Related gene-specific medical variations for Gene (Select 2917) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2432310	NM_000844.4(GRM7):c.760G>C (p.Val254Leu)	GRM7 (V254L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities	GUncertain significance
Select item 1340517	GRCh37/hg19 3p26.1(chr3:6200935-6981500)x3	GRM7	Copy number gain	not provided	GPathogenic
Select item 1340242	GRCh37/hg19 3p26.1(chr3:7420671-7533319)x1	GRM7	Copy number loss	not provided	GUncertain significance
Select item 980638	GRCh37/hg19 3p26.1(chr3:7486112-8142467)x3	GRM7	Copy number gain	not provided	GUncertain significance
Select item 980636	GRCh37/hg19 3p26.1(chr3:6124359-7091641)x3	GRM7	Copy number gain	not provided	GUncertain significance
Select item 980634	GRCh37/hg19 3p26.1(chr3:7431831-7592923)x1	GRM7	Copy number loss	not provided	GUncertain significance
Select item 978175	NM_000844.4(GRM7):c.1514A>G (p.Asn505Ser)	GRM7 (N505S)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 689283	GRCh37/hg19 3p26.1(chr3:7204773-7361342)x1	GRM7	Copy number loss	not provided	GUncertain significance
Select item 688459	GRCh37/hg19 3p26.1(chr3:6206633-6981500)x3	GRM7	Copy number gain	not provided	GUncertain significance
Select item 687473	GRCh37/hg19 3p26.1(chr3:6120068-7991449)x1	GRM7	Copy number loss	not provided	GUncertain significance
Select item 687470	GRCh37/hg19 3p26.1(chr3:6120068-7991449)x1	GRM7	Copy number loss	not provided	GUncertain significance
Select item 686537	GRCh37/hg19 3p26.1(chr3:5492215-7221271)x3	GRM7	Copy number gain	not provided	GUncertain significance
Select item 685012	GRCh37/hg19 3p26.1(chr3:7756741-8344627)x1	GRM7	Copy number loss	not provided	GUncertain significance
Select item 562747	GRCh37/hg19 3p26.1(chr3:7461705-8113000)x4	GRM7	Copy number gain	not provided	GUncertain significance
Select item 562746	GRCh37/hg19 3p26.1(chr3:7046444-7337459)x3	GRM7	Copy number gain	not provided	GUncertain significance
Select item 562745	GRCh37/hg19 3p26.1(chr3:6375862-7357086)x3	GRM7	Copy number gain	not provided	GUncertain significance
Select item 443798	GRCh37/hg19 3p26.1(chr3:6193811-6981354)x3	GRM7	Copy number gain	See cases	GUncertain significance
Select item 442603	GRCh37/hg19 3p26.1(chr3:7612687-8156930)x3	GRM7	Copy number gain	See cases	GUncertain significance
Select item 442392	GRCh37/hg19 3p26.1(chr3:7131465-7399532)x3	GRM7	Copy number gain	See cases	GUncertain significance
Select item 441544	GRCh37/hg19 3p26.1(chr3:6423447-8225760)x1	GRM7	Copy number loss	See cases	GUncertain significance
Select item 395187	GRCh37/hg19 3p26.1(chr3:7747839-8288623)x1	GRM7	Copy number loss	See cases	GLikely benign
Select item 394532	GRCh37/hg19 3p26.1(chr3:7747839-8325115)x3	GRM7	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 22