ClinVar for Gene (Select 2918) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3282908	NM_000845.3(GRM8):c.2163C>G (p.Ile721Met)	GRM8 (I721M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282907	NM_000845.3(GRM8):c.1141A>G (p.Ile381Val)	GRM8 (I176V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102715	NM_000845.3(GRM8):c.482T>C (p.Met161Thr)	GRM8 (M161T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3102714	NM_000845.3(GRM8):c.445G>T (p.Gly149Cys)	GRM8 (G149C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3102713	NM_000845.3(GRM8):c.2309C>T (p.Thr770Met)	GRM8 (T770M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102712	NM_000845.3(GRM8):c.1915A>G (p.Met639Val)	GRM8 (M434V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102711	NM_000845.3(GRM8):c.1839C>G (p.Ile613Met)	GRM8 (I613M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102710	NM_000845.3(GRM8):c.1813T>C (p.Phe605Leu)	GRM8 (F400L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102709	NM_000845.3(GRM8):c.1697G>A (p.Arg566His)	GRM8 (R361H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102708	NM_000845.3(GRM8):c.1510T>C (p.Trp504Arg)	GRM8 (W299R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102707	NM_000845.3(GRM8):c.1339C>T (p.Arg447Trp)	GRM8 (R242W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102706	NM_000845.3(GRM8):c.1315G>A (p.Gly439Arg)	GRM8 (G234R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102705	NM_000845.3(GRM8):c.1255A>G (p.Met419Val)	GRM8 (M214V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102704	NM_000845.3(GRM8):c.1231T>A (p.Ser411Thr)	GRM8 (S411T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062992	GRCh37/hg19 7q31.31-33(chr7:120582003-137699953)x1	AASS, AGBL3 +100 more	Copy number loss	not specified	GPathogenic
Select item 3044864	NM_000845.3(GRM8):c.1878A>T (p.Leu626=)	GRM8	Single nucleotide variant (synonymous variant +1 more)	GRM8-related disorder	GLikely benign
Select item 3044373	NM_000845.3(GRM8):c.2431-10dup	GRM8	Duplication (intron variant)	GRM8-related disorder	GBenign
Select item 3042719	NM_000845.3(GRM8):c.1584G>A (p.Thr528=)	GRM8	Single nucleotide variant (synonymous variant +1 more)	GRM8-related disorder	GLikely benign
Select item 3038215	NM_000845.3(GRM8):c.1157-3C>A	GRM8	Single nucleotide variant (intron variant)	GRM8-related disorder	GBenign
Select item 3033409	NM_000845.3(GRM8):c.2157C>G (p.Pro719=)	GRM8	Single nucleotide variant (synonymous variant +1 more)	GRM8-related disorder	GLikely benign
Select item 2685268	GRCh37/hg19 7q31.33(chr7:126642908-126848563)x1	GRM8	Copy number loss	not provided	GUncertain significance
Select item 2685267	GRCh37/hg19 7q31.33(chr7:126384827-126506598)x1	GRM8	Copy number loss	not provided	GUncertain significance
Select item 2685265	GRCh37/hg19 7q31.33(chr7:126362379-126421341)x1	GRM8	Copy number loss	not provided	GUncertain significance
Select item 2664589	NM_000845.3(GRM8):c.2059C>T (p.Pro687Ser)	GRM8 (P482S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2664578	NM_000845.3(GRM8):c.1042C>T (p.Arg348Ter)	GRM8 (R143* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2657977	NM_000845.3(GRM8):c.1198G>A (p.Gly400Arg)	GRM8 (G195R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2621940	NM_000845.3(GRM8):c.472G>A (p.Val158Met)	GRM8 (V158M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2621578	NM_000845.3(GRM8):c.343C>A (p.Gln115Lys)	GRM8 (Q115K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2611630	NM_000845.3(GRM8):c.773G>A (p.Arg258Lys)	GRM8 (R258K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592522	NM_000845.3(GRM8):c.2677+18T>C	GRM8 (F899L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2589829	NM_000845.3(GRM8):c.406G>A (p.Gly136Arg)	GRM8 (G136R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2568443	NM_000845.3(GRM8):c.1628G>A (p.Gly543Asp)	GRM8 (G543D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554068	NM_000845.3(GRM8):c.1556C>T (p.Pro519Leu)	GRM8 (P314L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553923	NM_000845.3(GRM8):c.1819C>T (p.Arg607Cys)	GRM8 (R402C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547660	NM_000845.3(GRM8):c.20G>T (p.Arg7Leu)	GRM8 (R7L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2531025	NM_000845.3(GRM8):c.53C>A (p.Thr18Asn)	GRM8 (T18N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2522852	NM_000845.3(GRM8):c.1618C>T (p.Arg540Cys)	GRM8 (R335C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487217	NM_000845.3(GRM8):c.839T>C (p.Met280Thr)	GRM8 (M75T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481035	NM_000845.3(GRM8):c.1952G>A (p.Arg651Gln)	GRM8 (R651Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479307	NM_000845.3(GRM8):c.640G>C (p.Gly214Arg)	GRM8 (G214R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466915	NM_000845.3(GRM8):c.358G>A (p.Val120Met)	GRM8 (V120M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2461942	NM_000845.3(GRM8):c.2555G>A (p.Arg852His)	GRM8 (R852H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454243	NM_000845.3(GRM8):c.959A>T (p.Gln320Leu)	GRM8 (Q115L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401589	NM_000845.3(GRM8):c.2158C>T (p.His720Tyr)	GRM8 (H515Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384852	NM_000845.3(GRM8):c.1880C>T (p.Thr627Met)	GRM8 (T627M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382116	NM_000845.3(GRM8):c.390T>G (p.Asp130Glu)	GRM8 (D130E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2358768	NM_000845.3(GRM8):c.1635C>A (p.Asn545Lys)	GRM8 (N545K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358397	NM_000845.3(GRM8):c.20G>A (p.Arg7Gln)	GRM8 (R7Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2340998	NM_000845.3(GRM8):c.1796C>T (p.Thr599Ile)	GRM8 (T394I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336044	NM_000845.3(GRM8):c.329C>T (p.Thr110Ile)	GRM8 (T110I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2331871	NM_000845.3(GRM8):c.2272C>T (p.Leu758Phe)	GRM8 (L758F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316566	NM_000845.3(GRM8):c.1852G>A (p.Gly618Arg)	GRM8 (G618R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314857	NM_000845.3(GRM8):c.1057A>G (p.Asn353Asp)	GRM8 (N148D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310543	NM_000845.3(GRM8):c.26C>G (p.Ala9Gly)	GRM8 (A9G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2304474	NM_000845.3(GRM8):c.2510A>G (p.Lys837Arg)	GRM8 (K837R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270025	NM_000845.3(GRM8):c.1955G>A (p.Arg652Gln)	GRM8 (R447Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256146	NM_000845.3(GRM8):c.538G>T (p.Ala180Ser)	GRM8 (A180S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2255380	NM_000845.3(GRM8):c.182G>A (p.Gly61Glu)	GRM8 (G61E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2232870	NM_000845.3(GRM8):c.2452C>A (p.Leu818Ile)	GRM8 (L818I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227644	NM_000845.3(GRM8):c.2432T>G (p.Met811Arg)	GRM8 (M811R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219598	NM_000845.3(GRM8):c.433G>A (p.Asp145Asn)	GRM8 (D145N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2205971	NM_000845.3(GRM8):c.1870G>A (p.Val624Met)	GRM8 (V624M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808279	GRCh37/hg19 7q31.33(chr7:125593340-126417532)x3	GRM8	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 1707621	GRCh37/hg19 7q31.33(chr7:126392370-126446732)x1	GRM8	Copy number loss	Syndromic anorectal malformation	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527394	GRCh37/hg19 7q31.33-33(chr7:124103982-134693590)	BPGM, CALD1 +65 more	Copy number loss	not specified	GPathogenic
Select item 1527391	GRCh37/hg19 7q31.33-33(chr7:123967475-132729981)	ZC3HC1, ZNF800 +55 more	Copy number loss	not specified	GPathogenic
Select item 1527383	GRCh37/hg19 7q22.3-32.1(chr7:106984287-128949489)	PRRT4, PTPRZ1 +92 more	Copy number gain	not specified	GPathogenic
Select item 1341267	GRCh37/hg19 7q31.33(chr7:125387232-126441223)x1	GRM8	Copy number loss	not provided	GLikely benign
Select item 1299094	NM_000845.3(GRM8):c.2009C>G (p.Thr670Arg)	GRM8 (T465R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1047873	GRCh37/hg19 7q31.2-31.33(chr7:116297277-126370694)	AASS, ANKRD7 +35 more	Copy number loss	Global developmental delay +2 more	GPathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 791271	NM_000845.3(GRM8):c.905A>G (p.His302Arg)	GRM8 (H302R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 785232	NM_000845.3(GRM8):c.357C>T (p.Phe119=)	GRM8	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 782707	NM_000845.3(GRM8):c.1464C>T (p.Ile488=)	GRM8	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 776257	NM_000845.3(GRM8):c.693T>C (p.Gly231=)	GRM8	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 770743	NM_000845.3(GRM8):c.1681A>C (p.Arg561=)	GRM8	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 769732	NM_000845.3(GRM8):c.29C>G (p.Ser10Cys)	GRM8 (S10C)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 769731	NM_000845.3(GRM8):c.62T>G (p.Phe21Cys)	GRM8 (F21C)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 768199	NM_000845.3(GRM8):c.1534C>G (p.Pro512Ala)	GRM8 (P307A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 763879	NM_000845.3(GRM8):c.1833A>T (p.Thr611=)	GRM8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 762385	NM_000845.3(GRM8):c.387G>A (p.Ser129=)	GRM8	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 754578	NM_000845.3(GRM8):c.846C>T (p.Ala282=)	GRM8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 751119	NM_000845.3(GRM8):c.2058G>A (p.Ala686=)	GRM8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 749047	NM_000845.3(GRM8):c.2615A>G (p.Lys872Arg)	GRM8 (K872R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 748712	NM_000845.3(GRM8):c.1539G>A (p.Ala513=)	GRM8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 748422	NM_000845.3(GRM8):c.471C>T (p.Ser157=)	GRM8	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 745071	NM_000845.3(GRM8):c.1672C>T (p.Leu558=)	GRM8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 741598	NM_000845.3(GRM8):c.1495-10A>G	GRM8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 740662	NM_000845.3(GRM8):c.2205G>A (p.Lys735=)	GRM8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 737919	NM_000845.3(GRM8):c.1494+10G>A	GRM8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 737062	NM_000845.3(GRM8):c.657G>A (p.Ser219=)	GRM8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 736285	NM_000845.3(GRM8):c.585G>T (p.Val195=)	GRM8	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 736284	NM_000845.3(GRM8):c.1188T>C (p.Tyr396=)	GRM8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 734736	NM_000845.3(GRM8):c.774A>G (p.Arg258=)	GRM8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 730687	NM_000845.3(GRM8):c.794T>C (p.Ile265Thr)	GRM8 (I265T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 727800	NM_000845.3(GRM8):c.1664T>G (p.Leu555Arg)	GRM8 (L350R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 726532	NM_000845.3(GRM8):c.1538C>T (p.Ala513Val)	GRM8 (A308V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 722343	NM_000845.3(GRM8):c.1995C>T (p.Ala665=)	GRM8	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign

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