2890[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 149231	GRCh38/hg38 5q33.1-34(chr5:152443869-166104392)x1	ADAM19, ADRA1B +295 more	Copy number loss	See cases	GPathogenic
Select item 58390	GRCh38/hg38 5q33.1-34(chr5:152761187-167248053)x1	ADAM19, ADRA1B +280 more	Copy number loss	See cases	GPathogenic
Select item 148668	GRCh38/hg38 5q33.1-33.2(chr5:153202442-153715746)x1	GRIA1, LOC126807560 +3 more	Copy number loss	See cases	GUncertain significance
Select item 717700	NM_000827.4(GRIA1):c.81C>A (p.Ile27=)	GRIA1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3234547	NM_000827.4(GRIA1):c.82+335G>T	GRIA1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 218567	NM_000827.4(GRIA1):c.82+1259dup	GRIA1 (L10fs +1 more)	Duplication (frameshift variant +1 more)	not specified	GBenign
Select item 3034317	NM_000827.4(GRIA1):c.82+1274G>A	GRIA1 (G15S +1 more)	Single nucleotide variant (missense variant +1 more)	GRIA1-related disorder	GLikely benign
Select item 3064994	NM_000827.4(GRIA1):c.82+1305G>T	GRIA1 (C25F +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder, autosomal dominant 67	GBenign
Select item 2672256	NM_000827.4(GRIA1):c.82+1339G>A	GRIA1	Single nucleotide variant (synonymous variant +1 more)	Intellectual developmental disorder, autosomal dominant 67	GUncertain significance
Select item 3336521	NM_000827.4(GRIA1):c.121G>A (p.Ala41Thr)	GRIA1 (A41T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3282683	NM_000827.4(GRIA1):c.129A>T (p.Arg43Ser)	GRIA1 (R43S +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2223967	NM_000827.4(GRIA1):c.140C>T (p.Ser47Leu)	GRIA1 (S56L +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2444400	NM_000827.4(GRIA1):c.157C>T (p.Pro53Ser)	GRIA1 (P53S +2 more)	Single nucleotide variant (missense variant +2 more)	Intellectual developmental disorder, autosomal dominant 67	GUncertain significance
Select item 3102305	NM_000827.4(GRIA1):c.196G>A (p.Asp66Asn)	GRIA1 (D66N +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3237535	NM_000827.4(GRIA1):c.210G>A (p.Met70Ile)	GRIA1 (M1I +3 more)	Single nucleotide variant (missense variant +3 more)	Intellectual developmental disorder, autosomal dominant 67	GUncertain significance
Select item 3039828	NM_000827.4(GRIA1):c.240A>G (p.Lys80=)	GRIA1	Single nucleotide variant (synonymous variant +3 more)	GRIA1-related disorder	GLikely benign
Select item 1181366	NM_000827.4(GRIA1):c.244G>C (p.Val82Leu)	GRIA1 (V13L +3 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1878872	NM_000827.4(GRIA1):c.248A>C (p.Tyr83Ser)	GRIA1 (Y14S +3 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 754493	NM_000827.4(GRIA1):c.249T>C (p.Tyr83=)	GRIA1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2631184	NM_000827.4(GRIA1):c.255C>G (p.Ile85Met)	GRIA1 (I16M +3 more)	Single nucleotide variant (missense variant +3 more)	GRIA1-related disorder	GUncertain significance
Select item 1699221	NM_000827.4(GRIA1):c.269A>C (p.Glu90Ala)	GRIA1 (E100A +3 more)	Single nucleotide variant (missense variant +3 more)	Intellectual developmental disorder, autosomal dominant 67	GUncertain significance
Select item 2589418	NM_000827.4(GRIA1):c.271C>T (p.Arg91Cys)	GRIA1 (R91C +3 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GLikely benign
Select item 3102310	NM_000827.4(GRIA1):c.272G>A (p.Arg91His)	GRIA1 (R100H +3 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3233590	NM_000827.4(GRIA1):c.332C>T (p.Pro111Leu)	GRIA1 (P111L +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2672102	NM_000827.4(GRIA1):c.341C>T (p.Pro114Leu)	GRIA1 (P114L +4 more)	Single nucleotide variant (missense variant +2 more)	Intellectual developmental disorder, autosomal dominant 67	GUncertain significance
Select item 3282682	NM_000827.4(GRIA1):c.346G>T (p.Asp116Tyr)	GRIA1 (D125Y +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2457092	NM_000827.4(GRIA1):c.377G>A (p.Arg126His)	GRIA1 (R57H +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2024127	NM_000827.4(GRIA1):c.377G>T (p.Arg126Leu)	GRIA1 (R126L +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 2655974	NM_000827.4(GRIA1):c.390G>T (p.Gln130His)	GRIA1 (Q130H +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1313330	NM_000827.4(GRIA1):c.452C>G (p.Ala151Gly)	GRIA1 (A151G +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3102311	NM_000827.4(GRIA1):c.458G>A (p.Arg153Gln)	GRIA1 (R163Q +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3046682	NM_000827.4(GRIA1):c.468C>T (p.Ser156=)	GRIA1	Single nucleotide variant (synonymous variant +1 more)	GRIA1-related disorder	GLikely benign
Select item 3102312	NM_000827.4(GRIA1):c.469G>A (p.Val157Ile)	GRIA1 (V166I +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3059187	NM_000827.4(GRIA1):c.531T>C (p.Ile177=)	GRIA1	Single nucleotide variant (synonymous variant +1 more)	GRIA1-related disorder	GBenign
Select item 2493174	NM_000827.4(GRIA1):c.578A>G (p.Glu193Gly)	GRIA1 (E124G +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3102313	NM_000827.4(GRIA1):c.580A>G (p.Lys194Glu)	GRIA1 (K194E +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3364199	NM_000827.4(GRIA1):c.587A>G (p.Lys196Arg)	GRIA1 (K101R +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2273861	NM_000827.4(GRIA1):c.592C>T (p.Arg198Trp)	GRIA1 (R207W +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2725410	NM_000827.4(GRIA1):c.601G>A (p.Val201Met)	GRIA1 (V121M +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1348528	NM_000827.4(GRIA1):c.617C>T (p.Ser206Leu)	GRIA1 (S137L +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2348125	NM_000827.4(GRIA1):c.622C>T (p.Arg208Cys)	GRIA1 (R217C +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 718744	NM_000827.4(GRIA1):c.623G>C (p.Arg208Pro)	GRIA1 (R128P +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3102314	NM_000827.4(GRIA1):c.673G>A (p.Gly225Ser)	GRIA1 (G145S +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 754701	NM_000827.4(GRIA1):c.700-9C>T	GRIA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3343035	NM_000827.4(GRIA1):c.703T>A (p.Phe235Ile)	GRIA1 (F140I +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 720942	NM_000827.4(GRIA1):c.714T>C (p.Ile238=)	GRIA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2502741	NM_000827.4(GRIA1):c.740G>A (p.Gly247Asp)	GRIA1 (G152D +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 720943	NM_000827.4(GRIA1):c.741C>A (p.Gly247=)	GRIA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2136237	NM_000827.4(GRIA1):c.742G>T (p.Ala248Ser)	GRIA1 (A179S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2391362	NM_000827.4(GRIA1):c.746A>G (p.Asn249Ser)	GRIA1 (N154S +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2432272	NM_000827.4(GRIA1):c.788C>T (p.Pro263Leu)	GRIA1 (P168L +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2500466	NM_000827.4(GRIA1):c.806A>C (p.Gln269Pro)	GRIA1 (Q174P +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 723123	NM_000827.4(GRIA1):c.816T>C (p.Asn272=)	GRIA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2466178	NM_000827.4(GRIA1):c.820G>C (p.Asp274His)	GRIA1 (D179H +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3051517	NM_000827.4(GRIA1):c.826C>G (p.Arg276Gly)	GRIA1 (R181G +5 more)	Single nucleotide variant (missense variant +1 more)	GRIA1-related disorder	GUncertain significance
Select item 722938	NM_000827.4(GRIA1):c.843G>A (p.Val281=)	GRIA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3037836	NM_000827.4(GRIA1):c.848G>A (p.Trp283Ter)	GRIA1 (W188* +5 more)	Single nucleotide variant (nonsense +1 more)	GRIA1-related disorder	GLikely pathogenic
Select item 3035120	NM_000827.4(GRIA1):c.862-6C>T	GRIA1	Single nucleotide variant (intron variant)	GRIA1-related disorder	GLikely benign
Select item 2241146	NM_000827.4(GRIA1):c.862-5A>G	GRIA1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2572899	NM_000827.4(GRIA1):c.865A>G (p.Thr289Ala)	GRIA1 (T194A +5 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 744849	NM_000827.4(GRIA1):c.870T>C (p.Ser290=)	GRIA1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 785152	NM_000827.4(GRIA1):c.882C>T (p.Tyr294=)	GRIA1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3343445	NM_000827.4(GRIA1):c.914A>T (p.Gln305Leu)	GRIA1 (Q210L +5 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2480847	NM_000827.4(GRIA1):c.923G>A (p.Arg308Gln)	GRIA1 (R239Q +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1722787	NM_000827.4(GRIA1):c.932G>A (p.Arg311Lys)	GRIA1 (R216K +5 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2634139	NM_000827.4(GRIA1):c.952G>C (p.Gly318Arg)	GRIA1 (G223R +5 more)	Single nucleotide variant (missense variant +2 more)	GRIA1-related disorder	GUncertain significance
Select item 746608	NM_000827.4(GRIA1):c.954G>C (p.Gly318=)	GRIA1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3336176	NM_000827.4(GRIA1):c.968G>C (p.Cys323Ser)	GRIA1 (C228S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2219099	NM_000827.4(GRIA1):c.986T>C (p.Val329Ala)	GRIA1 (V260A +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2507132	NM_000827.4(GRIA1):c.989C>T (p.Pro330Leu)	GRIA1 (P235L +5 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3255158	NM_000827.4(GRIA1):c.992G>A (p.Trp331Ter)	GRIA1 (W236* +5 more)	Single nucleotide variant (nonsense +2 more)	Intellectual developmental disorder, autosomal dominant 67	GUncertain significance
Select item 2504818	NM_000827.4(GRIA1):c.994G>A (p.Gly332Ser)	GRIA1 (G237S +5 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 983361	NM_000827.4(GRIA1):c.1034G>A (p.Arg345Gln)	GRIA1 (R250Q +6 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GUncertain significance
Select item 3363929	NM_000827.4(GRIA1):c.1042G>T (p.Gly348Cys)	GRIA1 (G253C +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 768046	NM_000827.4(GRIA1):c.1056C>T (p.Asn352=)	GRIA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1341922	NM_000827.4(GRIA1):c.1079G>A (p.Arg360His)	GRIA1 (R265H +6 more)	Single nucleotide variant (missense variant +1 more)	See cases	GUncertain significance
Select item 2500422	NM_000827.4(GRIA1):c.1087A>T (p.Asn363Tyr)	GRIA1 (N268Y +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3038646	NM_000827.4(GRIA1):c.1122C>T (p.Asp374=)	GRIA1	Single nucleotide variant (synonymous variant +1 more)	GRIA1-related disorder	GLikely benign
Select item 1693467	NM_000827.4(GRIA1):c.1129C>T (p.Arg377Ter)	GRIA1 (R377* +6 more)	Single nucleotide variant (nonsense +1 more)	Intellectual developmental disorder, autosomal recessive 76	GPathogenic
Select item 3025279	NM_000827.4(GRIA1):c.1130G>A (p.Arg377Gln)	GRIA1 (R282Q +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3233687	NM_000827.4(GRIA1):c.1135-7T>C	GRIA1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2432273	NM_000827.4(GRIA1):c.1157A>G (p.Asp386Gly)	GRIA1 (D291G +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2692836	NM_000827.4(GRIA1):c.1172C>A (p.Ala391Glu)	GRIA1 (A391E +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1313239	NM_000827.4(GRIA1):c.1172C>T (p.Ala391Val)	GRIA1 (A296V +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2214819	NM_000827.4(GRIA1):c.1183G>A (p.Ala395Thr)	GRIA1 (A300T +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 709216	NM_000827.4(GRIA1):c.1185C>T (p.Ala395=)	GRIA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2691630	NM_000827.4(GRIA1):c.1215G>C (p.Gln405His)	GRIA1 (Q310H +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282033	NM_000827.4(GRIA1):c.1220G>A (p.Arg407Lys)	GRIA1 (R327K +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3068933	NM_000827.4(GRIA1):c.1246-5T>C	GRIA1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2432274	NM_000827.4(GRIA1):c.1264C>A (p.Leu422Ile)	GRIA1 (L327I +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2366223	NM_000827.4(GRIA1):c.1279A>C (p.Asn427His)	GRIA1 (N332H +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2262301	NM_000827.4(GRIA1):c.1328C>T (p.Ala443Val)	GRIA1 (A363V +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 776082	NM_000827.4(GRIA1):c.1329G>A (p.Ala443=)	GRIA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2577669	NM_000827.4(GRIA1):c.1348G>T (p.Val450Leu)	GRIA1 (V355L +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3345279	NM_000827.4(GRIA1):c.1379G>A (p.Ser460Asn)	GRIA1 (S365N +6 more)	Single nucleotide variant (missense variant +1 more)	GRIA1-related disorder	GUncertain significance
Select item 1338918	NM_000827.4(GRIA1):c.1412C>T (p.Thr471Met)	GRIA1 (T376M +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2429796	NM_000827.4(GRIA1):c.1444G>T (p.Val482Phe)	GRIA1 (V387F +6 more)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	GLikely benign

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