ClinVar for Gene (Select 2912) - ClinVar

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Links from Gene

Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3282865	NM_000839.5(GRM2):c.923A>T (p.Glu308Val)	GRM2 (E308V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3282864	NM_000839.5(GRM2):c.2141G>A (p.Arg714Gln)	GRM2 (R714Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282863	NM_000839.5(GRM2):c.811C>T (p.Arg271Cys)	GRM2 (R271C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3282862	NM_000839.5(GRM2):c.2398C>T (p.Leu800Phe)	GRM2 (L403F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282861	NM_000839.5(GRM2):c.2158C>T (p.Arg720Cys)	GRM2 (R323C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282860	NM_000839.5(GRM2):c.49G>A (p.Val17Met)	GRM2 (V17M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3282859	NM_000839.5(GRM2):c.1073G>T (p.Arg358Leu)	GRM2 (R358L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102648	NM_000839.5(GRM2):c.736A>G (p.Ser246Gly)	GRM2 (S246G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3102646	NM_000839.5(GRM2):c.430T>G (p.Tyr144Asp)	GRM2 (Y144D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3102645	NM_000839.5(GRM2):c.2597A>G (p.Asp866Gly)	GRM2 (D248G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102644	NM_000839.5(GRM2):c.2485C>T (p.Arg829Trp)	GRM2 (R829W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102643	NM_000839.5(GRM2):c.2441T>C (p.Leu814Pro)	GRM2 (L417P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102642	NM_000839.5(GRM2):c.2228C>T (p.Thr743Met)	GRM2 (T125M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102641	NM_000839.5(GRM2):c.2080G>A (p.Val694Met)	GRM2 (V694M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102640	NM_000839.5(GRM2):c.1994G>A (p.Arg665Gln)	GRM2 (R47Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102639	NM_000839.5(GRM2):c.1907G>A (p.Arg636His)	GRM2 (R258H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102638	NM_000839.5(GRM2):c.1400G>A (p.Arg467His)	GRM2 (R467H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102637	NM_000839.5(GRM2):c.1289C>T (p.Ala430Val)	GRM2 (A52V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102636	NM_000839.5(GRM2):c.1064G>A (p.Cys355Tyr)	GRM2 (C355Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062680	GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1	ABHD14A, ABHD14B +86 more	Copy number loss	not specified	GPathogenic
Select item 2603733	NM_000839.5(GRM2):c.1762G>A (p.Val588Ile)	GRM2 (V191I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600113	NM_000839.5(GRM2):c.599G>A (p.Arg200His)	GRM2 (R200H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2547495	NM_000839.5(GRM2):c.1354C>T (p.Arg452Cys)	GRM2 (R452C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542334	NM_000839.5(GRM2):c.1904G>A (p.Arg635Gln)	GRM2 (R17Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478470	NM_000839.5(GRM2):c.589G>C (p.Glu197Gln)	GRM2 (E197Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2477515	NM_000839.5(GRM2):c.560C>T (p.Pro187Leu)	GRM2 (P187L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2470018	NM_000839.5(GRM2):c.2432C>T (p.Ala811Val)	GRM2 (A193V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398421	NM_000839.5(GRM2):c.1886C>T (p.Thr629Met)	GRM2 (T11M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385591	NM_000839.5(GRM2):c.1346G>A (p.Gly449Asp)	GRM2 (G71D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381402	NM_000839.5(GRM2):c.133G>A (p.Gly45Ser)	GRM2 (G45S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2378974	NM_000839.5(GRM2):c.1066A>G (p.Ser356Gly)	GRM2 (S356G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372515	NM_000839.5(GRM2):c.97G>A (p.Val33Met)	GRM2 (V33M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2363051	NM_000839.5(GRM2):c.1399C>T (p.Arg467Cys)	GRM2 (R467C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361546	NM_000839.5(GRM2):c.1469C>T (p.Pro490Leu)	GRM2 (P93L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359440	NM_000839.5(GRM2):c.2363G>A (p.Arg788Gln)	GRM2 (R170Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351851	NM_000839.5(GRM2):c.1037G>A (p.Arg346His)	GRM2 (R346H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346775	NM_000839.5(GRM2):c.1394G>A (p.Arg465His)	GRM2 (R465H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345550	NM_000839.5(GRM2):c.1087G>A (p.Ala363Thr)	GRM2 (A363T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340486	NM_000839.5(GRM2):c.975T>A (p.Ser325Arg)	GRM2 (S325R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2335926	NM_000839.5(GRM2):c.603C>G (p.Phe201Leu)	GRM2 (F201L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2325283	NM_000839.5(GRM2):c.2460G>T (p.Gln820His)	GRM2 (Q202H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322417	NM_000839.5(GRM2):c.374C>A (p.Ser125Tyr)	GRM2 (S125Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2296043	NM_000839.5(GRM2):c.2491C>A (p.Pro831Thr)	GRM2 (P213T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273811	NM_000839.5(GRM2):c.2138G>A (p.Arg713Gln)	GRM2 (R713Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261539	NM_000839.5(GRM2):c.1709G>A (p.Gly570Glu)	GRM2 (G192E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258829	NM_000839.5(GRM2):c.1495C>T (p.Arg499Cys)	GRM2 (R121C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257457	NM_000839.5(GRM2):c.842C>T (p.Ala281Val)	GRM2 (A281V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2237807	NM_000839.5(GRM2):c.130G>A (p.Gly44Ser)	GRM2 (G44S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2227618	NM_000839.5(GRM2):c.2171G>A (p.Arg724His)	GRM2 (R327H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212805	NM_000839.5(GRM2):c.1592G>A (p.Arg531Gln)	GRM2 (R134Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212662	NM_000839.5(GRM2):c.1612G>A (p.Ala538Thr)	GRM2 (A538T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 814444	GRCh37/hg19 3p21.2-21.1(chr3:51247306-53069942)x3	ABHD14A, ABHD14B +48 more	Copy number gain	not provided	GUncertain significance
Select item 786879	NM_000839.5(GRM2):c.2595G>A (p.Val865=)	GRM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 780877	NM_000839.5(GRM2):c.2472C>T (p.Asn824=)	GRM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 759278	NM_000839.5(GRM2):c.888T>C (p.Gly296=)	GRM2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 754238	NM_000839.5(GRM2):c.420T>C (p.Ile140=)	GRM2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 747331	NM_000839.5(GRM2):c.369C>T (p.Asp123=)	GRM2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 746062	NM_000839.5(GRM2):c.2001T>C (p.Gly667=)	GRM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 737829	NM_000839.5(GRM2):c.743C>T (p.Ala248Val)	GRM2 (A248V)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 723665	NM_000839.5(GRM2):c.1316A>G (p.Asn439Ser)	GRM2 (N439S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 723255	NM_000839.5(GRM2):c.2074C>T (p.Leu692Phe)	GRM2 (L314F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 712700	NM_000839.5(GRM2):c.810C>T (p.Thr270=)	GRM2	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 155564	GRCh38/hg38 3p21.2-14.3(chr3:51394434-55064449)x1	ABHD14A, ABHD14A-ACY1 +197 more	Copy number loss	See cases	GLikely pathogenic
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 67