11133[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	LOC129391127, LOC129391128 +363 more	Copy number gain	See cases	GPathogenic
Select item 60103	GRCh38/hg38 19q13.32-13.33(chr19:46458122-47683579)x1	AP2S1, ARHGAP35 +123 more	Copy number loss	See cases	GPathogenic
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	LOC130064822, LOC130064823 +290 more	Copy number gain	See cases	GPathogenic
Select item 149907	GRCh38/hg38 19q13.32-13.33(chr19:47253630-47744714)x3	BICRA, BICRA-AS2 +45 more	Copy number gain	See cases	GLikely benign
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 1179592	NM_007059.4(KPTN):c.*2C>T	KPTN	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
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 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 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 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 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 1030188	NM_007059.4(KPTN):c.1234G>A (p.Val412Met)	KPTN (V412M +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 2251579	NM_007059.4(KPTN):c.1183-42_1188del	KPTN	Deletion (splice acceptor variant)	Inborn genetic diseases	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 730104	NM_007059.4(KPTN):c.1182+8C>T	KPTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 808605	NM_007059.4(KPTN):c.1168G>A (p.Val390Met)	KPTN (V334M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
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 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 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 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 1805215	NM_007059.4(KPTN):c.1000-4G>A	KPTN	Single nucleotide variant (intron variant)	Macrocephaly-developmental delay syndrome	GUncertain significance
Select item 435675	NM_007059.4(KPTN):c.1000-5C>T	KPTN	Single nucleotide variant (intron variant)	not specified	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 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 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 2578834	NM_007059.4(KPTN):c.981G>A (p.Leu327=)	KPTN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 474858	NM_007059.4(KPTN):c.968G>A (p.Arg323Gln)	KPTN (R323Q +1 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-developmental delay syndrome	GUncertain significance
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 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 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 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 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 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 452093	NM_007059.4(KPTN):c.863+5G>A	KPTN	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
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 916244	NM_007059.4(KPTN):c.863G>A (p.Arg288Gln)	KPTN (R232Q +1 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-developmental delay syndrome +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 435682	NM_007059.4(KPTN):c.823G>A (p.Val275Met)	KPTN (V275M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	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 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 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 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 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)	Inborn genetic diseases +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 1030189	NM_007059.4(KPTN):c.754C>T (p.Arg252Ter)	KPTN (R196* +1 more)	Single nucleotide variant (nonsense +1 more)	Macrocephaly-developmental delay syndrome	GLikely pathogenic
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 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 3042780	NM_007059.4(KPTN):c.709+9C>T	KPTN	Single nucleotide variant (intron variant)	KPTN-related disorder	GLikely benign
Select item 435677	NM_007059.4(KPTN):c.709+7G>C	KPTN	Single nucleotide variant (intron variant)	not specified	GUncertain significance
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 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 987326	NM_007059.4(KPTN):c.692del (p.Val231fs)	KPTN (V175fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
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 504486	NM_007059.4(KPTN):c.665dup (p.Ser223fs)	KPTN (S167fs +1 more)	Duplication (frameshift variant +1 more)	Macrocephaly-developmental delay syndrome	GPathogenic
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 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 1706595	NM_007059.4(KPTN):c.599+1G>A	KPTN	Single nucleotide variant (splice donor variant)	Macrocephaly-developmental delay syndrome	GPathogenic
Select item 279826	NM_007059.4(KPTN):c.597_598dup (p.Ser200fs)	KPTN (S200fs +1 more)	Duplication (frameshift variant)	Macrocephaly-developmental delay syndrome +2 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 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 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 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 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

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