"GRIA1-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 218567	NM_000827.4(GRIA1):c.82+1259dup	GRIA1 (L10fs +1 more)	Duplication (frameshift variant +1 more)	GRIA1-related condition +1 more	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 condition	GLikely benign
Select item 3039828	NM_000827.4(GRIA1):c.240A>G (p.Lys80=)	GRIA1	Single nucleotide variant (synonymous variant +3 more)	GRIA1-related condition	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 condition	GUncertain significance
Select item 3046682	NM_000827.4(GRIA1):c.468C>T (p.Ser156=)	GRIA1	Single nucleotide variant (synonymous variant +1 more)	GRIA1-related condition	GLikely benign
Select item 3059187	NM_000827.4(GRIA1):c.531T>C (p.Ile177=)	GRIA1	Single nucleotide variant (synonymous variant +1 more)	GRIA1-related condition	GBenign
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 +1 more	GBenign
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 condition	GUncertain significance
Select item 3037836	NM_000827.4(GRIA1):c.848G>A (p.Trp283Ter)	GRIA1 (W188* +5 more)	Single nucleotide variant (nonsense +1 more)	GRIA1-related condition	GLikely pathogenic
Select item 3035120	NM_000827.4(GRIA1):c.862-6C>T	GRIA1	Single nucleotide variant (intron variant)	GRIA1-related condition	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 condition	GUncertain significance
Select item 3038646	NM_000827.4(GRIA1):c.1122C>T (p.Asp374=)	GRIA1	Single nucleotide variant (synonymous variant +1 more)	GRIA1-related condition	GLikely benign
Select item 709216	NM_000827.4(GRIA1):c.1185C>T (p.Ala395=)	GRIA1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 777399	NM_000827.4(GRIA1):c.1453-4T>C	GRIA1	Single nucleotide variant (intron variant)	GRIA1-related condition +2 more	GBenign/Likely benign
Select item 3057673	NM_000827.4(GRIA1):c.1824-6C>G	GRIA1	Single nucleotide variant (intron variant)	GRIA1-related condition	GLikely benign
Select item 2630636	NM_000827.4(GRIA1):c.1824-1G>A	GRIA1	Single nucleotide variant (splice acceptor variant)	GRIA1-related condition	GUncertain significance
Select item 732407	NM_000827.4(GRIA1):c.2385+828A>G	GRIA1	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 3037542	NM_000827.4(GRIA1):c.2586C>T (p.Asn862=)	GRIA1	Single nucleotide variant (synonymous variant +1 more)	GRIA1-related condition	GLikely benign
Select item 746504	NM_000827.4(GRIA1):c.2607C>T (p.Ser869=)	GRIA1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 3053012	NM_000827.4(GRIA1):c.2682C>T (p.Ser894=)	GRIA1	Single nucleotide variant (synonymous variant +1 more)	GRIA1-related condition	GLikely benign

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Items: 20