ClinVar for Gene (Select 2915) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3102685	NM_001143831.3(GRM5):c.812C>T (p.Ala271Val)	GRM5 (A271V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102684	NM_001143831.3(GRM5):c.758G>A (p.Gly253Glu)	GRM5 (G253E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102683	NM_001143831.3(GRM5):c.3455C>T (p.Ala1152Val)	GRM5, GRM5-AS1 (A1120V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3102682	NM_001143831.3(GRM5):c.3422G>A (p.Arg1141Gln)	GRM5, GRM5-AS1 (R1109Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3102679	NM_001143831.3(GRM5):c.2771G>C (p.Ser924Thr)	GRM5, GRM5-AS1 (S892T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102678	NM_001143831.3(GRM5):c.2695A>G (p.Met899Val)	GRM5 (M899V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102677	NM_001143831.3(GRM5):c.2455G>T (p.Val819Leu)	GRM5 (V819L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102675	NM_001143831.3(GRM5):c.2125G>C (p.Val709Leu)	GRM5 (V709L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102674	NM_001143831.3(GRM5):c.1450G>A (p.Val484Ile)	GRM5 (V484I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3069153	NM_001143831.3(GRM5):c.571G>T (p.Val191Phe)	GRM5 (V191F)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 3069152	NM_001143831.3(GRM5):c.440T>C (p.Ile147Thr)	GRM5 (I147T)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2721314	NM_001143831.3(GRM5):c.2919C>T (p.Gly973=)	GRM5, GRM5-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2664564	NM_001143831.3(GRM5):c.1361T>C (p.Ile454Thr)	GRM5 (I454T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2642259	NM_001143831.3(GRM5):c.2934C>G (p.Gly978=)	GRM5, GRM5-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642258	NM_001143831.3(GRM5):c.3123G>C (p.Ser1041=)	GRM5, GRM5-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621807	NM_001143831.3(GRM5):c.728C>T (p.Ala243Val)	GRM5 (A243V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614926	NM_001143831.3(GRM5):c.2576C>A (p.Ser859Tyr)	GRM5 (S859Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546715	NM_001143831.3(GRM5):c.1106G>C (p.Gly369Ala)	GRM5 (G369A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530710	NM_001143831.3(GRM5):c.2938G>A (p.Ala980Thr)	GRM5, GRM5-AS1 +1 more (A980T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530494	NM_001143831.3(GRM5):c.3109G>A (p.Asp1037Asn)	GRM5, GRM5-AS1 (D1005N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526359	NM_001143831.3(GRM5):c.3416C>T (p.Ala1139Val)	GRM5, GRM5-AS1 (A1107V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2508537	NM_001143831.3(GRM5):c.1124G>A (p.Ser375Asn)	GRM5 (S375N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495695	NM_001143831.3(GRM5):c.868A>G (p.Met290Val)	GRM5 (M290V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489429	NM_001143831.3(GRM5):c.2155A>G (p.Ile719Val)	GRM5 (I719V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424249	NC_000011.9:g.(?_88027174)_(89018142_?)dup	CTSC, GRM5 +1 more	Duplication	Periodontitis, aggressive 1 +2 more	GUncertain significance
Select item 2402893	NM_001143831.3(GRM5):c.3253C>T (p.Pro1085Ser)	GRM5, GRM5-AS1 (P1085S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400465	NM_001143831.3(GRM5):c.3064A>G (p.Ile1022Val)	GRM5, GRM5-AS1 (I1022V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388279	NM_001143831.3(GRM5):c.3364G>A (p.Glu1122Lys)	GRM5, GRM5-AS1 (E1090K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2381595	NM_001143831.3(GRM5):c.1097G>A (p.Arg366Gln)	GRM5 (R366Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376702	NM_001143831.3(GRM5):c.3319A>G (p.Thr1107Ala)	GRM5, GRM5-AS1 (T1075A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2356651	NM_001143831.3(GRM5):c.3406G>T (p.Ala1136Ser)	GRM5, GRM5-AS1 (A1104S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2344155	NM_001143831.3(GRM5):c.3418G>A (p.Ala1140Thr)	GRM5, GRM5-AS1 (A1140T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2340005	NM_001143831.3(GRM5):c.431T>C (p.Val144Ala)	GRM5 (V144A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332940	NM_001143831.3(GRM5):c.1082A>G (p.His361Arg)	GRM5 (H361R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323210	NM_001143831.3(GRM5):c.79G>A (p.Val27Met)	GRM5 (V27M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316912	NM_001143831.3(GRM5):c.2893G>T (p.Ala965Ser)	GRM5, GRM5-AS1 +1 more (A965S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305154	NM_001143831.3(GRM5):c.2899G>A (p.Ala967Thr)	GRM5, GRM5-AS1 +1 more (A935T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298901	NM_001143831.3(GRM5):c.611A>G (p.Asp204Gly)	GRM5 (D204G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289676	NM_001143831.3(GRM5):c.2773C>T (p.Arg925Trp)	GRM5, GRM5-AS1 (R925W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263510	NM_001143831.3(GRM5):c.2542G>A (p.Gly848Arg)	GRM5 (G848R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256647	NM_001143831.3(GRM5):c.3256A>C (p.Ser1086Arg)	GRM5, GRM5-AS1 (S1054R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251894	NM_001143831.3(GRM5):c.3119C>T (p.Pro1040Leu)	GRM5, GRM5-AS1 (P1008L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243267	NM_001143831.3(GRM5):c.1406T>C (p.Met469Thr)	GRM5 (M469T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229379	NM_001143831.3(GRM5):c.3446A>C (p.Glu1149Ala)	GRM5, GRM5-AS1 (E1117A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2221664	NM_001143831.3(GRM5):c.2917G>A (p.Gly973Ser)	GRM5, GRM5-AS1 +1 more (G941S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221569	NM_001143831.3(GRM5):c.2095A>C (p.Ile699Leu)	GRM5 (I699L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217851	NM_001143831.3(GRM5):c.824C>T (p.Ala275Val)	GRM5 (A275V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809349	GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1	AMOTL1, ANGPTL5 +93 more	Copy number loss	not provided	GPathogenic
Select item 1808656	GRCh37/hg19 11q14.1-14.3(chr11:80562738-88663067)x1	ANKRD42, CCDC81 +23 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527656	GRCh37/hg19 11q14.1-21(chr11:84924674-93574799)	C11orf54, CCDC81 +39 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527655	GRCh37/hg19 11q14.1-21(chr11:80318996-96116221)	AMOTL1, ANKRD42 +66 more	Copy number loss	not specified	GPathogenic
Select item 1527654	GRCh37/hg19 11q14.1-22.1(chr11:77855209-98002445)	AMOTL1, ANKRD42 +72 more	Copy number loss	not specified	GPathogenic
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	PCSK7, PGR +183 more	Copy number loss	not provided	GUncertain significance
Select item 1299443	NM_001143831.3(GRM5):c.3200G>A (p.Arg1067His)	GRM5, GRM5-AS1 (R1035H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1127855	NM_001143831.3(GRM5):c.3128A>C (p.His1043Pro)	GRM5, GRM5-AS1 (H1011P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 996709	NM_001143831.3(GRM5):c.523A>G (p.Thr175Ala)	GRM5 (T175A)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 815449	GRCh37/hg19 11q14.1-14.3(chr11:84830143-92029933)x3	CCDC81, CCDC83 +29 more	Copy number gain	not provided	GPathogenic
Select item 791176	NM_001143831.3(GRM5):c.3333C>T (p.Thr1111=)	GRM5, GRM5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 790650	NM_001143831.3(GRM5):c.1188A>G (p.Lys396=)	GRM5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 788703	NM_001143831.3(GRM5):c.657A>C (p.Thr219=)	GRM5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 788115	NM_001143831.3(GRM5):c.2610C>A (p.Gly870=)	GRM5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 788114	NM_001143831.3(GRM5):c.3372G>C (p.Thr1124=)	GRM5, GRM5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 786207	NM_001143831.3(GRM5):c.2778G>A (p.Gly926=)	GRM5, GRM5-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 786206	NM_001143831.3(GRM5):c.2932G>A (p.Gly978Ser)	GRM5, GRM5-AS1 +1 more (G946S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 783640	NM_001143831.3(GRM5):c.2220T>G (p.Val740=)	GRM5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781226	NM_001143831.3(GRM5):c.87T>C (p.Ala29=)	GRM5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 779310	NM_001143831.3(GRM5):c.189G>A (p.Gln63=)	GRM5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777229	NM_001143831.3(GRM5):c.2034G>A (p.Lys678=)	GRM5	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 776643	NM_001143831.3(GRM5):c.1206C>T (p.Asn402=)	GRM5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776642	NM_001143831.3(GRM5):c.1358C>T (p.Thr453Met)	GRM5 (T453M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 773829	NM_001143831.3(GRM5):c.846G>A (p.Thr282=)	GRM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 765034	NM_001143831.3(GRM5):c.912-7C>G	GRM5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 757697	NM_001143831.3(GRM5):c.2505C>T (p.Ser835=)	GRM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 757432	NM_001143831.3(GRM5):c.1497A>G (p.Val499=)	GRM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 757431	NM_001143831.3(GRM5):c.2046C>G (p.Thr682=)	GRM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 756561	NM_001143831.3(GRM5):c.2460G>A (p.Pro820=)	GRM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 756535	NM_001143831.3(GRM5):c.609G>A (p.Val203=)	GRM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 747616	NM_001143831.3(GRM5):c.3354G>A (p.Leu1118=)	GRM5, GRM5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 743523	NM_001143831.3(GRM5):c.3246C>T (p.Thr1082=)	GRM5, GRM5-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 743269	NM_001143831.3(GRM5):c.1686C>T (p.Leu562=)	GRM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 742990	NM_001143831.3(GRM5):c.2340G>A (p.Thr780=)	GRM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 740890	NM_001143831.3(GRM5):c.1122C>T (p.Asn374=)	GRM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 740217	NM_001143831.3(GRM5):c.1266T>C (p.Tyr422=)	GRM5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 738980	NM_001143831.3(GRM5):c.3150C>T (p.Ser1050=)	GRM5, GRM5-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738910	NM_001143831.3(GRM5):c.1888T>C (p.Leu630=)	GRM5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 738197	NM_001143831.3(GRM5):c.2793G>A (p.Gln931=)	GRM5, GRM5-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 736766	NM_001143831.3(GRM5):c.2775G>C (p.Arg925=)	GRM5, GRM5-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734175	NM_001143831.3(GRM5):c.2958C>A (p.Gly986=)	GRM5, GRM5-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734163	NM_001143831.3(GRM5):c.3436G>T (p.Ala1146Ser)	GRM5, GRM5-AS1 (A1114S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 722137	NM_001143831.3(GRM5):c.2415G>A (p.Ser805=)	GRM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 719081	NM_001143831.3(GRM5):c.2970C>G (p.Pro990=)	GRM5-AS1, LOC130006577 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 718722	NM_001143831.3(GRM5):c.1394+8_1394+9del	GRM5	Microsatellite (intron variant)	not provided	GBenign/Likely benign
Select item 718721	NM_001143831.3(GRM5):c.1691-4G>T	GRM5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 717004	NM_001143831.3(GRM5):c.2931G>T (p.Thr977=)	LOC130006577, GRM5 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 716425	NM_001143831.3(GRM5):c.2127T>A (p.Val709=)	GRM5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 713815	NM_001143831.3(GRM5):c.84G>T (p.Val28=)	GRM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 688020	GRCh37/hg19 11q14.2-14.3(chr11:88167693-88505490)x3	GRM5	Copy number gain	not provided	GUncertain significance
Select item 688019	GRCh37/hg19 11q14.2-14.3(chr11:88167693-88505490)x3	GRM5	Copy number gain	not provided	GUncertain significance

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