GRM6[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995188, LOC129995189 +863 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	LOC129995377, LOC129995378 +676 more	Copy number gain	See cases	GPathogenic
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	ADAMTS2, ARL10 +622 more	Copy number gain	See cases	GPathogenic
Select item 153687	GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1	ADAMTS2, ARL10 +386 more	Copy number loss	See cases	GPathogenic
Select item 58123	GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3	ADAMTS2, ARL10 +292 more	Copy number gain	See cases	GPathogenic
Select item 154581	GRCh38/hg38 5q35.2-35.3(chr5:176700128-181269805)x1	LOC129995370, LOC129995371 +325 more	Copy number loss	See cases	GPathogenic
Select item 154193	GRCh38/hg38 5q35.3(chr5:178235909-181292788)x3	ADAMTS2, BTNL3 +207 more	Copy number gain	See cases	GLikely pathogenic
Select item 57495	GRCh38/hg38 5q35.3(chr5:178529878-181269805)x3	ADAMTS2, BTNL3 +203 more	Copy number gain	See cases	GUncertain significance
Select item 1706654	NM_000843.4(GRM6):c.*171A>G	GRM6, ZNF454 +1 more	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1707172	NM_000843.4(GRM6):c.*128G>A	GRM6, LOC100130798 +1 more	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1706847	NM_000843.4(GRM6):c.*114C>G	LOC100130798, GRM6 +1 more	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1097176	NM_000843.4(GRM6):c.2628C>T (p.His876=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 866961	NM_000843.4(GRM6):c.2624C>A (p.Ala875Asp)	GRM6, ZNF454 (A875D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1132008	NM_000843.4(GRM6):c.2616T>C (p.Asp872=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 854338	NM_000843.4(GRM6):c.2611G>A (p.Glu871Lys)	GRM6, ZNF454 (E871K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 193608	NM_000843.4(GRM6):c.2610C>T (p.Gly870=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1393868	NM_000843.4(GRM6):c.2609G>A (p.Gly870Asp)	GRM6, ZNF454 (G870D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1284878	NM_000843.4(GRM6):c.2607G>A (p.Lys869=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1124388	NM_000843.4(GRM6):c.2601A>G (p.Pro867=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1355245	NM_000843.4(GRM6):c.2590G>A (p.Val864Met)	GRM6, ZNF454 (V864M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 999194	NM_000843.4(GRM6):c.2589G>A (p.Thr863=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 788529	NM_000843.4(GRM6):c.2588C>T (p.Thr863Met)	GRM6, ZNF454 (T863M)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1133039	NM_000843.4(GRM6):c.2586C>T (p.Ser862=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1370705	NM_000843.4(GRM6):c.2581A>C (p.Thr861Pro)	ZNF454, GRM6 (T861P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2905224	NM_000843.4(GRM6):c.2580C>T (p.Ala860=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 849482	NM_000843.4(GRM6):c.2578G>T (p.Ala860Ser)	GRM6, ZNF454 (A860S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988605	NM_000843.4(GRM6):c.2574C>T (p.Leu858=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 968463	NM_000843.4(GRM6):c.2567G>A (p.Arg856Gln)	GRM6, ZNF454 +1 more (R856Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 966276	NM_000843.4(GRM6):c.2566C>T (p.Arg856Trp)	GRM6, LOC100130798 +1 more (R856W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1423736	NM_000843.4(GRM6):c.2561G>A (p.Arg854Gln)	GRM6, ZNF454 (R854Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1717563	NM_000843.4(GRM6):c.2549A>C (p.Asn850Thr)	GRM6, ZNF454 (N850T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1389504	NM_000843.4(GRM6):c.2530C>A (p.Leu844Ile)	GRM6, ZNF454 (L844I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 863565	NM_000843.4(GRM6):c.2530C>G (p.Leu844Val)	GRM6, ZNF454 (L844V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1389505	NM_000843.4(GRM6):c.2527A>G (p.Ile843Val)	GRM6, ZNF454 (I843V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1489966	NM_000843.4(GRM6):c.2525T>C (p.Val842Ala)	GRM6, ZNF454 (V842A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 846739	NM_000843.4(GRM6):c.2524G>A (p.Val842Ile)	GRM6, ZNF454 (V842I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1545247	NM_000843.4(GRM6):c.2523C>T (p.Tyr841=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 777400	NM_000843.4(GRM6):c.2509G>A (p.Val837Ile)	GRM6, ZNF454 (V837I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1134633	NM_000843.4(GRM6):c.2508C>T (p.Tyr836=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1375389	NM_000843.4(GRM6):c.2506T>G (p.Tyr836Asp)	GRM6, ZNF454 (Y836D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1524837	NM_000843.4(GRM6):c.2502G>A (p.Met834Ile)	GRM6, ZNF454 (M834I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1510961	NM_000843.4(GRM6):c.2502G>C (p.Met834Ile)	GRM6, ZNF454 (M834I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1367174	NM_000843.4(GRM6):c.2497G>T (p.Gly833Cys)	GRM6, ZNF454 (G833C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1590958	NM_000843.4(GRM6):c.2496C>T (p.Leu832=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1900257	NM_000843.4(GRM6):c.2489T>C (p.Val830Ala)	GRM6, ZNF454 (V830A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1668288	NM_000843.4(GRM6):c.2487G>A (p.Ser829=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 959838	NM_000843.4(GRM6):c.2486C>T (p.Ser829Leu)	GRM6, ZNF454 (S829L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 969125	NM_000843.4(GRM6):c.2485T>G (p.Ser829Ala)	GRM6, ZNF454 (S829A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1019701	NM_000843.4(GRM6):c.2464G>A (p.Val822Met)	GRM6, ZNF454 (V822M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1917378	NM_000843.4(GRM6):c.2463C>T (p.Thr821=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1079119	NM_000843.4(GRM6):c.2460A>C (p.Leu820=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1166033	NM_000843.4(GRM6):c.2457G>A (p.Thr819=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1036310	NM_000843.4(GRM6):c.2456C>T (p.Thr819Met)	GRM6, ZNF454 (T819M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 967633	NM_000843.4(GRM6):c.2452A>T (p.Thr818Ser)	GRM6, ZNF454 (T818S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1665447	NM_000843.4(GRM6):c.2442C>T (p.Tyr814=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1126395	NM_000843.4(GRM6):c.2437-5C>T	GRM6, ZNF454	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 99648	NM_000843.4(GRM6):c.2437-6G>A	GRM6, ZNF454	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1140764	NM_000843.4(GRM6):c.2437-9A>G	GRM6, ZNF454	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2131833	NM_000843.4(GRM6):c.2437-10C>G	GRM6, ZNF454	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2019857	NM_000843.4(GRM6):c.2437-16C>T	GRM6, ZNF454	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1669067	NM_000843.4(GRM6):c.2437-18C>T	GRM6, ZNF454	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2881181	NM_000843.4(GRM6):c.2437-19C>T	GRM6, ZNF454	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269495	NM_000843.4(GRM6):c.2436+226C>T	GRM6, ZNF454	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293683	NM_000843.4(GRM6):c.2436+206dup	GRM6, ZNF454	Duplication (intron variant)	not provided	GBenign
Select item 1254970	NM_000843.4(GRM6):c.2436+206_2436+207dup	GRM6, ZNF454	Duplication (intron variant)	not provided	GBenign
Select item 1280992	NM_000843.4(GRM6):c.2436+211_2436+217del	GRM6, ZNF454	Deletion (intron variant)	not provided	GBenign
Select item 1252173	NM_000843.4(GRM6):c.2436+217del	GRM6, ZNF454	Deletion (intron variant)	not provided	GBenign
Select item 1707038	NM_000843.4(GRM6):c.2436+186C>T	GRM6, LOC100130798 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232316	NM_000843.4(GRM6):c.2436+84G>A	GRM6, LOC132089230 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 99647	NM_000843.4(GRM6):c.2436+55G>A	LOC132089230, ZNF454 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 99646	NM_000843.4(GRM6):c.2436+46A>C	ZNF454, GRM6 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1633424	NM_000843.4(GRM6):c.2436+17G>C	GRM6, LOC132089230 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1619797	NM_000843.4(GRM6):c.2436+9G>T	GRM6, ZNF454	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1382087	NM_000843.4(GRM6):c.2425T>A (p.Ser809Thr)	GRM6, ZNF454 (S809T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1431639	NM_000843.4(GRM6):c.2422C>A (p.Gln808Lys)	GRM6, ZNF454 (Q808K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 99645	NM_000843.4(GRM6):c.2420C>T (p.Ala807Val)	GRM6, ZNF454 (A807V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1492307	NM_000843.4(GRM6):c.2419G>T (p.Ala807Ser)	GRM6, ZNF454 (A807S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 999372	NM_000843.4(GRM6):c.2414G>A (p.Gly805Asp)	GRM6, ZNF454 (G805D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1492261	NM_000843.4(GRM6):c.2402C>T (p.Pro801Leu)	GRM6, ZNF454 (P801L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 252500	NM_000843.4(GRM6):c.2398G>A (p.Val800Met)	ZNF454, GRM6 (V800M)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 99644	NM_000843.4(GRM6):c.2397C>T (p.Phe799=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1124061	NM_000843.4(GRM6):c.2370C>T (p.Tyr790=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2097887	NM_000843.4(GRM6):c.2368T>C (p.Tyr790His)	GRM6, ZNF454 (Y790H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1522205	NM_000843.4(GRM6):c.2356G>A (p.Gly786Ser)	GRM6, ZNF454 (G786S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1092286	NM_000843.4(GRM6):c.2355C>T (p.Ile785=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1139190	NM_000843.4(GRM6):c.2352C>T (p.Pro784=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 5841	NM_000843.4(GRM6):c.2341G>A (p.Glu781Lys)	GRM6, ZNF454 (E781K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1082514	NM_000843.4(GRM6):c.2340C>T (p.Asn780=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	GRM6-related condition +1 more	GLikely benign
Select item 1062053	NM_000843.4(GRM6):c.2339A>G (p.Asn780Ser)	GRM6, ZNF454 (N780S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1443459	NM_000843.4(GRM6):c.2329G>A (p.Glu777Lys)	GRM6, ZNF454 (E777K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2144849	NM_000843.4(GRM6):c.2328C>T (p.Pro776=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1061109	NM_000843.4(GRM6):c.2323G>A (p.Val775Met)	GRM6, ZNF454 (V775M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1473123	NM_000843.4(GRM6):c.2322C>T (p.Gly774=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1010829	NM_000843.4(GRM6):c.2318G>A (p.Arg773His)	GRM6, LOC100130798 +1 more (R773H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1609287	NM_000843.4(GRM6):c.2316C>T (p.Ala772=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1006565	NM_000843.4(GRM6):c.2311A>C (p.Lys771Gln)	GRM6, ZNF454 (K771Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1411275	NM_000843.4(GRM6):c.2305G>A (p.Ala769Thr)	GRM6, ZNF454 (A769T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2163881	NM_000843.4(GRM6):c.2304C>T (p.Tyr768=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1668668	NM_000843.4(GRM6):c.2298A>G (p.Thr766=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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