4415[HGNC] - ClinVar - NCBI

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	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 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	LOC129996415, LOC129996416 +435 more	Copy number loss	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC132089395, LOC132089396 +324 more	Copy number loss	See cases	GPathogenic
Select item 57326	GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1	AARS2, ABCC10 +221 more	Copy number loss	See cases	GPathogenic
Select item 1283888	NC_000006.12:g.42960723C>T	GNMT, CNPY3-GNMT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 967584	NM_018960.6(GNMT):c.10A>G (p.Ser4Gly)	CNPY3-GNMT, GNMT (S4G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1168628	NM_018960.6(GNMT):c.12C>T (p.Ser4=)	CNPY3-GNMT, GNMT	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 848514	NM_018960.6(GNMT):c.25C>G (p.Arg9Gly)	GNMT, CNPY3-GNMT (R9G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1959392	NM_018960.6(GNMT):c.38T>G (p.Val13Gly)	CNPY3-GNMT, GNMT (V13G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2887024	NM_018960.6(GNMT):c.41C>G (p.Ala14Gly)	CNPY3-GNMT, GNMT (A14G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2072206	NM_018960.6(GNMT):c.49G>A (p.Gly17Arg)	CNPY3-GNMT, GNMT (G17R)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 1800972	NM_018960.6(GNMT):c.61C>T (p.Gln21Ter)	CNPY3-GNMT, GNMT (Q21*)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance
Select item 2705612	NM_018960.6(GNMT):c.76G>A (p.Glu26Lys)	CNPY3-GNMT, GNMT (E26K)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2819726	NM_018960.6(GNMT):c.82G>A (p.Ala28Thr)	CNPY3-GNMT, GNMT (A28T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2982759	NM_018960.6(GNMT):c.84G>A (p.Ala28=)	CNPY3-GNMT, GNMT	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2592867	NM_018960.6(GNMT):c.88G>A (p.Val30Met)	CNPY3-GNMT, GNMT (V30M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3100661	NM_018960.6(GNMT):c.101A>G (p.Tyr34Cys)	CNPY3-GNMT, GNMT (Y34C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1400150	NM_018960.6(GNMT):c.111C>G (p.Asp37Glu)	CNPY3-GNMT, GNMT (D37E)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2899425	NM_018960.6(GNMT):c.113C>A (p.Thr38Asn)	CNPY3-GNMT, GNMT (T38N)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1957298	NM_018960.6(GNMT):c.142T>C (p.Trp48Arg)	CNPY3-GNMT, GNMT (W48R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1551541	NM_018960.6(GNMT):c.147G>A (p.Leu49=)	CNPY3-GNMT, GNMT	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 4169	NM_018960.6(GNMT):c.149T>C (p.Leu50Pro)	CNPY3-GNMT, GNMT (L50P)	Single nucleotide variant (missense variant +2 more)	Glycine N-methyltransferase deficiency	GPathogenic
Select item 1380758	NM_018960.6(GNMT):c.167A>G (p.His56Arg)	CNPY3-GNMT, GNMT (H56R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2752570	NM_018960.6(GNMT):c.185T>C (p.Leu62Pro)	CNPY3-GNMT, GNMT (L62P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2885689	NM_018960.6(GNMT):c.189dup (p.Val64fs)	CNPY3-GNMT, GNMT (V64fs)	Duplication (frameshift variant +2 more)	not provided	GUncertain significance
Select item 749919	NM_018960.6(GNMT):c.189C>T (p.Asp63=)	CNPY3-GNMT, GNMT	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1910281	NM_018960.6(GNMT):c.191T>C (p.Val64Ala)	CNPY3-GNMT, GNMT (V64A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3100662	NM_018960.6(GNMT):c.194C>T (p.Ala65Val)	CNPY3-GNMT, GNMT (A65V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2767192	NM_018960.6(GNMT):c.201C>G (p.Gly67=)	CNPY3-GNMT, GNMT	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2765934	NM_018960.6(GNMT):c.203C>T (p.Thr68Ile)	CNPY3-GNMT, GNMT (T68I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1238861	NM_018960.6(GNMT):c.206+41G>A	CNPY3-GNMT, GNMT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265698	NM_018960.6(GNMT):c.206+47T>G	CNPY3-GNMT, GNMT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230082	NM_018960.6(GNMT):c.207-111G>A	CNPY3-GNMT, GNMT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2083500	NM_018960.6(GNMT):c.207-5C>T	CNPY3-GNMT, GNMT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2863173	NM_018960.6(GNMT):c.220A>T (p.Met74Leu)	CNPY3-GNMT, GNMT (M74L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1422908	NM_018960.6(GNMT):c.257A>T (p.Asp86Val)	CNPY3-GNMT, GNMT (D20V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3100663	NM_018960.6(GNMT):c.259G>A (p.Ala87Thr)	CNPY3-GNMT, GNMT (A21T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2199482	NM_018960.6(GNMT):c.301A>G (p.Asn101Asp)	CNPY3-GNMT, GNMT (N101D +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3281807	NM_018960.6(GNMT):c.305G>A (p.Arg102Gln)	CNPY3-GNMT, GNMT (R102Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2458339	NM_018960.6(GNMT):c.312C>G (p.His104Gln)	CNPY3-GNMT, GNMT (H104Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 724869	NM_018960.6(GNMT):c.312C>T (p.His104=)	CNPY3-GNMT, GNMT	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1642526	NM_018960.6(GNMT):c.319G>A (p.Ala107Thr)	CNPY3-GNMT, GNMT (A107T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 1534735	NM_018960.6(GNMT):c.324C>T (p.Phe108=)	CNPY3-GNMT, GNMT	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2148497	NM_018960.6(GNMT):c.325G>A (p.Asp109Asn)	CNPY3-GNMT, GNMT (D43N +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2114531	NM_018960.6(GNMT):c.334+16C>T	CNPY3-GNMT, GNMT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1282565	NM_018960.6(GNMT):c.335-191A>G	CNPY3-GNMT, GNMT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272359	NM_018960.6(GNMT):c.335-41A>G	CNPY3-GNMT, GNMT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1547591	NM_018960.6(GNMT):c.339C>T (p.Ile113=)	CNPY3-GNMT, GNMT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1021446	NM_018960.6(GNMT):c.340G>A (p.Glu114Lys)	CNPY3-GNMT, GNMT (E114K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1482830	NM_018960.6(GNMT):c.364G>A (p.Asp122Asn)	CNPY3-GNMT, GNMT (D61N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1115131	NM_018960.6(GNMT):c.373G>A (p.Val125Met)	GNMT, CNPY3-GNMT (V125M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2762058	NM_018960.6(GNMT):c.390G>A (p.Glu130=)	CNPY3-GNMT, GNMT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 779912	NM_018960.6(GNMT):c.411C>T (p.Ile137=)	CNPY3-GNMT, GNMT	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 218931	NM_018960.6(GNMT):c.422A>G (p.Asn141Ser)	CNPY3-GNMT, GNMT (N141S +2 more)	Single nucleotide variant (missense variant +1 more)	Glycine N-methyltransferase deficiency	GPathogenic
Select item 863152	NM_018960.6(GNMT):c.430G>A (p.Ala144Thr)	CNPY3-GNMT, GNMT (A144T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1556295	NM_018960.6(GNMT):c.435C>T (p.His145=)	CNPY3-GNMT, GNMT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1569316	NM_018960.6(GNMT):c.452-15G>A	CNPY3-GNMT, GNMT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3254629	NM_018960.6(GNMT):c.452-2_467delinsTGGTCC	CNPY3-GNMT, GNMT	Indel (splice acceptor variant +1 more)	Glycine N-methyltransferase deficiency	GUncertain significance
Select item 1512202	NM_018960.6(GNMT):c.454G>A (p.Asp152Asn)	GNMT, CNPY3-GNMT (D152N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1043979	NM_018960.6(GNMT):c.467A>C (p.His156Pro)	CNPY3-GNMT, GNMT (H156P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1587938	NM_018960.6(GNMT):c.469C>T (p.Arg157Trp)	CNPY3-GNMT, GNMT (R157W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 3281808	NM_018960.6(GNMT):c.470G>A (p.Arg157Gln)	CNPY3-GNMT, GNMT (R157Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100664	NM_018960.6(GNMT):c.487A>G (p.Ile163Val)	CNPY3-GNMT, GNMT (I97V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2701597	NM_018960.6(GNMT):c.495C>T (p.Ser165=)	CNPY3-GNMT, GNMT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 860853	NM_018960.6(GNMT):c.508G>C (p.Gly170Arg)	CNPY3-GNMT, GNMT (G104R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 1116575	NM_018960.6(GNMT):c.519G>C (p.Leu173=)	CNPY3-GNMT, GNMT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 712933	NM_018960.6(GNMT):c.519G>A (p.Leu173=)	CNPY3-GNMT, GNMT	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 4170	NM_018960.6(GNMT):c.529C>A (p.His177Asn)	CNPY3-GNMT, GNMT (H177N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1502874	NM_018960.6(GNMT):c.530A>G (p.His177Arg)	CNPY3-GNMT, GNMT (H158R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3281809	NM_018960.6(GNMT):c.533G>A (p.Arg178His)	CNPY3-GNMT, GNMT (R159H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1361570	NM_018960.6(GNMT):c.538T>C (p.Tyr180His)	CNPY3-GNMT, GNMT (Y180H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2708627	NM_018960.6(GNMT):c.540C>T (p.Tyr180=)	CNPY3-GNMT, GNMT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1372791	NM_018960.6(GNMT):c.545A>C (p.His182Pro)	CNPY3-GNMT, GNMT (H116P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2484418	NM_018960.6(GNMT):c.554G>T (p.Ser185Ile)	CNPY3-GNMT, GNMT (S119I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1582652	NM_018960.6(GNMT):c.579G>A (p.Lys193=)	CNPY3-GNMT, GNMT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011356	NM_018960.6(GNMT):c.594+11C>G	CNPY3-GNMT, GNMT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2731647	NM_018960.6(GNMT):c.594+13GGGGTG[7]	CNPY3-GNMT, GNMT	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1537267	NM_018960.6(GNMT):c.594+13GGGGTG[6]	CNPY3-GNMT, GNMT	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1626619	NM_018960.6(GNMT):c.594+13GGGGTG[3]	CNPY3-GNMT, GNMT	Microsatellite (intron variant)	not provided	GBenign
Select item 1580545	NM_018960.6(GNMT):c.594+13GGGGTG[2]	CNPY3-GNMT, GNMT	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1537522	NM_018960.6(GNMT):c.594+13GGGGTG[4]	CNPY3-GNMT, GNMT	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1626550	NM_018960.6(GNMT):c.595-20G>A	CNPY3-GNMT, GNMT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1450247	NM_018960.6(GNMT):c.617C>T (p.Thr206Ile)	CNPY3-GNMT, GNMT (T140I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3281810	NM_018960.6(GNMT):c.652A>G (p.Met218Val)	CNPY3-GNMT, GNMT (M157V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1040602	NM_018960.6(GNMT):c.653T>C (p.Met218Thr)	CNPY3-GNMT, GNMT (M157T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2080697	NM_018960.6(GNMT):c.671C>T (p.Thr224Met)	CNPY3-GNMT, GNMT (T158M +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1603804	NM_018960.6(GNMT):c.684G>A (p.Pro228=)	CNPY3-GNMT, GNMT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1413970	NM_018960.6(GNMT):c.686G>C (p.Gly229Ala)	CNPY3-GNMT, GNMT (G163A +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1927299	NM_018960.6(GNMT):c.710G>A (p.Gly237Asp)	CNPY3-GNMT, GNMT (G237D +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1167107	NM_018960.6(GNMT):c.716+22del	CNPY3-GNMT, GNMT	Deletion (intron variant)	not provided	GBenign
Select item 1288001	NM_018960.6(GNMT):c.716+28C>T	CNPY3-GNMT, GNMT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251337	NM_018960.6(GNMT):c.716+37G>A	CNPY3-GNMT, GNMT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1170128	NM_018960.6(GNMT):c.717-12C>G	CNPY3-GNMT, GNMT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2988232	NM_018960.6(GNMT):c.717-3C>T	CNPY3-GNMT, GNMT	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2083938	NM_018960.6(GNMT):c.724C>T (p.Arg242Trp)	CNPY3-GNMT, GNMT (R242W +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1334623	NM_018960.6(GNMT):c.767T>C (p.Leu256Pro)	CNPY3-GNMT, GNMT (L159P +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1484481	NM_018960.6(GNMT):c.776C>T (p.Ala259Val)	CNPY3-GNMT, GNMT (A162V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2918709	NM_018960.6(GNMT):c.788G>T (p.Gly263Val)	CNPY3-GNMT, GNMT (G166V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2043793	NM_018960.6(GNMT):c.805G>A (p.Val269Ile)	CNPY3-GNMT, GNMT (V172I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3100665	NM_018960.6(GNMT):c.814G>A (p.Asp272Asn)	CNPY3-GNMT, GNMT (D206N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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