ClinVar for MedGen (Select 437111) - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366962	NM_007325.5(GRIA3):c.1185+5_1185+8del	GRIA3	Microsatellite (splice donor variant)	Syndromic X-linked intellectual disability 94	GUncertain significance
Select item 3359028	NM_000828.5(GRIA3):c.2392T>C (p.Trp798Arg)	GRIA3 (W798R)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability 94	GUncertain significance
Select item 3255159	NM_007325.5(GRIA3):c.793G>A (p.Ala265Thr)	GRIA3 (A265T)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 94	GUncertain significance
Select item 3236820	NM_007325.5(GRIA3):c.1373T>C (p.Leu458Pro)	GRIA3 (L458P)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 94	GLikely pathogenic
Select item 3075673	NM_007325.5(GRIA3):c.1170_1173del (p.Ser391fs)	GRIA3 (S391fs)	Deletion (frameshift variant)	Syndromic X-linked intellectual disability 94	GLikely pathogenic
Select item 3066252	NM_007325.5(GRIA3):c.1367T>C (p.Val456Ala)	GRIA3 (V456A)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 94	GUncertain significance
Select item 3066119	NM_007325.5(GRIA3):c.880G>T (p.Glu294Ter)	GRIA3 (E294*)	Single nucleotide variant (nonsense)	Syndromic X-linked intellectual disability 94	GUncertain significance
Select item 3065536	NM_007325.5(GRIA3):c.628G>C (p.Asp210His)	GRIA3 (D210H)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 94	GUncertain significance
Select item 3024301	NM_000828.5(GRIA3):c.2359G>A (p.Glu787Lys)	GRIA3 (E787K)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability 94	GPathogenic
Select item 2959440	NM_007325.5(GRIA3):c.123G>A (p.Met41Ile)	GRIA3 (M41I)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 94 +1 more	GConflicting classifications of pathogenicity
Select item 2689159	NM_000828.5(GRIA3):c.2399A>G (p.Tyr800Cys)	GRIA3 (Y800C)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability 94	GUncertain significance
Select item 2585422	NM_007325.5(GRIA3):c.536A>G (p.Glu179Gly)	GRIA3 (E179G)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 94	GUncertain significance
Select item 2584384	NM_007325.5(GRIA3):c.1949C>T (p.Ala650Val)	GRIA3 (A650V)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 94	GLikely pathogenic
Select item 2581024	NM_007325.5(GRIA3):c.284C>T (p.Ser95Leu)	GRIA3 (S95L)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 94	GLikely benign
Select item 2506483	NM_007325.5(GRIA3):c.307G>T (p.Gly103Ter)	GRIA3 (G103*)	Single nucleotide variant (nonsense)	Syndromic X-linked intellectual disability 94	GLikely pathogenic
Select item 2501005	NM_007325.5(GRIA3):c.1581C>A (p.Ser527Arg)	GRIA3 (S527R)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 94	GUncertain significance
Select item 2501004	NM_007325.5(GRIA3):c.1531A>G (p.Ile511Val)	GRIA3 (I511V)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 94	GUncertain significance
Select item 2501003	NM_007325.5(GRIA3):c.783G>A (p.Met261Ile)	GRIA3 (M261I)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 94	GUncertain significance
Select item 2500995	NM_007325.5(GRIA3):c.1973T>C (p.Val658Ala)	GRIA3 (V658A)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 94	GLikely pathogenic
Select item 2500994	NM_007325.5(GRIA3):c.1957G>T (p.Ala653Ser)	GRIA3 (A653S)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 94	GPathogenic
Select item 2500993	NM_007325.5(GRIA3):c.1679T>C (p.Val560Ala)	GRIA3 (V560A)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 94	GUncertain significance
Select item 1952262	NM_007325.5(GRIA3):c.2171G>A (p.Arg724Gln)	GRIA3 (R724Q)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 94 +1 more	GUncertain significance
Select item 1804942	NM_007325.5(GRIA3):c.1544G>A (p.Arg515His)	GRIA3 (R515H)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 94	GLikely pathogenic
Select item 1802593	NM_007325.5(GRIA3):c.1261G>C (p.Glu421Gln)	GRIA3 (E421Q)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 94	GUncertain significance
Select item 1698841	NM_007325.5(GRIA3):c.949A>G (p.Ile317Val)	GRIA3 (I317V)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 94	GUncertain significance
Select item 1685862	NM_007325.5(GRIA3):c.1450_1453dup (p.Pro485fs)	GRIA3 (P485fs)	Duplication (frameshift variant)	Syndromic X-linked intellectual disability 94	GPathogenic
Select item 1527932	NM_007325.5(GRIA3):c.1180C>T (p.Arg394Ter)	GRIA3 (R394*)	Single nucleotide variant (nonsense)	Syndromic X-linked intellectual disability 94 +1 more	GPathogenic/Likely pathogenic
Select item 1493330	NM_007325.5(GRIA3):c.424C>T (p.Arg142Cys)	GRIA3 (R142C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1344571	NM_007325.5(GRIA3):c.1844C>T (p.Ala615Val)	GRIA3 (A615V)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 94	GPathogenic
Select item 1339810	NM_007325.5(GRIA3):c.609G>T (p.Arg203Ser)	GRIA3 (R203S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1334442	NM_007325.5(GRIA3):c.2038_2040delinsTGT (p.Gly680Cys)	GRIA3 (G680C)	Indel (missense variant)	Syndromic X-linked intellectual disability 94	GPathogenic
Select item 1285307	NM_007325.5(GRIA3):c.751-16T>C	GRIA3	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability 94 +1 more	GBenign
Select item 1285306	NM_007325.5(GRIA3):c.384dup (p.Phe129fs)	GRIA3 (F129fs)	Duplication (frameshift variant)	Syndromic X-linked intellectual disability 94	GBenign
Select item 1162912	NM_007325.5(GRIA3):c.826G>C (p.Glu276Gln)	GRIA3 (E276Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1031666	NM_007325.5(GRIA3):c.268+16792G>A	GRIA3 (G139S)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability 94	GUncertain significance
Select item 1028874	NM_007325.5(GRIA3):c.69G>A (p.Leu23=)	GRIA3	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability 94 +1 more	GConflicting classifications of pathogenicity
Select item 1028873	NM_007325.5(GRIA3):c.1209A>C (p.Glu403Asp)	GRIA3 (E403D)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 94	GUncertain significance
Select item 984612	NM_007325.5(GRIA3):c.2098G>A (p.Glu700Lys)	GRIA3 (E700K)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 94 +1 more	GConflicting classifications of pathogenicity
Select item 982834	NM_007325.5(GRIA3):c.812A>G (p.Gln271Arg)	GRIA3 (Q271R)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 94	GUncertain significance
Select item 981269	NM_007325.5(GRIA3):c.1348C>T (p.Arg450Ter)	GRIA3 (R450*)	Single nucleotide variant (nonsense)	Intellectual disability +2 more	GConflicting classifications of pathogenicity
Select item 804081	NM_007325.5(GRIA3):c.268+16762dup	GRIA3 (A129fs)	Duplication (frameshift variant +1 more)	Syndromic X-linked intellectual disability 94	GBenign
Select item 800848	NM_007325.5(GRIA3):c.2189G>C (p.Gly730Ala)	GRIA3 (G730A)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 94	GUncertain significance
Select item 638312	NM_007325.5(GRIA3):c.813G>C (p.Gln271His)	GRIA3 (Q271H)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 94 +1 more	GUncertain significance
Select item 589164	NM_007325.5(GRIA3):c.1125T>C (p.Tyr375=)	GRIA3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 561019	NM_007325.5(GRIA3):c.2408G>A (p.Gly803Glu)	GRIA3 (G803E)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability 94 +1 more	GConflicting classifications of pathogenicity
Select item 561018	NM_007325.5(GRIA3):c.2116A>C (p.Met706Leu)	GRIA3 (M706L)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 94	GUncertain significance
Select item 560997	NM_007325.5(GRIA3):c.2447C>T (p.Thr816Ile)	GRIA3 (T816I)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 94	GUncertain significance
Select item 431114	NM_007325.5(GRIA3):c.1964T>C (p.Phe655Ser)	GRIA3 (F655S)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 94	GPathogenic
Select item 426660	NM_007325.5(GRIA3):c.527C>T (p.Ala176Val)	GRIA3 (A176V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 383739	NM_007325.5(GRIA3):c.1957G>A (p.Ala653Thr)	GRIA3 (A653T)	Single nucleotide variant (missense variant)	Disrupted sleep-wake cycle with developmental delay and learning difficulty +2 more	GPathogenic/Likely pathogenic
Select item 224120	NM_007325.5(GRIA3):c.580G>A (p.Gly194Arg)	GRIA3 (G194R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 224091	NM_007325.5(GRIA3):c.466T>C (p.Tyr156His)	GRIA3 (Y156H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 218561	NM_007325.5(GRIA3):c.268+16757dup	GRIA3 (G128fs)	Duplication (frameshift variant +1 more)	not specified	GBenign
Select item 198752	NM_007325.5(GRIA3):c.1181G>A (p.Arg394Gln)	GRIA3 (R394Q)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 197168	NM_007325.5(GRIA3):c.646C>T (p.Arg216Ter)	GRIA3 (R216*)	Single nucleotide variant (nonsense)	Syndromic X-linked intellectual disability 94 +1 more	GPathogenic/Likely pathogenic
Select item 167157	NM_000828.4(GRIA3):c.-2G=	GRIA3	Duplication (5 prime UTR variant)	not specified +3 more	GBenign
Select item 129167	NM_007325.5(GRIA3):c.1200T>C (p.Asn400=)	GRIA3	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability 94 +2 more	GBenign
Select item 127195	NM_007325.5(GRIA3):c.1888G>C (p.Gly630Arg)	GRIA3 (G630R)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 94	GPathogenic
Select item 93435	NM_007325.5(GRIA3):c.1701C>A (p.Ser567Arg)	GRIA3 (S567R)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 94 +1 more	GUncertain significance
Select item 10359	NC_000023.11:g.(?_123184278)_(123490915_?)del	GRIA3, LOC113875007 +1 more	Deletion	Syndromic X-linked intellectual disability 94	GPathogenic
Select item 10358	NM_007325.5(GRIA3):c.2117T>C (p.Met706Thr)	GRIA3 (M706T)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 94	GPathogenic
Select item 10357	NM_007325.5(GRIA3):c.1891C>A (p.Arg631Ser)	GRIA3 (R631S)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability 94	GPathogenic
Select item 10356	NM_007325.5(GRIA3):c.2497G>A (p.Gly833Arg)	GRIA3 (G833R)	Single nucleotide variant (missense variant)	not provided	GPathogenic

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Items: 63