4581[HGNC] - ClinVar

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Items: 72

	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 149964	GRCh38/hg38 1p34.3(chr1:35934217-36821999)x4	ADPRS, AGO3 +50 more	Copy number gain	See cases	GLikely pathogenic
Select item 3102423	NM_000831.4(GRIK3):c.2671G>A (p.Val891Ile)	GRIK3 (V891I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395515	NM_000831.4(GRIK3):c.2600G>A (p.Arg867His)	GRIK3 (R867H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102421	NM_000831.4(GRIK3):c.2590G>A (p.Asp864Asn)	GRIK3 (D864N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102420	NM_000831.4(GRIK3):c.2578A>C (p.Ser860Arg)	GRIK3 (S860R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467623	NM_000831.4(GRIK3):c.2567G>A (p.Arg856His)	GRIK3 (R856H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638675	NM_000831.4(GRIK3):c.2565+28A>G	GRIK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3282748	NM_000831.4(GRIK3):c.2546A>G (p.Lys849Arg)	GRIK3 (K849R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 435373	NM_000831.4(GRIK3):c.2456A>G (p.Gln819Arg)	GRIK3 (Q819R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547217	NM_000831.4(GRIK3):c.2407A>G (p.Ser803Gly)	GRIK3 (S803G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616482	NM_000831.4(GRIK3):c.2402G>A (p.Arg801Gln)	GRIK3 (R801Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102419	NM_000831.4(GRIK3):c.2389G>A (p.Glu797Lys)	GRIK3 (E797K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102418	NM_000831.4(GRIK3):c.2329G>A (p.Asp777Asn)	GRIK3 (D777N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282746	NM_000831.4(GRIK3):c.2324A>T (p.Tyr775Phe)	GRIK3 (Y775F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727964	NM_000831.4(GRIK3):c.2314+8A>T	GRIK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2272895	NM_000831.4(GRIK3):c.2191A>G (p.Thr731Ala)	GRIK3 (T731A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638676	NM_000831.4(GRIK3):c.2166C>T (p.Asn722=)	GRIK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2204857	NM_000831.4(GRIK3):c.1987G>A (p.Val663Met)	GRIK3 (V663M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222085	NM_000831.4(GRIK3):c.1985C>T (p.Thr662Ile)	GRIK3 (T662I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102417	NM_000831.4(GRIK3):c.1913T>C (p.Ile638Thr)	GRIK3 (I638T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282745	NM_000831.4(GRIK3):c.1804G>A (p.Glu602Lys)	GRIK3 (E602K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638677	NM_000831.4(GRIK3):c.1545C>T (p.Ala515=)	GRIK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2607773	NM_000831.4(GRIK3):c.1525G>A (p.Asp509Asn)	GRIK3 (D509N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474222	NM_000831.4(GRIK3):c.1509G>T (p.Met503Ile)	GRIK3 (M503I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717890	NM_000831.4(GRIK3):c.1410A>G (p.Leu470=)	GRIK3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3102415	NM_000831.4(GRIK3):c.1387G>A (p.Glu463Lys)	GRIK3 (E463K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604665	NM_000831.4(GRIK3):c.1382G>A (p.Arg461Gln)	GRIK3 (R461Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 252498	NM_000831.4(GRIK3):c.1268G>A (p.Arg423Gln)	GRIK3 (R423Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3102414	NM_000831.4(GRIK3):c.1234G>A (p.Asp412Asn)	GRIK3 (D412N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711826	NM_000831.4(GRIK3):c.1105-4G>A	GRIK3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2569166	NM_000831.4(GRIK3):c.1031C>A (p.Thr344Asn)	GRIK3 (T344N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102429	NM_000831.4(GRIK3):c.926G>A (p.Arg309Gln)	GRIK3 (R309Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 732630	NM_000831.4(GRIK3):c.879G>A (p.Ser293=)	GRIK3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2292348	NM_000831.4(GRIK3):c.874G>A (p.Val292Ile)	GRIK3 (V292I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388612	NM_000831.4(GRIK3):c.857A>G (p.Asn286Ser)	GRIK3 (N286S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282744	NM_000831.4(GRIK3):c.829G>A (p.Val277Met)	GRIK3 (V277M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731061	NM_000831.4(GRIK3):c.828C>T (p.Gly276=)	GRIK3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2559781	NM_000831.4(GRIK3):c.817C>A (p.Arg273Ser)	GRIK3 (R273S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379310	NM_000831.4(GRIK3):c.810G>C (p.Glu270Asp)	GRIK3 (E270D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777904	NM_000831.4(GRIK3):c.807G>A (p.Leu269=)	GRIK3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 69220	NM_000831.4(GRIK3):c.694G>A (p.Asp232Asn)	GRIK3 (D232N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3102428	NM_000831.4(GRIK3):c.683G>A (p.Arg228His)	GRIK3 (R228H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219776	NM_000831.4(GRIK3):c.625A>G (p.Ile209Val)	GRIK3 (I209V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2478777	NM_000831.4(GRIK3):c.619C>T (p.Leu207Phe)	GRIK3 (L207F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102426	NM_000831.4(GRIK3):c.614G>A (p.Arg205His)	GRIK3 (R205H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775051	NM_000831.4(GRIK3):c.562C>T (p.Leu188=)	GRIK3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3282750	NM_000831.4(GRIK3):c.487A>G (p.Ile163Val)	GRIK3 (I163V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 737092	NM_000831.4(GRIK3):c.468C>T (p.Tyr156=)	GRIK3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3102425	NM_000831.4(GRIK3):c.463G>A (p.Asp155Asn)	GRIK3 (D155N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786984	NM_000831.4(GRIK3):c.453C>T (p.Asn151=)	GRIK3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3102424	NM_000831.4(GRIK3):c.407G>A (p.Arg136His)	GRIK3 (R136H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373560	NM_000831.4(GRIK3):c.361G>A (p.Val121Ile)	GRIK3 (V121I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567789	NM_000831.4(GRIK3):c.331G>A (p.Gly111Ser)	GRIK3 (G111S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 742078	NM_000831.4(GRIK3):c.189T>C (p.Ser63=)	GRIK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2470925	NM_000831.4(GRIK3):c.166G>A (p.Glu56Lys)	GRIK3 (E56K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559919	NM_000831.4(GRIK3):c.134C>A (p.Ala45Glu)	GRIK3 (A45E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722099	NM_000831.4(GRIK3):c.129G>A (p.Glu43=)	GRIK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 736740	NM_000831.4(GRIK3):c.84C>A (p.Asp28Glu)	GRIK3 (D28E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3282747	NM_000831.4(GRIK3):c.72C>G (p.Phe24Leu)	GRIK3 (F24L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611101	NM_000831.4(GRIK3):c.52G>A (p.Gly18Arg)	GRIK3 (G18R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102422	NM_000831.4(GRIK3):c.25C>G (p.Arg9Gly)	GRIK3 (R9G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102416	NM_000831.4(GRIK3):c.17G>A (p.Arg6Gln)	GRIK3 (R6Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808707	GRCh37/hg19 1p34.3(chr1:35104233-37357913)x1	ADPRS, AGO1 +32 more	Copy number loss	not provided	GPathogenic
Select item 1526915	GRCh37/hg19 1p34.3(chr1:37469062-37699272)	GRIK3	Copy number loss	not specified	GUncertain significance
Select item 1526904	GRCh37/hg19 1p34.3(chr1:36041366-39112237)	ADPRS, AGO1 +37 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 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	NKAIN1, PLA2G2E +783 more	Copy number gain	Global developmental delay +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	GJB3, PIK3R3 +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

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Items: 72