4192[HGNC] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 174

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	AATK, ACTG1 +387 more	Copy number gain	See cases	GPathogenic
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 149717	GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3	AATK, ACTG1 +262 more	Copy number gain	See cases	GPathogenic
Select item 153720	GRCh38/hg38 17q25.3(chr17:81401966-83084062)x1	ACTG1, ALYREF +226 more	Copy number loss	See cases	GLikely pathogenic
Select item 2377000	NM_000160.5(GCGR):c.8C>T (p.Pro3Leu)	GCGR (P3L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2903688	NM_000160.5(GCGR):c.14A>C (p.Gln5Pro)	GCGR (Q5P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1904240	NM_000160.5(GCGR):c.45G>A (p.Leu15=)	GCGR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2028436	NM_000160.5(GCGR):c.46C>T (p.Leu16=)	GCGR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2291174	NM_000160.5(GCGR):c.53C>A (p.Ala18Asp)	GCGR (A18D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 732515	NM_000160.5(GCGR):c.60+8C>T	GCGR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1579367	NM_000160.5(GCGR):c.61-9G>A	GCGR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1523016	NM_000160.5(GCGR):c.61-3C>A	GCGR	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 16159	NM_000160.5(GCGR):c.118G>A (p.Gly40Ser)	GCGR (G40S)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 3047477	NM_000160.5(GCGR):c.144C>T (p.Ser48=)	GCGR	Single nucleotide variant (synonymous variant)	GCGR-related disorder	GLikely benign
Select item 2727191	NM_000160.5(GCGR):c.154C>A (p.Pro52Thr)	GCGR (P52T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2377818	NM_000160.5(GCGR):c.161C>T (p.Thr54Met)	GCGR (T54M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1618644	NM_000160.5(GCGR):c.163+11del	GCGR	Deletion (intron variant)	not provided	GBenign
Select item 2964641	NM_000160.5(GCGR):c.163+19G>A	GCGR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2145129	NM_000160.5(GCGR):c.186C>T (p.Phe62=)	GCGR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1064739	NM_000160.5(GCGR):c.187G>A (p.Asp63Asn)	GCGR (D63N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2473934	NM_000160.5(GCGR):c.214C>G (p.Pro72Ala)	GCGR (P72A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1991991	NM_000160.5(GCGR):c.217G>A (p.Ala73Thr)	GCGR (A73T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1545432	NM_000160.5(GCGR):c.227C>T (p.Thr76Met)	GCGR (T76M)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2327834	NM_000160.5(GCGR):c.235A>G (p.Ile79Val)	GCGR (I79V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3017978	NM_000160.5(GCGR):c.243C>T (p.Cys81=)	GCGR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988666	NM_000160.5(GCGR):c.245C>T (p.Pro82Leu)	GCGR (P82L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2582843	NM_000160.5(GCGR):c.247del (p.Trp83fs)	GCGR (W83fs)	Deletion (frameshift variant)	GCGR-related hyperglucagonemia	GPathogenic
Select item 1064733	NM_000160.5(GCGR):c.256C>T (p.Pro86Ser)	GCGR (P86S)	Single nucleotide variant (missense variant)	GCGR-related hyperglucagonemia	GPathogenic
Select item 2388607	NM_000160.5(GCGR):c.262C>A (p.His88Asn)	GCGR (H88N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2977789	NM_000160.5(GCGR):c.272-11C>G	GCGR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2084540	NM_000160.5(GCGR):c.280C>T (p.Arg94Cys)	GCGR (R94C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1903449	NM_000160.5(GCGR):c.286G>A (p.Val96Met)	GCGR (V96M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1400962	NM_000160.5(GCGR):c.289T>C (p.Phe97Leu)	GCGR (F97L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1449066	NM_000160.5(GCGR):c.307G>A (p.Asp103Asn)	GCGR (D103N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2905288	NM_000160.5(GCGR):c.309C>T (p.Asp103=)	GCGR	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2405490	NM_000160.5(GCGR):c.319G>T (p.Val107Leu)	GCGR (V107L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2792253	NM_000160.5(GCGR):c.332G>A (p.Arg111Gln)	GCGR (R111Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2273057	NM_000160.5(GCGR):c.335G>A (p.Gly112Glu)	GCGR (G112E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1640968	NM_000160.5(GCGR):c.340C>G (p.Pro114Ala)	GCGR (P114A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2246197	NM_000160.5(GCGR):c.372T>G (p.Asp124Glu)	GCGR (D124E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1509437	NM_000160.5(GCGR):c.376G>A (p.Glu126Lys)	GCGR (E126K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1346915	NM_000160.5(GCGR):c.384T>G (p.Ile128Met)	GCGR (I128M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1669307	NM_000160.5(GCGR):c.393+10C>T	GCGR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1628355	NM_000160.5(GCGR):c.393+10C>A	GCGR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2743385	NM_000160.5(GCGR):c.400G>A (p.Val134Met)	GCGR (V134M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2215686	NM_000160.5(GCGR):c.421T>C (p.Phe141Leu)	GCGR (F141L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1370949	NM_000160.5(GCGR):c.437C>T (p.Thr146Ile)	GCGR (T146I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1953492	NM_000160.5(GCGR):c.464_493del (p.Ala155_Gly164del)	GCGR	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2582844	NM_000160.5(GCGR):c.463del (p.Ala155fs)	GCGR (A155fs)	Deletion (frameshift variant)	GCGR-related hyperglucagonemia	GPathogenic
Select item 1668612	NM_000160.5(GCGR):c.465C>G (p.Ala155=)	GCGR	Single nucleotide variant (synonymous variant)	GCGR-related disorder +1 more	GBenign
Select item 2698555	NM_000160.5(GCGR):c.474C>T (p.Leu158=)	GCGR	Single nucleotide variant (synonymous variant)	GCGR-related disorder +1 more	GLikely benign
Select item 2058098	NM_000160.5(GCGR):c.487C>T (p.Leu163=)	GCGR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2977129	NM_000160.5(GCGR):c.492G>A (p.Gly164=)	GCGR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965221	NM_000160.5(GCGR):c.500+20C>T	GCGR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2394575	NM_000160.5(GCGR):c.515C>T (p.Thr172Ile)	GCGR (T172I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2045573	NM_000160.5(GCGR):c.534G>C (p.Ala178=)	GCGR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2698012	NM_000160.5(GCGR):c.535A>C (p.Asn179His)	GCGR (N179H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3099028	NM_000160.5(GCGR):c.536A>C (p.Asn179Thr)	GCGR (N179T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207425	NM_000160.5(GCGR):c.553G>A (p.Val185Met)	GCGR (V185M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1919302	NM_000160.5(GCGR):c.570C>T (p.Ser190=)	GCGR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1928604	NM_000160.5(GCGR):c.571G>A (p.Val191Met)	GCGR (V191M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2210630	NM_000160.5(GCGR):c.585T>G (p.Asp195Glu)	GCGR (D195E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283648	NM_000160.5(GCGR):c.602G>C (p.Arg201Pro)	GCGR (R201P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2908101	NM_000160.5(GCGR):c.606C>T (p.Tyr202=)	GCGR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2200017	NM_000160.5(GCGR):c.624C>T (p.Asp208=)	GCGR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2064404	NM_000160.5(GCGR):c.657+9C>T	GCGR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2155363	NM_000160.5(GCGR):c.657+10C>T	GCGR	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1907942	NM_000160.5(GCGR):c.657+15G>A	GCGR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1674888	NM_000160.5(GCGR):c.657+16C>T	GCGR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1578492	NM_000160.5(GCGR):c.657+17G>A	GCGR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1547393	NM_000160.5(GCGR):c.658-10C>T	GCGR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1064871	NM_000160.5(GCGR):c.674G>A (p.Arg225His)	GCGR (R225H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1064737	NM_000160.5(GCGR):c.[1102G>A;674G>A]	GCGR (R225H +1 more)	Single nucleotide variant (missense variant)	GCGR-related hyperglucagonemia	GPathogenic
Select item 2144305	NM_000160.5(GCGR):c.684G>A (p.Ala228=)	GCGR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2432080	NM_000160.5(GCGR):c.701G>A (p.Gly234Asp)	GCGR (G234D)	Single nucleotide variant (missense variant)	GCGR-related hyperglucagonemia	GUncertain significance
Select item 1979561	NM_000160.5(GCGR):c.735G>C (p.Glu245Asp)	GCGR (E245D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 778756	NM_000160.5(GCGR):c.735G>A (p.Glu245=)	GCGR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2344737	NM_000160.5(GCGR):c.753C>A (p.Asn251Lys)	GCGR (N251K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1938962	NM_000160.5(GCGR):c.756G>A (p.Leu252=)	GCGR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1906929	NM_000160.5(GCGR):c.760G>C (p.Gly254Arg)	GCGR (G254R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 790374	NM_000160.5(GCGR):c.777C>T (p.Pro259=)	GCGR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2547092	NM_000160.5(GCGR):c.778G>A (p.Glu260Lys)	GCGR (E260K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2067554	NM_000160.5(GCGR):c.783G>A (p.Arg261=)	GCGR	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1539654	NM_000160.5(GCGR):c.810C>T (p.Ile270=)	GCGR	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2827890	NM_000160.5(GCGR):c.817+6T>C	GCGR	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2077621	NM_000160.5(GCGR):c.817+9del	GCGR	Deletion (intron variant)	not provided	GLikely benign
Select item 1592348	NM_000160.5(GCGR):c.818-5C>G	GCGR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2543664	NM_000160.5(GCGR):c.818G>T (p.Gly273Val)	GCGR (G273V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771031	NM_000160.5(GCGR):c.834C>T (p.Phe278=)	GCGR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2886139	NM_000160.5(GCGR):c.838G>A (p.Val280Ile)	GCGR (V280I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1411049	NM_000160.5(GCGR):c.860G>A (p.Cys287Tyr)	GCGR (C287Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1648641	NM_000160.5(GCGR):c.878+12C>T	GCGR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1906233	NM_000160.5(GCGR):c.878+13G>A	GCGR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959361	NM_000160.5(GCGR):c.878+15C>A	GCGR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1608188	NM_000160.5(GCGR):c.879-5C>T	GCGR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3048578	NM_000160.5(GCGR):c.879-4G>A	GCGR	Single nucleotide variant (intron variant)	GCGR-related disorder	GLikely benign
Select item 1064738	NM_000160.5(GCGR):c.879-1G>A	GCGR	Single nucleotide variant (splice acceptor variant)	GCGR-related hyperglucagonemia	GPathogenic

<< First< Prev

Page of 2