ClinVar for Gene (Select 2917) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3254966	NM_000844.4(GRM7):c.342C>A (p.Tyr114Ter)	GRM7 (Y114*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities	GPathogenic
Select item 3251940	NM_000844.4(GRM7):c.253G>T (p.Ala85Ser)	GRM7 (A85S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities	GUncertain significance
Select item 3246961	NC_000003.11:g.(?_7188119)_(7348359_?)dup	GRM7	Duplication	not provided	GLikely pathogenic
Select item 3246959	NC_000003.11:g.(?_7620089)_(7722002_?)del	GRM7	Deletion	not provided	GUncertain significance
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3102703	NM_000844.4(GRM7):c.985A>G (p.Ile329Val)	GRM7 (I329V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102702	NM_000844.4(GRM7):c.931G>A (p.Val311Met)	GRM7 (V311M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102701	NM_000844.4(GRM7):c.433G>C (p.Val145Leu)	GRM7 (V145L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102700	NM_000844.4(GRM7):c.415G>A (p.Gly139Ser)	GRM7 (G139S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102699	NM_000844.4(GRM7):c.364T>A (p.Phe122Ile)	GRM7 (F122I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102698	NM_000844.4(GRM7):c.2713A>C (p.Lys905Gln)	GRM7 (K905Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3102697	NM_000844.4(GRM7):c.2479A>G (p.Ile827Val)	GRM7 (I827V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102696	NM_000844.4(GRM7):c.1901C>T (p.Thr634Met)	GRM7 (T634M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102695	NM_000844.4(GRM7):c.1312C>G (p.Pro438Ala)	GRM7 (P438A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102694	NM_000844.4(GRM7):c.1093G>A (p.Ala365Thr)	GRM7 (A365T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102693	NM_000844.4(GRM7):c.1013C>T (p.Pro338Leu)	GRM7 (P338L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 3062673	GRCh37/hg19 3p26.1-25.3(chr3:6306331-11468530)x1	ARPC4, ARPC4-TTLL3 +40 more	Copy number loss	not specified	GPathogenic
Select item 3052395	NM_000844.4(GRM7):c.2698+6058G>A	GRM7	Single nucleotide variant (intron variant)	GRM7-related disorder	GLikely benign
Select item 3050342	NM_000844.4(GRM7):c.327T>C (p.Cys109=)	GRM7	Single nucleotide variant (synonymous variant)	GRM7-related disorder	GLikely benign
Select item 3023245	NM_000844.4(GRM7):c.1488G>T (p.Gly496=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974572	NM_000844.4(GRM7):c.2606C>T (p.Ala869Val)	GRM7 (A869V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968578	NM_000844.4(GRM7):c.2621C>T (p.Ser874Leu)	GRM7 (S874L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2966627	NM_000844.4(GRM7):c.2313T>C (p.Thr771=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896283	NM_000844.4(GRM7):c.2529G>A (p.Pro843=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890905	NM_000844.4(GRM7):c.2025G>A (p.Thr675=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2817071	NM_000844.4(GRM7):c.1376-5C>T	GRM7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2798279	NM_000844.4(GRM7):c.376C>T (p.Leu126Phe)	GRM7 (L126F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2789312	NM_000844.4(GRM7):c.1452C>G (p.Thr484=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2781374	NM_000844.4(GRM7):c.1095C>T (p.Ala365=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2777967	NM_000844.4(GRM7):c.426G>T (p.Pro142=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2776319	NM_000844.4(GRM7):c.51C>T (p.Pro17=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2767677	NM_000844.4(GRM7):c.1470G>C (p.Pro490=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2762432	NM_000844.4(GRM7):c.1329T>C (p.Ala443=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2747786	NM_000844.4(GRM7):c.1739C>T (p.Pro580Leu)	GRM7 (P580L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2732253	NM_000844.4(GRM7):c.1300C>A (p.Arg434=)	GRM7	Single nucleotide variant (synonymous variant)	GRM7-related disorder +1 more	GBenign/Likely benign
Select item 2705602	NM_000844.4(GRM7):c.119C>T (p.Pro40Leu)	GRM7 (P40L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 2671618	Single allele	ARL8B, ARPC4 +36 more	Deletion	not provided	GPathogenic
Select item 2671609	Single allele	ARL8B, BHLHE40 +13 more	Deletion	not provided	GPathogenic
Select item 2662209	NM_000844.4(GRM7):c.1033G>T (p.Gly345Trp)	GRM7 (G345W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2653465	NM_000844.4(GRM7):c.1773T>C (p.Ala591=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653464	NM_000844.4(GRM7):c.1362T>C (p.Asn454=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653463	NM_000844.4(GRM7):c.987C>T (p.Ile329=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653462	NM_000844.4(GRM7):c.300G>T (p.Thr100=)	GRM7	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2653461	NM_000844.4(GRM7):c.228C>T (p.Ile76=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622396	NM_000844.4(GRM7):c.1451C>A (p.Thr484Asn)	GRM7 (T484N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618260	NM_000844.4(GRM7):c.1156A>G (p.Thr386Ala)	GRM7 (T386A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617902	NM_000844.4(GRM7):c.2471C>T (p.Thr824Met)	GRM7 (T824M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580893	GRCh37/hg19 3p26.2-25.3(chr3:3691505-9917651)x1	ARPC4, ARPC4-TTLL3 +29 more	Copy number loss	3p- syndrome	GPathogenic
Select item 2578931	NM_000844.4(GRM7):c.2583A>G (p.Arg861=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2571171	NM_000844.4(GRM7):c.130C>A (p.Arg44=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2529934	NM_000844.4(GRM7):c.1802G>A (p.Gly601Glu)	GRM7 (G601E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513825	NM_000844.4(GRM7):c.311G>A (p.Arg104Gln)	GRM7 (R104Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511527	NM_000844.4(GRM7):c.988G>A (p.Ala330Thr)	GRM7 (A330T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498918	NM_000844.4(GRM7):c.1034-11837G>C	GRM7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2493572	NM_000844.4(GRM7):c.211A>G (p.Lys71Glu)	GRM7 (K71E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485442	NM_000844.4(GRM7):c.349G>A (p.Glu117Lys)	GRM7 (E117K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2442435	NM_000844.4(GRM7):c.837C>A (p.Asn279Lys)	GRM7 (N279K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2423657	NC_000003.11:g.(?_6903076)_(9517775_?)del	CAV3, GRM7 +8 more	Deletion	not provided	GPathogenic
Select item 2420271	NM_000844.4(GRM7):c.2445G>A (p.Ala815=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2414361	NM_000844.4(GRM7):c.956A>G (p.Lys319Arg)	GRM7 (K319R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2385857	NM_000844.4(GRM7):c.1684C>A (p.His562Asn)	GRM7 (H562N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353574	NM_000844.4(GRM7):c.196C>T (p.Pro66Ser)	GRM7 (P66S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330435	NM_000844.4(GRM7):c.883A>G (p.Ile295Val)	GRM7 (I295V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2323022	NM_000844.4(GRM7):c.294C>A (p.Asn98Lys)	GRM7 (N98K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284107	NM_000844.4(GRM7):c.223G>A (p.Gly75Arg)	GRM7 (G75R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280055	NM_000844.4(GRM7):c.2644G>A (p.Asp882Asn)	GRM7 (D882N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261540	NM_000844.4(GRM7):c.631G>A (p.Asp211Asn)	GRM7 (D211N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243859	NM_000844.4(GRM7):c.1304G>A (p.Gly435Asp)	GRM7 (G435D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230854	NM_000844.4(GRM7):c.1111A>G (p.Asn371Asp)	GRM7 (N371D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225490	NM_000844.4(GRM7):c.878+4A>G	GRM7	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2222990	NM_000844.4(GRM7):c.853A>G (p.Ile285Val)	GRM7 (I285V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213916	NM_000844.4(GRM7):c.895G>A (p.Ala299Thr)	GRM7 (A299T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2191867	NM_000844.4(GRM7):c.741A>T (p.Gly247=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2189113	NM_000844.4(GRM7):c.342C>T (p.Tyr114=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2189112	NM_000844.4(GRM7):c.85GCG[3] (p.Ala32del)	GRM7 (A32del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2188142	NM_000844.4(GRM7):c.1583A>G (p.Lys528Arg)	GRM7 (K528R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2183859	NM_000844.4(GRM7):c.716C>T (p.Thr239Met)	GRM7 (T239M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2183356	NM_000844.4(GRM7):c.1025C>T (p.Thr342Met)	GRM7 (T342M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2174216	NM_000844.4(GRM7):c.1311C>T (p.Cys437=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2171033	NM_000844.4(GRM7):c.1566G>A (p.Val522=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2164556	NM_000844.4(GRM7):c.120G>T (p.Pro40=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2155847	NM_000844.4(GRM7):c.2622G>A (p.Ser874=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2117305	NM_000844.4(GRM7):c.1263C>A (p.Ala421=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2113515	NM_000844.4(GRM7):c.303G>T (p.Leu101=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2110094	NM_000844.4(GRM7):c.2678G>T (p.Cys893Phe)	GRM7 (C893F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2106836	NM_000844.4(GRM7):c.1546C>T (p.Arg516Ter)	GRM7 (R516*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2097355	NM_000844.4(GRM7):c.2031A>T (p.Thr677=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2093723	NM_000844.4(GRM7):c.1392A>G (p.Pro464=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2079578	NM_000844.4(GRM7):c.1675A>G (p.Thr559Ala)	GRM7 (T559A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2077764	NM_000844.4(GRM7):c.1732G>A (p.Asp578Asn)	GRM7 (D578N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2074275	NM_000844.4(GRM7):c.846C>T (p.Ala282=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2067433	NM_000844.4(GRM7):c.1175-6G>A	GRM7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2066709	NM_000844.4(GRM7):c.1377T>C (p.Gly459=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2054273	NM_000844.4(GRM7):c.1485C>A (p.Ile495=)	GRM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2053982	NM_000844.4(GRM7):c.85G>A (p.Ala29Thr)	GRM7 (A29T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2043539	NM_000844.4(GRM7):c.1665T>G (p.Phe555Leu)	GRM7 (F555L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2040598	NM_000844.4(GRM7):c.418G>A (p.Glu140Lys)	GRM7 (E140K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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