GRM6[gene] and "single gene"[properties] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 300

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1294766	NM_000843.4(GRM6):c.1012+305T>C	GRM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1165664	NM_000843.4(GRM6):c.1012+9del	GRM6	Deletion (intron variant)	not provided	GBenign
Select item 2018606	NM_000843.4(GRM6):c.1012+7C>T	GRM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 93436	NM_000843.4(GRM6):c.1012G>A (p.Gly338Arg)	GRM6 (G338R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1361676	NM_000843.4(GRM6):c.1009G>A (p.Asp337Asn)	GRM6 (D337N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1659115	NM_000843.4(GRM6):c.1008C>A (p.Ile336=)	GRM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1136544	NM_000843.4(GRM6):c.1008C>T (p.Ile336=)	GRM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1415409	NM_000843.4(GRM6):c.1007T>C (p.Ile336Thr)	GRM6 (I336T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1021772	NM_000843.4(GRM6):c.979A>G (p.Ile327Val)	GRM6 (I327V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1644727	NM_000843.4(GRM6):c.975G>A (p.Gly325=)	GRM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 961442	NM_000843.4(GRM6):c.970G>A (p.Val324Ile)	GRM6 (V324I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1667927	NM_000843.4(GRM6):c.969C>T (p.Ala323=)	GRM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1102547	NM_000843.4(GRM6):c.966G>A (p.Val322=)	GRM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1047356	NM_000843.4(GRM6):c.964G>T (p.Val322Leu)	GRM6 (V322L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1128157	NM_000843.4(GRM6):c.963C>T (p.Asp321=)	GRM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1051484	NM_000843.4(GRM6):c.957G>A (p.Leu319=)	GRM6	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1473607	NM_000843.4(GRM6):c.953G>A (p.Ser318Asn)	GRM6 (S318N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1063835	NM_000843.4(GRM6):c.953G>T (p.Ser318Ile)	GRM6 (S318I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1410250	NM_000843.4(GRM6):c.944C>T (p.Pro315Leu)	GRM6 (P315L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1981243	NM_000843.4(GRM6):c.938C>G (p.Thr313Ser)	GRM6 (T313S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2088887	NM_000843.4(GRM6):c.931G>A (p.Ala311Thr)	GRM6 (A311T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 943059	NM_000843.4(GRM6):c.931G>C (p.Ala311Pro)	GRM6 (A311P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1135208	NM_000843.4(GRM6):c.912C>T (p.Val304=)	GRM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1904538	NM_000843.4(GRM6):c.895G>A (p.Gly299Ser)	GRM6 (G299S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1652739	NM_000843.4(GRM6):c.894C>T (p.Thr298=)	GRM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1503031	NM_000843.4(GRM6):c.894C>A (p.Thr298=)	GRM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 860388	NM_000843.4(GRM6):c.880C>A (p.Gln294Lys)	GRM6 (Q294K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1984264	NM_000843.4(GRM6):c.878G>T (p.Arg293Leu)	GRM6 (R293L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1917656	NM_000843.4(GRM6):c.878G>A (p.Arg293His)	GRM6 (R293H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1918726	NM_000843.4(GRM6):c.877C>T (p.Arg293Cys)	GRM6 (R293C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1519416	NM_000843.4(GRM6):c.875C>T (p.Ala292Val)	GRM6 (A292V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1062195	NM_000843.4(GRM6):c.868G>A (p.Glu290Lys)	GRM6 (E290K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2033906	NM_000843.4(GRM6):c.867G>T (p.Leu289=)	GRM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1478826	NM_000843.4(GRM6):c.860G>A (p.Arg287Gln)	GRM6 (R287Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1026569	NM_000843.4(GRM6):c.860G>C (p.Arg287Pro)	GRM6 (R287P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1907377	NM_000843.4(GRM6):c.858G>C (p.Arg286Ser)	GRM6 (R286S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1146251	NM_000843.4(GRM6):c.858-4C>T	GRM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2776347	NM_000843.4(GRM6):c.858-5A>T	GRM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1137003	NM_000843.4(GRM6):c.858-5A>G	GRM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1560231	NM_000843.4(GRM6):c.858-15C>A	GRM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1252929	NM_000843.4(GRM6):c.857+210G>C	GRM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221993	NM_000843.4(GRM6):c.857+117dup	GRM6	Duplication (intron variant)	not provided	GBenign
Select item 2852607	NM_000843.4(GRM6):c.857+12G>T	GRM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1951619	NM_000843.4(GRM6):c.857+12G>C	GRM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1620011	NM_000843.4(GRM6):c.857+11G>A	GRM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1581861	NM_000843.4(GRM6):c.857+10T>C	GRM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1467388	NM_000843.4(GRM6):c.845A>C (p.Glu282Ala)	GRM6 (E282A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1427500	NM_000843.4(GRM6):c.843T>A (p.Asn281Lys)	GRM6 (N281K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 972211	NM_000843.4(GRM6):c.839C>T (p.Ala280Val)	GRM6 (A280V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1110013	NM_000843.4(GRM6):c.831C>T (p.Ile277=)	GRM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869949	NM_000843.4(GRM6):c.824dup (p.Ile276fs)	GRM6 (I276fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2432309	NM_000843.4(GRM6):c.824G>A (p.Gly275Asp)	GRM6 (G275D)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1B	GUncertain significance
Select item 2015798	NM_000843.4(GRM6):c.823G>A (p.Gly275Ser)	GRM6 (G275S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1107170	NM_000843.4(GRM6):c.822G>T (p.Arg274=)	GRM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1003845	NM_000843.4(GRM6):c.821G>A (p.Arg274Gln)	GRM6 (R274Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1014827	NM_000843.4(GRM6):c.820C>T (p.Arg274Trp)	GRM6 (R274W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1379066	NM_000843.4(GRM6):c.818C>A (p.Ala273Asp)	GRM6 (A273D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2727869	NM_000843.4(GRM6):c.816C>T (p.Asn272=)	GRM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2049400	NM_000843.4(GRM6):c.815A>G (p.Asn272Ser)	GRM6 (N272S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 769675	NM_000843.4(GRM6):c.810G>A (p.Thr270=)	GRM6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 849207	NM_000843.4(GRM6):c.809C>T (p.Thr270Met)	GRM6 (T270M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1057488	NM_000843.4(GRM6):c.803T>C (p.Met268Thr)	GRM6 (M268T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2711574	NM_000843.4(GRM6):c.795G>A (p.Arg265=)	GRM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2788741	NM_000843.4(GRM6):c.768_789dup (p.Ile264fs)	GRM6 (I264fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1514861	NM_000843.4(GRM6):c.787G>A (p.Val263Met)	GRM6 (V263M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1973648	NM_000843.4(GRM6):c.785A>C (p.Lys262Thr)	GRM6 (K262T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1046884	NM_000843.4(GRM6):c.780C>G (p.Phe260Leu)	GRM6 (F260L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3102692	NM_000843.4(GRM6):c.778T>C (p.Phe260Leu)	GRM6 (F260L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610563	NM_000843.4(GRM6):c.772G>A (p.Gly258Arg)	GRM6 (G258R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1500320	NM_000843.4(GRM6):c.770C>T (p.Pro257Leu)	GRM6 (P257L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1522983	NM_000843.4(GRM6):c.768G>T (p.Lys256Asn)	GRM6 (K256N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011426	NM_000843.4(GRM6):c.753T>C (p.Ile251=)	GRM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2634943	NM_000843.4(GRM6):c.746T>C (p.Ile249Thr)	GRM6 (I249T)	Single nucleotide variant (missense variant)	GRM6-related disorder	GUncertain significance
Select item 1956630	NM_000843.4(GRM6):c.736G>T (p.Ala246Ser)	GRM6 (A246S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 99659	NM_000843.4(GRM6):c.733A>G (p.Ile245Val)	GRM6 (I245V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1118906	NM_000843.4(GRM6):c.732T>C (p.Cys244=)	GRM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1360326	NM_000843.4(GRM6):c.731G>A (p.Cys244Tyr)	GRM6 (C244Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 99658	NM_000843.4(GRM6):c.727dup	GRM6	Duplication (splice acceptor variant)	not provided	GPathogenic
Select item 1073427	NC_000005.10:g.178991560del	GRM6	Deletion	not provided	GPathogenic
Select item 1053686	NM_000843.4(GRM6):c.727G>C (p.Val243Leu)	GRM6 (V243L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 99657	NM_000843.4(GRM6):c.727G>T (p.Val243Phe)	GRM6 (V243F)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1B +3 more	GBenign/Likely benign
Select item 1555772	NM_000843.4(GRM6):c.726G>C (p.Gly242=)	GRM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1517314	NM_000843.4(GRM6):c.724G>T (p.Gly242Trp)	GRM6 (G242W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1010081	NM_000843.4(GRM6):c.724G>A (p.Gly242Arg)	GRM6 (G242R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1418861	NM_000843.4(GRM6):c.723G>T (p.Gly241=)	GRM6	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1501907	NM_000843.4(GRM6):c.722G>A (p.Gly241Glu)	GRM6 (G241E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1323038	NM_000843.4(GRM6):c.722-1G>T	GRM6	Single nucleotide variant (splice acceptor variant)	Congenital stationary night blindness 1B	GPathogenic
Select item 2806178	NM_000843.4(GRM6):c.722-2A>C	GRM6	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 950813	NM_000843.4(GRM6):c.722-2del	GRM6	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1164984	NM_000843.4(GRM6):c.722-4C>T	GRM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1603584	NM_000843.4(GRM6):c.722-6G>A	GRM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1648090	NM_000843.4(GRM6):c.722-7C>T	GRM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2162042	NM_000843.4(GRM6):c.722-8A>G	GRM6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1542396	NM_000843.4(GRM6):c.722-13C>A	GRM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1548045	NM_000843.4(GRM6):c.722-19T>G	GRM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 99656	NM_000843.4(GRM6):c.721+83G>T	GRM6	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 1170869	NM_000843.4(GRM6):c.721+20G>A	GRM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1143923	NM_000843.4(GRM6):c.721+17G>A	GRM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963318	NM_000843.4(GRM6):c.721+16C>G	GRM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1921885	NM_000843.4(GRM6):c.721+16C>T	GRM6	Single nucleotide variant (intron variant)	not provided	GLikely benign

<< First< Prev

Page of 3