4596[HGNC] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 149966	GRCh38/hg38 6p21.31(chr6:33836334-34176285)x1	GRM4, LINC01016 +18 more	Copy number loss	See cases	GUncertain significance
Select item 3282872	NM_000841.4(GRM4):c.2713G>A (p.Val905Ile)	GRM4 (V905I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787826	NM_000841.4(GRM4):c.2712C>T (p.Tyr904=)	GRM4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3102669	NM_000841.4(GRM4):c.2690C>T (p.Ala897Val)	GRM4 (A589V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102668	NM_000841.4(GRM4):c.2684C>T (p.Ala895Val)	GRM4 (A848V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257145	NM_000841.4(GRM4):c.2671G>C (p.Glu891Gln)	GRM4 (E583Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282876	NM_000841.4(GRM4):c.2566C>T (p.Arg856Cys)	GRM4 (R687C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724537	NM_000841.4(GRM4):c.2532C>A (p.Ile844=)	GRM4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3102666	NM_000841.4(GRM4):c.2506A>G (p.Met836Val)	GRM4 (M528V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102665	NM_000841.4(GRM4):c.2459C>T (p.Thr820Met)	GRM4 (T512M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102664	NM_000841.4(GRM4):c.2456C>T (p.Thr819Met)	GRM4 (T650M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2197446	NM_000841.4(GRM4):c.2441A>T (p.Lys814Met)	GRM4 (K645M +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2392348	NM_000841.4(GRM4):c.2429A>G (p.Gln810Arg)	GRM4 (Q641R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102663	NM_000841.4(GRM4):c.2345A>G (p.Asn782Ser)	GRM4 (N782S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780616	NM_000841.4(GRM4):c.2304C>T (p.Thr768=)	GRM4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3282883	NM_000841.4(GRM4):c.2255C>T (p.Ser752Leu)	GRM4 (S583L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727830	NM_000841.4(GRM4):c.2205C>T (p.Leu735=)	GRM4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 733998	NM_000841.4(GRM4):c.1977G>A (p.Leu659=)	GRM4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 788533	NM_000841.4(GRM4):c.1959G>A (p.Ser653=)	GRM4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2467893	NM_000841.4(GRM4):c.1942G>A (p.Asp648Asn)	GRM4 (D479N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 738471	NM_000841.4(GRM4):c.1941C>T (p.Pro647=)	GRM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2623026	NM_000841.4(GRM4):c.1931T>C (p.Ile644Thr)	GRM4 (I336T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102661	NM_000841.4(GRM4):c.1840G>A (p.Asp614Asn)	GRM4 (D306N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606108	NM_000841.4(GRM4):c.1839C>A (p.Asn613Lys)	GRM4 (N305K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223437	NM_000841.4(GRM4):c.1832G>A (p.Arg611His)	GRM4 (R303H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731096	NM_000841.4(GRM4):c.1713G>A (p.Thr571=)	GRM4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2360759	NM_000841.4(GRM4):c.1712C>T (p.Thr571Met)	GRM4 (T402M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102660	NM_000841.4(GRM4):c.1660C>T (p.Arg554Cys)	GRM4 (R385C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102659	NM_000841.4(GRM4):c.1550G>A (p.Arg517His)	GRM4 (R470H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282877	NM_000841.4(GRM4):c.1549C>T (p.Arg517Cys)	GRM4 (R517C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376896	NM_000841.4(GRM4):c.1538A>C (p.Gln513Pro)	GRM4 (Q205P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788293	NM_000841.4(GRM4):c.1447C>T (p.Arg483Cys)	GRM4 (R367C +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3282881	NM_000841.4(GRM4):c.1418G>A (p.Gly473Glu)	GRM4 (G426E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214363	NM_000841.4(GRM4):c.1397A>G (p.Asn466Ser)	GRM4 (N158S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282874	NM_000841.4(GRM4):c.1309C>T (p.Arg437Cys)	GRM4 (R129C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395875	NM_000841.4(GRM4):c.1294G>A (p.Val432Met)	GRM4 (V263M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361097	NM_000841.4(GRM4):c.1230C>G (p.Ile410Met)	GRM4 (I277M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102658	NM_000841.4(GRM4):c.1172G>A (p.Arg391His)	GRM4 (R258H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232594	NM_000841.4(GRM4):c.967C>T (p.His323Tyr)	GRM4 (H254Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102673	NM_000841.4(GRM4):c.913C>T (p.His305Tyr)	GRM4 (H136Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282875	NM_000841.4(GRM4):c.908C>T (p.Thr303Ile)	GRM4 (T134I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382714	NM_000841.4(GRM4):c.823A>G (p.Thr275Ala)	GRM4 (T142A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528688	NM_000841.4(GRM4):c.772C>T (p.Arg258Trp)	GRM4 (R125W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270520	NM_000841.4(GRM4):c.708G>T (p.Glu236Asp)	GRM4 (E236D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102672	NM_000841.4(GRM4):c.696G>C (p.Glu232Asp)	GRM4 (E63D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313044	NM_000841.4(GRM4):c.689A>G (p.Tyr230Cys)	GRM4 (Y161C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102671	NM_000841.4(GRM4):c.620A>G (p.Gln207Arg)	GRM4 (Q38R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396905	NM_000841.4(GRM4):c.608C>T (p.Thr203Met)	GRM4 (T203M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 741956	NM_000841.4(GRM4):c.520-10C>T	GRM4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3282879	NM_000841.4(GRM4):c.419G>A (p.Gly140Asp)	GRM4 (G140D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3102670	NM_000841.4(GRM4):c.409G>A (p.Gly137Ser)	GRM4 (G137S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2323462	NM_000841.4(GRM4):c.271A>C (p.Asn91His)	GRM4 (N91H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3102667	NM_000841.4(GRM4):c.263G>T (p.Arg88Leu)	GRM4 (R88L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3282880	NM_000841.4(GRM4):c.232C>T (p.Arg78Trp)	GRM4 (R78W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2408179	NM_000841.4(GRM4):c.203G>T (p.Gly68Val)	GRM4 (G68V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1701683	NM_000841.4(GRM4):c.115C>T (p.His39Tyr)	GRM4 (H39Y)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3282882	NM_000841.4(GRM4):c.113C>T (p.Pro38Leu)	GRM4 (P38L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2484325	NM_000841.4(GRM4):c.100C>T (p.Pro34Ser)	GRM4 (P34S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3282873	NM_000841.4(GRM4):c.81G>A (p.Met27Ile)	GRM4 (M27I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ARMC12, BRPF3 +94 more	Duplication	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 814807	GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3	ABHD16A, AGER +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 66