17597[HGNC] - ClinVar

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Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 148904	GRCh38/hg38 1p34.3(chr1:34753938-36055310)x1	AGO1, AGO3 +70 more	Copy number loss	See cases	GLikely pathogenic
Select item 3181963	NM_014284.3(NCDN):c.74C>T (p.Ala25Val)	NCDN (A25V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2434073	NM_014284.3(NCDN):c.127C>T (p.Leu43Phe)	NCDN (L26F +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with infantile epileptic spasms	GUncertain significance
Select item 1701099	NM_014284.3(NCDN):c.175-4A>G	NCDN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2626891	NM_014284.3(NCDN):c.202A>C (p.Ile68Leu)	NCDN (I51L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3344827	NM_014284.3(NCDN):c.213A>T (p.Lys71Asn)	NCDN (K54N +1 more)	Single nucleotide variant (missense variant)	NCDN-related disorder	GUncertain significance
Select item 1684580	NM_014284.3(NCDN):c.216dup (p.Arg73fs)	NCDN (R56fs +1 more)	Duplication (frameshift variant)	Neurodevelopmental disorder with infantile epileptic spasms	GLikely pathogenic
Select item 1879083	NM_014284.3(NCDN):c.225G>T (p.Arg75=)	NCDN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1694506	NM_014284.3(NCDN):c.240C>T (p.Val80=)	NCDN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1333436	NM_014284.3(NCDN):c.259C>A (p.Arg87Ser)	NCDN (R70S +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with infantile epileptic spasms	GUncertain significance
Select item 2638646	NM_014284.3(NCDN):c.270C>A (p.Thr90=)	NCDN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2554919	NM_014284.3(NCDN):c.311G>A (p.Arg104Gln)	NCDN (R87Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067426	NM_014284.3(NCDN):c.363C>T (p.Ala121=)	NCDN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3181947	NM_014284.3(NCDN):c.418C>T (p.Arg140Trp)	NCDN (R140W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2849293	NM_014284.3(NCDN):c.419G>C (p.Arg140Pro)	NCDN (R123P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2405667	NM_014284.3(NCDN):c.419G>A (p.Arg140Gln)	NCDN (R123Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181954	NM_014284.3(NCDN):c.426C>A (p.Asp142Glu)	NCDN (D125E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470781	NM_014284.3(NCDN):c.442C>T (p.Arg148Cys)	NCDN (R131C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2434072	NM_014284.3(NCDN):c.490G>A (p.Gly164Ser)	NCDN (G147S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2248408	NM_014284.3(NCDN):c.565G>A (p.Gly189Ser)	NCDN (G172S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479356	NM_014284.3(NCDN):c.644A>G (p.Glu215Gly)	NCDN (E215G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1805253	NM_014284.3(NCDN):c.646C>T (p.Pro216Ser)	NCDN (P199S +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with infantile epileptic spasms	GLikely benign
Select item 3181960	NM_014284.3(NCDN):c.649G>A (p.Asp217Asn)	NCDN (D200N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638647	NM_014284.3(NCDN):c.661G>A (p.Val221Met)	NCDN (V204M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2394820	NM_014284.3(NCDN):c.661G>C (p.Val221Leu)	NCDN (V204L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1974572	NM_014284.3(NCDN):c.676A>T (p.Ser226Cys)	NCDN (S226C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3181968	NM_014284.3(NCDN):c.757G>A (p.Val253Met)	NCDN (V236M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461748	NM_014284.3(NCDN):c.775C>T (p.Arg259Trp)	NCDN (R242W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181971	NM_014284.3(NCDN):c.776G>A (p.Arg259Gln)	NCDN (R259Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558147	NM_014284.3(NCDN):c.848A>G (p.Lys283Arg)	NCDN (K283R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638648	NM_014284.3(NCDN):c.860G>A (p.Arg287His)	NCDN (R270H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2388074	NM_014284.3(NCDN):c.877G>A (p.Gly293Ser)	NCDN (G293S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181982	NM_014284.3(NCDN):c.956G>A (p.Arg319Gln)	NCDN (R302Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210583	NM_014284.3(NCDN):c.974C>T (p.Thr325Met)	NCDN (T308M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2527223	NM_014284.3(NCDN):c.980C>T (p.Thr327Met)	NCDN (T310M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1320191	NM_014284.3(NCDN):c.990dup (p.Glu331fs)	NCDN (E314fs +1 more)	Duplication (frameshift variant)	Neurodevelopmental disorder with infantile epileptic spasms	GLikely pathogenic
Select item 2635255	NM_014284.3(NCDN):c.1004C>G (p.Thr335Ser)	NCDN (T318S +1 more)	Single nucleotide variant (missense variant)	NCDN-related disorder	GUncertain significance
Select item 3251103	NM_014284.3(NCDN):c.1086G>A (p.Val362=)	NCDN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025892	NM_014284.3(NCDN):c.1098C>T (p.Ser366=)	NCDN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2510146	NM_014284.3(NCDN):c.1120G>T (p.Ala374Ser)	NCDN (A357S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067994	NM_014284.3(NCDN):c.1171T>C (p.Phe391Leu)	NCDN (F374L +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with infantile epileptic spasms	GUncertain significance
Select item 3181916	NM_014284.3(NCDN):c.1268G>T (p.Arg423Leu)	NCDN (R423L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2689542	NM_014284.3(NCDN):c.1268G>A (p.Arg423His)	NCDN (R406H +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with infantile epileptic spasms	GUncertain significance
Select item 984912	NM_014284.3(NCDN):c.1297G>C (p.Glu433Gln)	NCDN (E416Q +1 more)	Single nucleotide variant (missense variant)	Intellectual disability +2 more	GLikely pathogenic
Select item 3298757	NM_014284.3(NCDN):c.1312C>T (p.Leu438Phe)	NCDN (L421F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405199	NM_014284.3(NCDN):c.1349C>T (p.Thr450Ile)	NCDN (T433I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2323585	NM_014284.3(NCDN):c.1355C>G (p.Pro452Arg)	NCDN (P435R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3054111	NM_014284.3(NCDN):c.1383C>T (p.Leu461=)	NCDN	Single nucleotide variant (synonymous variant)	NCDN-related disorder	GLikely benign
Select item 3068248	NM_014284.3(NCDN):c.1384C>T (p.Arg462Trp)	NCDN (R445W +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with infantile epileptic spasms	GUncertain significance
Select item 3239111	NM_014284.3(NCDN):c.1429C>T (p.Pro477Ser)	NCDN (P460S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 984913	NM_014284.3(NCDN):c.1433G>A (p.Arg478Gln)	NCDN (R461Q +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia +2 more	GLikely pathogenic
Select item 2477455	NM_014284.3(NCDN):c.1440C>G (p.Ile480Met)	NCDN (I463M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2434074	NM_014284.3(NCDN):c.1482C>G (p.Phe494Leu)	NCDN (F477L +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with infantile epileptic spasms	GUncertain significance
Select item 984914	NM_014284.3(NCDN):c.1492T>C (p.Trp498Arg)	NCDN (W481R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GLikely pathogenic
Select item 2638649	NM_014284.3(NCDN):c.1524G>A (p.Ser508=)	NCDN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3363194	NM_014284.3(NCDN):c.1598C>T (p.Pro533Leu)	NCDN (P516L +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with infantile epileptic spasms	GLikely pathogenic
Select item 2638650	NM_014284.3(NCDN):c.1599G>A (p.Pro533=)	NCDN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2398322	NM_014284.3(NCDN):c.1678C>G (p.Gln560Glu)	NCDN (Q543E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638651	NM_014284.3(NCDN):c.1753+1G>A	NCDN	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2603573	NM_014284.3(NCDN):c.1828C>T (p.Arg610Trp)	NCDN (R593W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181933	NM_014284.3(NCDN):c.1829G>A (p.Arg610Gln)	NCDN (R593Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638652	NM_014284.3(NCDN):c.1840G>A (p.Gly614Ser)	NCDN (G597S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3352475	NM_014284.3(NCDN):c.1848C>T (p.Asp616=)	NCDN	Single nucleotide variant (synonymous variant)	NCDN-related disorder	GLikely benign
Select item 2535351	NM_014284.3(NCDN):c.1871C>T (p.Pro624Leu)	NCDN (P624L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638653	NM_014284.3(NCDN):c.1872T>C (p.Pro624=)	NCDN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 984915	NM_014284.3(NCDN):c.1955C>T (p.Pro652Leu)	NCDN (P635L +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia +2 more	GLikely pathogenic
Select item 2638654	NM_014284.3(NCDN):c.1968C>T (p.Pro656=)	NCDN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2521769	NM_014284.3(NCDN):c.1969G>A (p.Ala657Thr)	NCDN (A657T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638655	NM_014284.3(NCDN):c.1992G>A (p.Pro664=)	NCDN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2616706	NM_014284.3(NCDN):c.2030A>G (p.Asn677Ser)	NCDN (N660S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1694507	NM_014284.3(NCDN):c.2043C>T (p.Pro681=)	NCDN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1694508	NM_014284.3(NCDN):c.2138C>T (p.Thr713Met)	NCDN (T696M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2582855	NM_014284.3(NCDN):c.2148C>T (p.His716=)	NCDN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1808707	GRCh37/hg19 1p34.3(chr1:35104233-37357913)x1	ADPRS, AGO1 +32 more	Copy number loss	not provided	GPathogenic
Select item 1526893	GRCh37/hg19 1p34.3(chr1:35950860-36635695)	ADPRS, AGO1 +12 more	Copy number gain	not specified	GUncertain significance
Select item 1526873	GRCh37/hg19 1p34.3(chr1:35950860-36465764)	AGO1, AGO3 +7 more	Copy number loss	not specified	GUncertain significance
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 686407	GRCh37/hg19 1p34.3(chr1:34915050-36163162)x3	DLGAP3, GJA4 +13 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 625764	GRCh37/hg19 1p35.1-34.3(chr1:32859415-36454915)	YARS1, ZBTB8A +41 more	Copy number loss	not provided	GPathogenic
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395434	GRCh37/hg19 1p34.3(chr1:34830287-36945093)x1	ADPRS, AGO1 +31 more	Copy number loss	See cases	GPathogenic

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Items: 86