c.745G>A (p.Val249Ile)	BPNT2 (V249I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2504979	NM_017813.5(BPNT2):c.43G>C (p.Val15Leu)	BPNT2, LOC130000433 (V15L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2486165	NM_017813.5(BPNT2):c.127G>T (p.Gly43Cys)	BPNT2, LOC130000433 (G43C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471291	NM_017813.5(BPNT2):c.484A>G (p.Lys162Glu)	BPNT2 (K162E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426358	NC_000008.10:g.(?_57876352)_(57906144_?)del	BPNT2	Deletion	not provided	GPathogenic
Select item 2419622	NM_017813.5(BPNT2):c.84C>T (p.Tyr28=)	BPNT2, LOC130000433	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2413694	NM_017813.5(BPNT2):c.756C>A (p.Val252=)	BPNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2201700	NM_017813.5(BPNT2):c.551-3_551-2del	BPNT2	Deletion (splice acceptor variant)	not provided	GUncertain significance
Select item 2197647	NM_017813.5(BPNT2):c.186C>G (p.Asp62Glu)	BPNT2 (D62E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2188633	NM_017813.5(BPNT2):c.78C>T (p.His26=)	BPNT2, LOC130000433	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2182488	NM_017813.5(BPNT2):c.1054G>C (p.Asp352His)	BPNT2 (D352H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2182089	NM_017813.5(BPNT2):c.118_130dup (p.Glu44fs)	BPNT2, LOC130000433 (E44fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2178009	NM_017813.5(BPNT2):c.112C>G (p.Leu38Val)	BPNT2, LOC130000433 (L38V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2177048	NM_017813.5(BPNT2):c.917C>T (p.Ala306Val)	BPNT2 (A306V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2161381	NM_017813.5(BPNT2):c.568G>A (p.Val190Ile)	BPNT2 (V190I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2112942	NM_017813.5(BPNT2):c.422AGG[1] (p.Glu142del)	BPNT2 (E142del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2075262	NM_017813.5(BPNT2):c.727C>T (p.Arg243Cys)	BPNT2 (R243C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2068711	NM_017813.5(BPNT2):c.445A>G (p.Lys149Glu)	BPNT2 (K149E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2067808	NM_017813.5(BPNT2):c.211G>A (p.Val71Met)	BPNT2 (V71M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2067423	NM_017813.5(BPNT2):c.673A>G (p.Asn225Asp)	BPNT2 (N225D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2063540	NM_017813.5(BPNT2):c.169G>T (p.Asp57Tyr)	BPNT2 (D57Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2053257	NM_017813.5(BPNT2):c.469G>C (p.Glu157Gln)	BPNT2 (E157Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2041121	NM_017813.5(BPNT2):c.8C>T (p.Pro3Leu)	BPNT2, LOC130000433 (P3L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1978870	NM_017813.5(BPNT2):c.833A>G (p.Asp278Gly)	BPNT2 (D278G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1964409	NM_017813.5(BPNT2):c.310G>A (p.Asp104Asn)	BPNT2 (D104N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1940752	NM_017813.5(BPNT2):c.154C>T (p.Pro52Ser)	BPNT2, LOC130000433 (P52S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1921341	NM_017813.5(BPNT2):c.180C>T (p.Thr60=)	BPNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1906634	NM_017813.5(BPNT2):c.377C>G (p.Pro126Arg)	BPNT2 (P126R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1905819	NM_017813.5(BPNT2):c.939del (p.His314fs)	BPNT2 (H314fs)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1905300	NM_017813.5(BPNT2):c.886A>G (p.Ile296Val)	BPNT2 (I296V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1705420	NM_017813.5(BPNT2):c.230_250dup (p.Arg83_Val84insGlyGlyAspGluValArgArg)	BPNT2	Duplication (inframe_insertion)	Chondrodysplasia with joint dislocations, gPAPP type	GUncertain significance
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1681113	NM_017813.5(BPNT2):c.6C>T (p.Ala2=)	BPNT2, LOC130000433	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1681112	NM_017813.5(BPNT2):c.31C>G (p.Leu11Val)	BPNT2, LOC130000433 (L11V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1681111	NM_017813.5(BPNT2):c.49T>G (p.Cys17Gly)	BPNT2, LOC130000433 (C17G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1681110	NM_017813.5(BPNT2):c.120C>T (p.Gly40=)	BPNT2, LOC130000433	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1681109	NM_017813.5(BPNT2):c.152G>A (p.Gly51Glu)	BPNT2, LOC130000433 (G51E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1681108	NM_017813.5(BPNT2):c.153G>A (p.Gly51=)	BPNT2, LOC130000433	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1681107	NM_017813.5(BPNT2):c.236A>C (p.Asp79Ala)	BPNT2 (D79A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1681106	NM_017813.5(BPNT2):c.290A>G (p.Lys97Arg)	BPNT2 (K97R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1681105	NM_017813.5(BPNT2):c.356A>G (p.Tyr119Cys)	BPNT2 (Y119C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1681104	NM_017813.5(BPNT2):c.388-10T>C	BPNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1681103	NM_017813.5(BPNT2):c.388-6A>C	BPNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1681102	NM_017813.5(BPNT2):c.396T>G (p.Thr132=)	BPNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1681101	NM_017813.5(BPNT2):c.406G>A (p.Val136Met)	BPNT2 (V136M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1681100	NM_017813.5(BPNT2):c.424G>A (p.Glu142Lys)	BPNT2 (E142K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1681099	NM_017813.5(BPNT2):c.517A>G (p.Ile173Val)	BPNT2 (I173V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1681098	NM_017813.5(BPNT2):c.551-18T>C	BPNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1681097	NM_017813.5(BPNT2):c.646+16G>A	BPNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1681096	NM_017813.5(BPNT2):c.646+20T>C	BPNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1681095	NM_017813.5(BPNT2):c.647-8del	BPNT2	Deletion (intron variant)	not provided	GLikely benign
Select item 1681094	NM_017813.5(BPNT2):c.747C>T (p.Val249=)	BPNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1681093	NM_017813.5(BPNT2):c.766A>G (p.Thr256Ala)	BPNT2 (T256A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1681092	NM_017813.5(BPNT2):c.808+14C>T	BPNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1681091	NM_017813.5(BPNT2):c.808+17G>A	BPNT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1681090	NM_017813.5(BPNT2):c.810T>A (p.Gly270=)	BPNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1681089	NM_017813.5(BPNT2):c.848G>A (p.Ser283Asn)	BPNT2 (S283N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1681088	NM_017813.5(BPNT2):c.882A>G (p.Thr294=)	BPNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1681087	NM_017813.5(BPNT2):c.956G>A (p.Ser319Asn)	BPNT2 (S319N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1681086	NM_017813.5(BPNT2):c.1005C>A (p.Leu335=)	BPNT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1681023	NC_000008.10:g.(?_57905738)_(57906144_?)dup	BPNT2	Duplication	not provided	GUncertain significance
Select item 1681022	NC_000008.10:g.(?_57876352)_(57906144_?)dup	BPNT2	Duplication	not provided	GUncertain significance
Select item 1527432	GRCh37/hg19 8q12.1(chr8:57492825-58104912)	BPNT2	Copy number gain	not specified	GUncertain significance
Select item 1511848	NC_000008.10:g.(?_56854419)_(57906144_?)dup	PENK, SDR16C5 +6 more	Duplication	not provided	GUncertain significance
Select item 1280347	NM_017813.5(BPNT2):c.550+76T>C	BPNT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275892	NM_017813.5(BPNT2):c.646+273del	BPNT2	Deletion (intron variant)	not provided	GBenign

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