"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "KPTN"[g - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 715187	NM_007059.4(KPTN):c.1305C>T (p.Ala435=)	KPTN	Single nucleotide variant (synonymous variant +1 more)	Macrocephaly-developmental delay syndrome	GLikely benign
Select item 1018762	NM_007059.4(KPTN):c.1292C>A (p.Ala431Asp)	KPTN (A375D +1 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-developmental delay syndrome	GUncertain significance
Select item 1336465	NM_007059.4(KPTN):c.1268A>G (p.Glu423Gly)	KPTN (E367G +1 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-developmental delay syndrome +1 more	GUncertain significance
Select item 1537291	NM_007059.4(KPTN):c.1263G>A (p.Gly421=)	KPTN	Single nucleotide variant (synonymous variant +1 more)	Macrocephaly-developmental delay syndrome	GLikely benign
Select item 582228	NM_007059.4(KPTN):c.1250G>A (p.Arg417His)	KPTN (R417H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 474856	NM_007059.4(KPTN):c.1245G>A (p.Arg415=)	KPTN	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1518434	NM_007059.4(KPTN):c.1243A>G (p.Arg415Gly)	KPTN (R359G +1 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-developmental delay syndrome	GUncertain significance
Select item 620486	NM_007059.4(KPTN):c.1225C>T (p.Arg409Ter)	KPTN (R409* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 730104	NM_007059.4(KPTN):c.1182+8C>T	KPTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 444477	NM_007059.4(KPTN):c.1167C>T (p.Gly389=)	KPTN	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 727322	NM_007059.4(KPTN):c.1113C>T (p.His371=)	KPTN	Single nucleotide variant (synonymous variant +1 more)	Macrocephaly-developmental delay syndrome	GLikely benign
Select item 752856	NM_007059.4(KPTN):c.1071G>C (p.Leu357=)	KPTN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 474855	NM_007059.4(KPTN):c.1056C>T (p.His352=)	KPTN	Single nucleotide variant (synonymous variant +1 more)	Macrocephaly-developmental delay syndrome +1 more	GBenign
Select item 1145264	NM_007059.4(KPTN):c.1035G>C (p.Ser345=)	KPTN	Single nucleotide variant (synonymous variant +1 more)	Macrocephaly-developmental delay syndrome	GLikely benign
Select item 435674	NM_007059.4(KPTN):c.1035G>A (p.Ser345=)	KPTN	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 1146794	NM_007059.4(KPTN):c.1032G>A (p.Glu344=)	KPTN	Single nucleotide variant (synonymous variant +1 more)	Macrocephaly-developmental delay syndrome	GLikely benign
Select item 635753	NM_007059.4(KPTN):c.1021C>T (p.Arg341Trp)	KPTN (R341W +1 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-developmental delay syndrome	GUncertain significance
Select item 846171	NM_007059.4(KPTN):c.1000G>A (p.Glu334Lys)	KPTN (E334K +1 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-developmental delay syndrome +1 more	GUncertain significance
Select item 1591714	NM_007059.4(KPTN):c.1000-14C>T	KPTN	Single nucleotide variant (intron variant)	Macrocephaly-developmental delay syndrome +1 more	GBenign
Select item 2919920	NM_007059.4(KPTN):c.1000-19T>C	KPTN	Single nucleotide variant (intron variant)	Macrocephaly-developmental delay syndrome	GLikely benign
Select item 2041030	NM_007059.4(KPTN):c.992A>C (p.Tyr331Ser)	KPTN (Y275S +1 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-developmental delay syndrome	GUncertain significance
Select item 474858	NM_007059.4(KPTN):c.968G>A (p.Arg323Gln)	KPTN (R323Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 945175	NM_007059.4(KPTN):c.949G>A (p.Asp317Asn)	KPTN (D261N +1 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-developmental delay syndrome +1 more	GUncertain significance
Select item 2197234	NM_007059.4(KPTN):c.948C>T (p.Thr316=)	KPTN	Single nucleotide variant (synonymous variant +1 more)	Macrocephaly-developmental delay syndrome	GLikely benign
Select item 2029106	NM_007059.4(KPTN):c.930C>G (p.Val310=)	KPTN	Single nucleotide variant (synonymous variant +1 more)	Macrocephaly-developmental delay syndrome	GLikely benign
Select item 2041113	NM_007059.4(KPTN):c.928G>A (p.Val310Ile)	KPTN (V254I +1 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-developmental delay syndrome	GUncertain significance
Select item 1300081	NM_007059.4(KPTN):c.906C>T (p.Pro302=)	KPTN	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2727887	NM_007059.4(KPTN):c.878G>A (p.Arg293Gln)	KPTN (R293Q +1 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-developmental delay syndrome	GUncertain significance
Select item 2040787	NM_007059.4(KPTN):c.863+13GA[4]	KPTN	Microsatellite (intron variant)	Macrocephaly-developmental delay syndrome	GLikely benign
Select item 916244	NM_007059.4(KPTN):c.863G>A (p.Arg288Gln)	KPTN (R232Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2087756	NM_007059.4(KPTN):c.856G>T (p.Val286Leu)	KPTN (V286L +1 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-developmental delay syndrome	GUncertain significance
Select item 2076446	NM_007059.4(KPTN):c.822C>T (p.Ser274=)	KPTN	Single nucleotide variant (synonymous variant +1 more)	Macrocephaly-developmental delay syndrome	GLikely benign
Select item 1059956	NM_007059.4(KPTN):c.806T>C (p.Leu269Pro)	KPTN (L213P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2832625	NM_007059.4(KPTN):c.788-5T>C	KPTN	Single nucleotide variant (intron variant)	Macrocephaly-developmental delay syndrome	GLikely benign
Select item 1547279	NM_007059.4(KPTN):c.788-14T>C	KPTN	Single nucleotide variant (intron variant)	Macrocephaly-developmental delay syndrome	GBenign
Select item 1365405	NM_007059.4(KPTN):c.785_786del (p.Lys262fs)	KPTN (K206fs +1 more)	Deletion (frameshift variant +1 more)	Macrocephaly-developmental delay syndrome	GPathogenic
Select item 581046	NM_007059.4(KPTN):c.786G>A (p.Lys262=)	KPTN	Single nucleotide variant (synonymous variant +1 more)	Macrocephaly-developmental delay syndrome	GUncertain significance
Select item 2200153	NM_007059.4(KPTN):c.781G>A (p.Ala261Thr)	KPTN (A261T +1 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-developmental delay syndrome +1 more	GUncertain significance
Select item 1034348	NM_007059.4(KPTN):c.779C>A (p.Ala260Asp)	KPTN (A260D +1 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-developmental delay syndrome +1 more	GUncertain significance
Select item 435681	NM_007059.4(KPTN):c.777G>A (p.Ser259=)	KPTN	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 100679	NM_007059.4(KPTN):c.776C>A (p.Ser259Ter)	KPTN (S259* +1 more)	Single nucleotide variant (nonsense +1 more)	Macrocephaly-developmental delay syndrome +2 more	GPathogenic
Select item 435676	NM_007059.4(KPTN):c.761T>C (p.Ile254Thr)	KPTN (I254T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 714401	NM_007059.4(KPTN):c.733C>G (p.Leu245Val)	KPTN (L245V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 100680	NM_007059.4(KPTN):c.714_731dup (p.Gln246_Asp247insMetTrpSerValLeuGln)	KPTN	Duplication (inframe_insertion +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2716487	NM_007059.4(KPTN):c.710-4G>A	KPTN	Single nucleotide variant (intron variant)	Macrocephaly-developmental delay syndrome	GLikely benign
Select item 2128484	NM_007059.4(KPTN):c.710-12C>G	KPTN	Single nucleotide variant (intron variant)	Macrocephaly-developmental delay syndrome	GLikely benign
Select item 1598156	NM_007059.4(KPTN):c.710-14C>T	KPTN	Single nucleotide variant (intron variant)	Macrocephaly-developmental delay syndrome	GBenign
Select item 1660092	NM_007059.4(KPTN):c.710-19A>C	KPTN	Single nucleotide variant (intron variant)	Macrocephaly-developmental delay syndrome +1 more	GBenign
Select item 836803	NM_007059.4(KPTN):c.709+6G>A	KPTN	Single nucleotide variant (intron variant)	Macrocephaly-developmental delay syndrome	GUncertain significance
Select item 1483810	NM_007059.4(KPTN):c.671G>T (p.Gly224Val)	KPTN (G224V +1 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-developmental delay syndrome	GUncertain significance
Select item 435678	NM_007059.4(KPTN):c.631G>C (p.Gly211Arg)	KPTN (G211R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 772059	NM_007059.4(KPTN):c.600-6C>T	KPTN	Single nucleotide variant (intron variant)	Macrocephaly-developmental delay syndrome	GBenign
Select item 721647	NM_007059.4(KPTN):c.600-8C>T	KPTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2078228	NM_007059.4(KPTN):c.600-17A>G	KPTN	Single nucleotide variant (intron variant)	Macrocephaly-developmental delay syndrome	GLikely benign
Select item 3006150	NM_007059.4(KPTN):c.599+17A>C	KPTN	Single nucleotide variant (intron variant)	Macrocephaly-developmental delay syndrome +1 more	GLikely benign
Select item 279826	NM_007059.4(KPTN):c.597_598dup (p.Ser200fs)	KPTN (S200fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2733093	NM_007059.4(KPTN):c.585G>A (p.Thr195=)	KPTN	Single nucleotide variant (synonymous variant +1 more)	Macrocephaly-developmental delay syndrome	GLikely benign
Select item 1057342	NM_007059.4(KPTN):c.559G>A (p.Val187Met)	KPTN (V131M +1 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-developmental delay syndrome	GUncertain significance
Select item 1116166	NM_007059.4(KPTN):c.558C>T (p.Pro186=)	KPTN	Single nucleotide variant (synonymous variant +1 more)	Macrocephaly-developmental delay syndrome	GLikely benign
Select item 541698	NM_007059.4(KPTN):c.558C>G (p.Pro186=)	KPTN	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1675752	NM_007059.4(KPTN):c.537G>A (p.Leu179=)	KPTN	Single nucleotide variant (synonymous variant +1 more)	Macrocephaly-developmental delay syndrome +1 more	GLikely benign
Select item 1620937	NM_007059.4(KPTN):c.526-11G>C	KPTN	Single nucleotide variant (intron variant)	Macrocephaly-developmental delay syndrome	GLikely benign
Select item 1600273	NM_007059.4(KPTN):c.525+13G>A	KPTN	Single nucleotide variant (intron variant)	Macrocephaly-developmental delay syndrome	GBenign
Select item 474857	NM_007059.4(KPTN):c.504G>A (p.Pro168=)	KPTN	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1471809	NM_007059.4(KPTN):c.499G>A (p.Asp167Asn)	KPTN (D167N +1 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-developmental delay syndrome	GUncertain significance
Select item 2849762	NM_007059.4(KPTN):c.489G>A (p.Leu163=)	KPTN	Single nucleotide variant (synonymous variant +1 more)	Macrocephaly-developmental delay syndrome	GLikely benign
Select item 435680	NM_007059.4(KPTN):c.460G>A (p.Gly154Arg)	KPTN (G154R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 750754	NM_007059.4(KPTN):c.452T>C (p.Val151Ala)	KPTN (V151A +1 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-developmental delay syndrome	GBenign
Select item 2057478	NM_007059.4(KPTN):c.449+20C>T	KPTN	Single nucleotide variant (non-coding transcript variant +1 more)	Macrocephaly-developmental delay syndrome	GUncertain significance
Select item 1563213	NM_007059.4(KPTN):c.449+16G>A	KPTN	Single nucleotide variant (non-coding transcript variant +1 more)	Macrocephaly-developmental delay syndrome	GLikely benign
Select item 734974	NM_007059.4(KPTN):c.449+7G>T	KPTN	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 789496	NM_007059.4(KPTN):c.447G>A (p.Ala149=)	KPTN	Single nucleotide variant (synonymous variant +1 more)	Macrocephaly-developmental delay syndrome	GLikely benign
Select item 2716488	NM_007059.4(KPTN):c.429G>T (p.Pro143=)	KPTN	Single nucleotide variant (synonymous variant +1 more)	Macrocephaly-developmental delay syndrome	GLikely benign
Select item 803569	NM_007059.4(KPTN):c.428C>T (p.Pro143Leu)	KPTN (P143L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 953682	NM_007059.4(KPTN):c.423C>A (p.Phe141Leu)	KPTN (F141L +1 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-developmental delay syndrome	GUncertain significance
Select item 2732438	NM_007059.4(KPTN):c.394+18G>A	KPTN	Single nucleotide variant (intron variant)	Macrocephaly-developmental delay syndrome	GLikely benign
Select item 2916534	NM_007059.4(KPTN):c.394+17C>T	KPTN	Single nucleotide variant (intron variant)	Macrocephaly-developmental delay syndrome	GLikely benign
Select item 1580586	NM_007059.4(KPTN):c.394+12G>A	KPTN	Single nucleotide variant (intron variant)	Macrocephaly-developmental delay syndrome	GLikely benign
Select item 2862376	NM_007059.4(KPTN):c.391del (p.Ala131fs)	KPTN (A131fs)	Deletion (frameshift variant +2 more)	Macrocephaly-developmental delay syndrome	GPathogenic
Select item 1932651	NM_007059.4(KPTN):c.349T>C (p.Cys117Arg)	KPTN (C117R)	Single nucleotide variant (missense variant +2 more)	Macrocephaly-developmental delay syndrome	GUncertain significance
Select item 757197	NM_007059.4(KPTN):c.309+8G>T	KPTN	Single nucleotide variant (intron variant)	Macrocephaly-developmental delay syndrome	GLikely benign
Select item 1100816	NM_007059.4(KPTN):c.234G>A (p.Ala78=)	KPTN	Single nucleotide variant (synonymous variant +2 more)	Macrocephaly-developmental delay syndrome	GLikely benign
Select item 943726	NM_007059.4(KPTN):c.229G>T (p.Asp77Tyr)	KPTN (D77Y)	Single nucleotide variant (missense variant +2 more)	Macrocephaly-developmental delay syndrome	GUncertain significance
Select item 955543	NM_007059.4(KPTN):c.227-3C>T	KPTN	Single nucleotide variant (intron variant)	Macrocephaly-developmental delay syndrome	GUncertain significance
Select item 764985	NM_007059.4(KPTN):c.227-6T>C	KPTN	Single nucleotide variant (intron variant)	Macrocephaly-developmental delay syndrome	GLikely benign
Select item 1982435	NM_007059.4(KPTN):c.227-9C>T	KPTN	Single nucleotide variant (intron variant)	Macrocephaly-developmental delay syndrome	GLikely benign
Select item 1965872	NM_007059.4(KPTN):c.226+11C>A	KPTN	Single nucleotide variant (intron variant)	Macrocephaly-developmental delay syndrome	GBenign
Select item 2169749	NM_007059.4(KPTN):c.220A>G (p.Ile74Val)	KPTN (I74V)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-developmental delay syndrome	GUncertain significance
Select item 1388922	NM_007059.4(KPTN):c.196G>T (p.Ala66Ser)	KPTN (A66S)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-developmental delay syndrome	GUncertain significance
Select item 1144504	NM_007059.4(KPTN):c.195G>A (p.Val65=)	KPTN	Single nucleotide variant (synonymous variant +1 more)	Macrocephaly-developmental delay syndrome	GLikely benign
Select item 252672	NM_007059.4(KPTN):c.188G>A (p.Arg63Gln)	KPTN (R63Q)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1213440	NM_007059.4(KPTN):c.184dup (p.Ile62fs)	KPTN (I62fs)	Duplication (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1450180	NM_007059.4(KPTN):c.161G>A (p.Arg54His)	KPTN (R54H)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-developmental delay syndrome	GUncertain significance
Select item 951626	NM_007059.4(KPTN):c.152T>A (p.Leu51His)	KPTN (L51H)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-developmental delay syndrome	GUncertain significance
Select item 1627379	NM_007059.4(KPTN):c.126G>C (p.Leu42=)	KPTN	Single nucleotide variant (synonymous variant +1 more)	Macrocephaly-developmental delay syndrome	GLikely benign
Select item 1053015	NM_007059.4(KPTN):c.103G>A (p.Ala35Thr)	KPTN (A35T)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-developmental delay syndrome	GUncertain significance
Select item 935798	NM_007059.4(KPTN):c.102C>T (p.Gly34=)	KPTN	Single nucleotide variant (synonymous variant +1 more)	Macrocephaly-developmental delay syndrome	GConflicting classifications of pathogenicity
Select item 1464918	NM_007059.4(KPTN):c.100G>A (p.Gly34Ser)	KPTN (G34S)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-developmental delay syndrome	GUncertain significance
Select item 1671138	NM_007059.4(KPTN):c.84G>T (p.Val28=)	KPTN	Single nucleotide variant (synonymous variant +1 more)	Macrocephaly-developmental delay syndrome	GLikely benign
Select item 714395	NM_007059.4(KPTN):c.60G>C (p.Thr20=)	KPTN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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