ClinVar for Gene (Select 11133) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3289261	NM_007059.4(KPTN):c.55T>A (p.Phe19Ile)	KPTN (F19I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3289260	NM_007059.4(KPTN):c.1307C>T (p.Ser436Phe)	KPTN (S380F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3116214	NM_007059.4(KPTN):c.707G>T (p.Arg236Leu)	KPTN (R180L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3116213	NM_007059.4(KPTN):c.584C>T (p.Thr195Met)	KPTN (T195M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3116211	NM_007059.4(KPTN):c.574C>T (p.Pro192Ser)	KPTN (P136S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3116210	NM_007059.4(KPTN):c.4A>G (p.Met2Val)	KPTN, LOC130064810 (M2V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3068042	NM_007059.4(KPTN):c.877dup (p.Arg293fs)	KPTN (R237fs +1 more)	Duplication (frameshift variant +1 more)	Macrocephaly-developmental delay syndrome	GUncertain significance
Select item 3042780	NM_007059.4(KPTN):c.709+9C>T	KPTN	Single nucleotide variant (intron variant)	KPTN-related disorder	GLikely benign
Select item 3039251	NM_007059.4(KPTN):c.135C>T (p.Thr45=)	KPTN	Single nucleotide variant (synonymous variant +1 more)	KPTN-related disorder	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 2919920	NM_007059.4(KPTN):c.1000-19T>C	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 2862376	NM_007059.4(KPTN):c.391del (p.Ala131fs)	KPTN (A131fs)	Deletion (frameshift variant +2 more)	Macrocephaly-developmental delay syndrome	GPathogenic
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 2832625	NM_007059.4(KPTN):c.788-5T>C	KPTN	Single nucleotide variant (intron variant)	Macrocephaly-developmental delay syndrome	GLikely benign
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 2732438	NM_007059.4(KPTN):c.394+18G>A	KPTN	Single nucleotide variant (intron variant)	Macrocephaly-developmental delay syndrome	GLikely benign
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 2720623	NM_007059.4(KPTN):c.6G>A (p.Met2Ile)	KPTN, LOC130064810 (M2I)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-developmental delay syndrome +1 more	GUncertain significance
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 2716487	NM_007059.4(KPTN):c.710-4G>A	KPTN	Single nucleotide variant (intron variant)	Macrocephaly-developmental delay syndrome	GLikely benign
Select item 2650154	NM_007059.4(KPTN):c.69G>C (p.Ser23=)	KPTN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2637263	NM_007059.4(KPTN):c.79A>G (p.Asn27Asp)	KPTN (N27D)	Single nucleotide variant (missense variant +1 more)	KPTN-related disorder	GUncertain significance
Select item 2637237	NM_007059.4(KPTN):c.364G>A (p.Gly122Ser)	KPTN (G122S)	Single nucleotide variant (missense variant +2 more)	KPTN-related disorder	GUncertain significance
Select item 2612388	NM_007059.4(KPTN):c.176G>C (p.Arg59Pro)	KPTN (R59P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2609709	NM_007059.4(KPTN):c.583A>G (p.Thr195Ala)	KPTN (T139A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2596146	NM_007059.4(KPTN):c.907G>A (p.Gly303Ser)	KPTN (G247S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2579250	GRCh38/hg38 19q13.32-13.33(chr19:47257435-47886413)x1	BICRA, BICRA-AS2 +56 more	Copy number loss	Cone-rod dystrophy 2	GUncertain significance
Select item 2578834	NM_007059.4(KPTN):c.981G>A (p.Leu327=)	KPTN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2577079	NM_007059.3(KPTN):c.397_398delAG	KPTN	Microsatellite	Macrocephaly-developmental delay syndrome	GPathogenic
Select item 2556124	NM_007059.4(KPTN):c.802C>T (p.Pro268Ser)	KPTN (P212S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2554518	NM_007059.4(KPTN):c.161G>T (p.Arg54Leu)	KPTN (R54L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2554079	NM_007059.4(KPTN):c.1276G>A (p.Ala426Thr)	KPTN (A370T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2515477	NM_007059.4(KPTN):c.1078C>T (p.Arg360Trp)	KPTN (R304W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2504578	GRCh37/hg19 19q13.32-13.33(chr19:47028919-48185409)	AP2S1, ARHGAP35 +25 more	Copy number gain	Coffin-Siris syndrome 12	GLikely pathogenic
Select item 2498788	NM_007059.4(KPTN):c.450-478A>G	KPTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2497857	NM_007059.4(KPTN):c.301T>G (p.Phe101Val)	KPTN (F101V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2473700	NM_007059.4(KPTN):c.880G>A (p.Gly294Ser)	KPTN (G238S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2446053	NM_007059.4(KPTN):c.736C>T (p.Gln246Ter)	KPTN (Q190* +1 more)	Single nucleotide variant (nonsense +1 more)	Macrocephaly-developmental delay syndrome	GPathogenic
Select item 2442031	NM_007059.4(KPTN):c.103G>T (p.Ala35Ser)	KPTN (A35S)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-developmental delay syndrome	GUncertain significance
Select item 2409463	NM_007059.4(KPTN):c.83T>G (p.Val28Gly)	KPTN (V28G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2368884	NM_007059.4(KPTN):c.1079G>A (p.Arg360Gln)	KPTN (R360Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2293652	NM_007059.4(KPTN):c.1273G>A (p.Gly425Arg)	KPTN (G369R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2293162	NM_007059.4(KPTN):c.532G>A (p.Gly178Arg)	KPTN (G122R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2251579	NM_007059.4(KPTN):c.1183-42_1188del	KPTN	Deletion (splice acceptor variant)	Inborn genetic diseases	GUncertain significance
Select item 2232539	NM_007059.4(KPTN):c.36T>G (p.Cys12Trp)	KPTN (C12W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2232538	NM_007059.4(KPTN):c.34T>C (p.Cys12Arg)	KPTN (C12R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2226300	NM_007059.4(KPTN):c.11A>C (p.Glu4Ala)	KPTN, LOC130064810 (E4A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 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 2182364	NM_007059.4(KPTN):c.39G>A (p.Pro13=)	KPTN	Single nucleotide variant (synonymous variant +1 more)	Macrocephaly-developmental delay syndrome	GLikely benign
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 2128484	NM_007059.4(KPTN):c.710-12C>G	KPTN	Single nucleotide variant (intron variant)	Macrocephaly-developmental delay syndrome	GLikely benign
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 2078228	NM_007059.4(KPTN):c.600-17A>G	KPTN	Single nucleotide variant (intron variant)	Macrocephaly-developmental delay syndrome	GLikely benign
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 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 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 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 2040787	NM_007059.4(KPTN):c.863+13GA[4]	KPTN	Microsatellite (intron variant)	Macrocephaly-developmental delay syndrome	GLikely benign
Select item 2037605	NM_007059.4(KPTN):c.57C>G (p.Phe19Leu)	KPTN (F19L)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-developmental delay syndrome	GUncertain significance
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 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 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 1805859	NM_007059.4(KPTN):c.992A>G (p.Tyr331Cys)	KPTN (Y275C +1 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-developmental delay syndrome	GUncertain significance
Select item 1805215	NM_007059.4(KPTN):c.1000-4G>A	KPTN	Single nucleotide variant (intron variant)	Macrocephaly-developmental delay syndrome	GUncertain significance
Select item 1710632	NM_007059.4(KPTN):c.494G>C (p.Gly165Ala)	KPTN (G109A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1708053	NM_007059.4(KPTN):c.985G>C (p.Ala329Pro)	KPTN (A273P +1 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-developmental delay syndrome	GUncertain significance
Select item 1707524	NM_007059.4(KPTN):c.1129_1168dup (p.Val390fs)	KPTN (V334fs +1 more)	Duplication (frameshift variant +1 more)	Macrocephaly-developmental delay syndrome	GUncertain significance
Select item 1706595	NM_007059.4(KPTN):c.599+1G>A	KPTN	Single nucleotide variant (splice donor variant)	Macrocephaly-developmental delay syndrome	GPathogenic
Select item 1703138	NM_007059.4(KPTN):c.863G>C (p.Arg288Pro)	KPTN (R232P +1 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-developmental delay syndrome	GLikely pathogenic
Select item 1695610	NM_007059.4(KPTN):c.643C>T (p.Arg215Cys)	KPTN (R159C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1685918	NM_007059.4(KPTN):c.1183-1G>A	KPTN	Single nucleotide variant (splice acceptor variant)	Macrocephaly-developmental delay syndrome	GPathogenic
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 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 1660092	NM_007059.4(KPTN):c.710-19A>C	KPTN	Single nucleotide variant (intron variant)	Macrocephaly-developmental delay syndrome +1 more	GBenign
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 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 1598156	NM_007059.4(KPTN):c.710-14C>T	KPTN	Single nucleotide variant (intron variant)	Macrocephaly-developmental delay syndrome	GBenign
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 1580586	NM_007059.4(KPTN):c.394+12G>A	KPTN	Single nucleotide variant (intron variant)	Macrocephaly-developmental delay syndrome	GLikely benign
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 1547279	NM_007059.4(KPTN):c.788-14T>C	KPTN	Single nucleotide variant (intron variant)	Macrocephaly-developmental delay syndrome	GBenign
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 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 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 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 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 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 1446513	NM_007059.4(KPTN):c.42G>T (p.Leu14Phe)	KPTN (L14F)	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 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 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 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 1248024	NM_007059.4(KPTN):c.227-83T>C	KPTN	Single nucleotide variant (intron variant)	not provided	GBenign
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 1206726	NM_007059.4(KPTN):c.773_780del (p.Leu258fs)	KPTN (L202fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 1179592	NM_007059.4(KPTN):c.*2C>T	KPTN	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign

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