ClinVar for Gene (Select 101929208) - ClinVar

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Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3282752	NM_014619.5(GRIK4):c.1699C>T (p.Arg567Trp)	GRIK4, LOC101929208 (R567W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102437	NM_014619.5(GRIK4):c.1823G>T (p.Gly608Val)	GRIK4, LOC101929208 (G608V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642467	NM_014619.5(GRIK4):c.1714G>A (p.Glu572Lys)	GRIK4, LOC101929208 (E572K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2343959	NM_014619.5(GRIK4):c.1865G>A (p.Ser622Asn)	GRIK4, LOC101929208 (S622N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237404	NM_014619.5(GRIK4):c.1654C>T (p.Leu552Phe)	GRIK4, LOC101929208 (L552F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1239912	NM_014619.5(GRIK4):c.1821A>G (p.Gln607=)	GRIK4, LOC101929208	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 545140	Single allele	ABCG4, ACAD8 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 224137	NM_014619.5(GRIK4):c.1856G>A (p.Arg619His)	GRIK4, LOC101929208 (R619H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 154156	GRCh38/hg38 11q23.3(chr11:120453168-121182251)x3	ARHGEF12, GRIK4 +24 more	Copy number gain	See cases	GUncertain significance
Select item 151354	GRCh38/hg38 11q23.3-24.2(chr11:120080142-125829106)x1	ACRV1, ARHGEF12 +255 more	Copy number loss	See cases	GPathogenic
Select item 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	LOC130007002, LOC130007003 +499 more	Copy number gain	See cases	GPathogenic
Select item 150032	GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1	LOC130006995, LOC130006996 +551 more	Copy number loss	See cases	GPathogenic
Select item 149328	GRCh38/hg38 11q23.3-25(chr11:120515759-135075271)x1	ACAD8, ACRV1 +497 more	Copy number loss	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	ABCG4, ACAD8 +769 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	BCL9L, BLID +774 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	LOC130006864, LOC130006865 +763 more	Copy number gain	See cases	GPathogenic
Select item 145002	GRCh38/hg38 11q23.3-24.2(chr11:120426093-124771213)x1	ARHGEF12, BLID +184 more	Copy number loss	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 59777	GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3	OR8G5, PANX3 +519 more	Copy number gain	See cases	GPathogenic
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 58924	GRCh38/hg38 11q23.3-25(chr11:120507265-134576266)x1	ACAD8, ACRV1 +488 more	Copy number loss	See cases	GPathogenic
Select item 57503	GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3	ABCG4, ACAD8 +635 more	Copy number gain	See cases	GPathogenic
Select item 57238	GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1	LOC121832824, LOC124625855 +549 more	Copy number loss	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	LOC128772366, LOC128772367 +764 more	Copy number gain	See cases	GPathogenic

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Items: 25