GRM3[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 254280	Single allele	CACNA2D1, CACNA2D1-AS1 +79 more	Deletion	Seizure +1 more	GLikely pathogenic
Select item 155204	GRCh38/hg38 7q21.11-21.3(chr7:84002634-95228883)x1	LOC129998788, LOC129998789 +227 more	Copy number loss	See cases	GPathogenic
Select item 151091	GRCh38/hg38 7q21.11-21.12(chr7:85213685-87058277)x1	ELAPOR2, GRM3 +12 more	Copy number loss	See cases	GUncertain significance
Select item 59621	GRCh38/hg38 7q21.11-21.12(chr7:86669909-87492659)x3	ABCB4, CROT +30 more	Copy number gain	See cases	GUncertain significance
Select item 768176	NM_000840.3(GRM3):c.132G>A (p.Leu44=)	GRM3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2616923	NM_000840.3(GRM3):c.189C>A (p.Asp63Glu)	GRM3 (D63E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102653	NM_000840.3(GRM3):c.392C>T (p.Ser131Phe)	GRM3 (S131F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102654	NM_000840.3(GRM3):c.612C>G (p.Ile204Met)	GRM3, GRM3-AS1 (I204M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468929	NM_000840.3(GRM3):c.616C>T (p.Arg206Cys)	GRM3, GRM3-AS1 (R206C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282870	NM_000840.3(GRM3):c.650C>A (p.Ala217Asp)	GRM3, GRM3-AS1 (A217D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681307	NM_000840.3(GRM3):c.699A>C (p.Glu233Asp)	GRM3, GRM3-AS1 (E233D)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 781037	NM_000840.3(GRM3):c.738G>A (p.Lys246=)	GRM3, GRM3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3102655	NM_000840.3(GRM3):c.791T>C (p.Leu264Ser)	GRM3, GRM3-AS1 (L264S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102656	NM_000840.3(GRM3):c.799C>T (p.Pro267Ser)	GRM3, GRM3-AS1 (P267S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 737837	NM_000840.3(GRM3):c.816G>C (p.Val272=)	GRM3-AS1, GRM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3102657	NM_000840.3(GRM3):c.887C>G (p.Thr296Ser)	GRM3, GRM3-AS1 (T296S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532701	NM_000840.3(GRM3):c.1153G>A (p.Glu385Lys)	GRM3, GRM3-AS1 (E385K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102649	NM_000840.3(GRM3):c.1261G>A (p.Ala421Thr)	GRM3, GRM3-AS1 (A421T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657657	NM_000840.3(GRM3):c.1424G>A (p.Gly475Asp)	GRM3 (G475D)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2212176	NM_000840.3(GRM3):c.1466C>A (p.Thr489Asn)	GRM3 (T489N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 749336	NM_000840.3(GRM3):c.1473G>A (p.Ser491=)	GRM3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3102650	NM_000840.3(GRM3):c.1484A>C (p.Asn495Thr)	GRM3 (N495T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296417	NM_000840.3(GRM3):c.1499C>T (p.Ser500Phe)	GRM3 (S500F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282869	NM_000840.3(GRM3):c.1766T>C (p.Met589Thr)	GRM3 (M589T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282868	NM_000840.3(GRM3):c.1840C>T (p.Leu614Phe)	GRM3 (L614F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 750890	NM_000840.3(GRM3):c.1878C>T (p.Tyr626=)	GRM3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2231605	NM_000840.3(GRM3):c.1888T>A (p.Phe630Ile)	GRM3 (F630I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 747080	NM_000840.3(GRM3):c.1920C>T (p.Ile640=)	GRM3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2403877	NM_000840.3(GRM3):c.2011G>A (p.Asp671Asn)	GRM3 (D671N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 709868	NM_000840.3(GRM3):c.2028C>T (p.Gly676=)	GRM3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3102651	NM_000840.3(GRM3):c.2060C>A (p.Ser687Tyr)	GRM3 (S687Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282871	NM_000840.3(GRM3):c.2065G>T (p.Val689Phe)	GRM3 (V689F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293871	NM_000840.3(GRM3):c.2077C>A (p.Leu693Met)	GRM3 (L693M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541701	NM_000840.3(GRM3):c.2107G>A (p.Val703Met)	GRM3 (V703M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 708719	NM_000840.3(GRM3):c.2229C>T (p.Tyr743=)	GRM3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 770939	NM_000840.3(GRM3):c.2400G>A (p.Thr800=)	GRM3 (D445N)	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3102652	NM_000840.3(GRM3):c.2561C>G (p.Ser854Cys)	GRM3 (S854C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493363	NM_000840.3(GRM3):c.2564A>G (p.Gln855Arg)	GRM3 (Q855R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3024641	GRCh37/hg19 7q21.12(chr7:86479686-86605205)x3	ELAPOR2, GRM3	Copy number gain	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527369	GRCh37/hg19 7q21.11-21.3(chr7:77821356-93340137)	ABCB1, ABCB4 +50 more	Copy number gain	not specified	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 563413	GRCh37/hg19 7q21.11-21.12(chr7:83506642-86647926)x1	ELAPOR2, SEMA3D +2 more	Copy number loss	not provided	GUncertain significance
Select item 560111	Single allele	CACNA2D1, ERVW-1 +91 more	Deletion	not provided	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 50