ClinVar for Gene (Select 2688) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370355	NM_000515.5(GH1):c.640_648del (p.Ser214_Gly216del)	GH-LCR, GH1	Deletion (inframe_deletion)	Autosomal dominant isolated somatotropin deficiency	GUncertain significance
Select item 3366672	NM_000515.5(GH1):c.456+10G>A	GH-LCR, GH1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3363890	NM_000515.5(GH1):c.625C>T (p.Arg209Cys)	GH-LCR, GH1 (R169C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339061	NM_000515.5(GH1):c.529C>G (p.His177Asp)	GH-LCR, GH1 (H137D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234046	NM_000515.5(GH1):c.47_55del (p.Leu16_Leu18del)	GH-LCR, GH1	Deletion (inframe_deletion)	Ateleiotic dwarfism	GUncertain significance
Select item 3148898	GRCh37/hg19 17q23.2-23.3(chr17:58596397-62540700)x3	ACE, APPBP2 +43 more	Copy number gain	See cases	GUncertain significance
Select item 3099698	NM_000515.5(GH1):c.531C>T (p.His177=)	GH-LCR, GH1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3099697	NM_000515.5(GH1):c.267C>G (p.Asn89Lys)	GH-LCR, GH1 (N89K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3099696	NM_000515.5(GH1):c.213G>A (p.Leu71=)	GH-LCR, GH1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3099695	NM_000515.5(GH1):c.152T>C (p.Phe51Ser)	GH-LCR, GH1 (F51S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068888	NC_000017.10:g.(?_61994562)_(61996200_?)dup	GH1	Duplication	not specified	GLikely benign
Select item 3063968	NM_000515.5(GH1):c.172-1G>A	GH-LCR, GH1	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3049530	NM_000515.5(GH1):c.516C>T (p.Phe172=)	GH-LCR, GH1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3042412	NM_000515.5(GH1):c.639C>T (p.Gly213=)	GH-LCR, GH1	Single nucleotide variant (synonymous variant)	GH1-related disorder	GLikely benign
Select item 3040705	NC_000017.11:g.63918992C>T	GH-LCR, GH1	Single nucleotide variant	GH1-related disorder	GLikely benign
Select item 3034899	NM_000515.5(GH1):c.21G>C (p.Thr7=)	GH-LCR, GH1	Single nucleotide variant (synonymous variant)	GH1-related disorder	GLikely benign
Select item 2995428	NM_000515.5(GH1):c.172-15C>T	GH-LCR, GH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987004	NM_000515.5(GH1):c.172-15C>G	GH-LCR, GH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973365	NM_000515.5(GH1):c.474C>T (p.Ser158=)	GH-LCR, GH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966803	NM_000515.5(GH1):c.292-16C>T	GH-LCR, GH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958339	NM_000515.5(GH1):c.456+19G>A	GH-LCR, GH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957101	NM_000515.5(GH1):c.292-19G>A	GH-LCR, GH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955303	NM_000515.5(GH1):c.292-16del	GH-LCR, GH1	Deletion (intron variant)	not provided	GBenign
Select item 2897388	NM_000515.5(GH1):c.150C>G (p.Ala50=)	GH-LCR, GH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895064	NM_000515.5(GH1):c.90T>C (p.Ile30=)	GH-LCR, GH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2796706	NM_000515.5(GH1):c.333G>A (p.Ser111=)	GH-LCR, GH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2788053	NM_000515.5(GH1):c.52C>G (p.Leu18Val)	GH-LCR, GH1 (L18V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2786991	NM_000515.5(GH1):c.510C>G (p.Ser170Arg)	GH-LCR, GH1 (S130R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2718665	NM_000515.5(GH1):c.493T>C (p.Phe165Leu)	GH-LCR, GH1 (F125L +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2710527	NM_000515.5(GH1):c.125G>A (p.Arg42His)	GH-LCR, GH1 (R42H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2691378	NM_000515.5(GH1):c.-5_-4delinsTG	GH-LCR, GH1	Indel (5 prime UTR variant)	not specified	GUncertain significance
Select item 2671969	NM_000515.5(GH1):c.334T>C (p.Trp112Arg)	GH-LCR, GH1 (W112R +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant isolated somatotropin deficiency	GLikely pathogenic
Select item 2648085	NM_000515.5(GH1):c.-5C>T	GH-LCR, GH1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 2627201	NM_000515.5(GH1):c.117T>C (p.Ala39=)	GH-LCR, GH1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2618147	NM_000515.5(GH1):c.304C>T (p.Leu102Phe)	GH-LCR, GH1 (L62F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2576722	NM_000515.5(GH1):c.517G>C (p.Asp173His)	GH-LCR, GH1 (D133H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2484573	NM_000515.5(GH1):c.160T>C (p.Tyr54His)	GH-LCR, GH1 (Y54H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462401	NM_000515.5(GH1):c.295C>A (p.Leu99Ile)	GH-LCR, GH1 (L99I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2444700	NM_000515.5(GH1):c.473G>T (p.Ser158Ile)	GH-LCR, GH1 (S118I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432119	NM_000515.5(GH1):c.308G>A (p.Arg103His)	GH-LCR, GH1 (R103H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2431647	NC_000017.11:g.(63914995_63921260)del	GH1	Deletion	Ateleiotic dwarfism	GPathogenic
Select item 2423184	NC_000017.10:g.(?_61994669)_(61996359_?)del	GH1	Deletion	not provided	GPathogenic
Select item 2423183	NC_000017.10:g.(?_61994669)_(61996359_?)dup	GH1	Duplication	not provided	GUncertain significance
Select item 2423182	NC_000017.10:g.(?_61994669)_(61995030_?)del	GH1	Deletion	not provided	GUncertain significance
Select item 2368225	NM_000515.5(GH1):c.41G>C (p.Gly14Ala)	GH-LCR, GH1 (G14A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2314724	NM_000515.5(GH1):c.359G>A (p.Arg120Lys)	GH-LCR, GH1 (R105K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262849	NM_000515.5(GH1):c.190A>G (p.Lys64Glu)	GH-LCR, GH1 (K64E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2184898	NM_000515.5(GH1):c.410A>G (p.Tyr137Cys)	GH-LCR, GH1 (Y122C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2182354	NM_000515.5(GH1):c.292-16C>G	GH-LCR, GH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2182338	NM_000515.5(GH1):c.172-14G>C	GH-LCR, GH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2158736	NM_000515.5(GH1):c.20C>T (p.Thr7Met)	GH-LCR, GH1 (T7M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2150669	NM_000515.5(GH1):c.466G>T (p.Asp156Tyr)	GH-LCR, GH1 (D116Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2138095	NC_000017.11:g.63918999G>A	GH-LCR, GH1	Single nucleotide variant	not provided	GUncertain significance
Select item 2111752	NM_000515.5(GH1):c.292-18C>A	GH-LCR, GH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2080731	NM_000515.5(GH1):c.114C>T (p.Asn38=)	GH-LCR, GH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2054886	NM_000515.5(GH1):c.251T>C (p.Ile84Thr)	GH-LCR, GH1 (I84T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2052845	NM_000515.5(GH1):c.156C>T (p.Asp52=)	GH-LCR, GH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1987515	NM_000515.5(GH1):c.454G>T (p.Gly152Trp)	GH-LCR, GH1 (G137W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1906306	NM_000515.5(GH1):c.292-14T>C	GH-LCR, GH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1903428	NM_000515.5(GH1):c.195A>G (p.Glu65=)	GH-LCR, GH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1808405	GRCh37/hg19 17q23.3(chr17:61838634-62465444)x4	CCDC47, CD79B +16 more	Copy number gain	not provided	GUncertain significance
Select item 1803339	NM_000515.5(GH1):c.399C>A (p.Asp133Glu)	GH-LCR, GH1 (D118E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1723212	NM_000515.5(GH1):c.11-8C>T	CSHL1, GH1 +1 more	Single nucleotide variant (intron variant)	Ateleiotic dwarfism +1 more	GConflicting classifications of pathogenicity
Select item 1708807	NM_000515.5(GH1):c.414C>A (p.Asp138Glu)	GH1, GH-LCR (D123E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1702861	NM_000515.5(GH1):c.254C>T (p.Pro85Leu)	GH-LCR, GH1 (P70L +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant isolated somatotropin deficiency	GLikely pathogenic
Select item 1679136	NM_000515.5(GH1):c.452T>C (p.Met151Thr)	GH-LCR, GH1 (M111T +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant isolated somatotropin deficiency	GUncertain significance
Select item 1666277	NM_000515.5(GH1):c.456+16G>A	GH-LCR, GH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1635025	NM_000515.5(GH1):c.456+19G>T	GH-LCR, GH1	Single nucleotide variant (intron variant)	Ateleiotic dwarfism +4 more	GBenign/Likely benign
Select item 1492197	NM_000515.5(GH1):c.86C>A (p.Thr29Asn)	GH-LCR, GH1 (T29N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1372380	NM_000515.5(GH1):c.426C>G (p.Asp142Glu)	GH-LCR, GH1 (D127E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303315	NM_000515.5(GH1):c.151T>A (p.Phe51Ile)	GH-LCR, GH1 (F51I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1296769	NC_000017.11:g.63919139C>A	GH-LCR, GH1	Single nucleotide variant	not provided	GBenign
Select item 1296534	NC_000017.11:g.63919116C>A	GH-LCR, GH1	Single nucleotide variant	not provided	GBenign
Select item 1296532	NC_000017.11:g.63918895A>C	GH-LCR, GH1	Single nucleotide variant	not provided	GBenign
Select item 1293215	NM_000515.5(GH1):c.456+90T>A	GH-LCR, GH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278587	NC_000017.11:g.63919181del	GH-LCR, GH1	Deletion	not provided	GBenign
Select item 1275366	NC_000017.11:g.63919146C>A	GH-LCR, GH1	Single nucleotide variant	not provided	GBenign
Select item 1248032	NC_000017.11:g.63918871del	GH-LCR, GH1	Deletion	not provided	GBenign
Select item 1239137	NC_000017.11:g.63918913T>C	GH-LCR, GH1	Single nucleotide variant	not provided	GBenign
Select item 1202529	NC_000017.11:g.63918961A>G	GH-LCR, GH1	Single nucleotide variant	not provided	GUncertain significance
Select item 1072683	NC_000017.10:g.(?_61994669)_(61996136_?)del	GH1	Deletion	not provided	GPathogenic
Select item 1033063	NM_000515.5(GH1):c.188_195delinsTGAAGGAG (p.Pro63Leu)	GH-LCR, GH1 (P63L)	Indel (missense variant +1 more)	Ateleiotic dwarfism	GUncertain significance
Select item 1030836	NM_000515.5(GH1):c.588G>A (p.Met196Ile)	GH-LCR, GH1 (M156I +2 more)	Single nucleotide variant (missense variant)	Ateleiotic dwarfism	GUncertain significance
Select item 1030835	NM_000515.5(GH1):c.302T>C (p.Leu101Pro)	GH-LCR, GH1 (L61P +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant isolated somatotropin deficiency +1 more	GUncertain significance
Select item 1013138	NM_000515.5(GH1):c.178G>A (p.Ala60Thr)	GH-LCR, GH1 (A60T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 998049	NM_000515.5(GH1):c.131A>C (p.His44Pro)	GH-LCR, GH1 (H44P)	Single nucleotide variant (missense variant)	Autosomal dominant isolated somatotropin deficiency	GLikely pathogenic
Select item 982612	NM_000515.5(GH1):c.502A>T (p.Thr168Ser)	GH-LCR, GH1 (T128S +2 more)	Single nucleotide variant (missense variant)	Ateleiotic dwarfism +1 more	GUncertain significance
Select item 892519	NM_000515.5(GH1):c.328C>G (p.Gln110Glu)	GH-LCR, GH1 (Q110E +2 more)	Single nucleotide variant (missense variant)	Decreased response to growth hormone stimulation test	GUncertain significance
Select item 892518	NM_000515.5(GH1):c.350A>G (p.Gln117Arg)	GH-LCR, GH1 (Q102R +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 892517	NM_000515.5(GH1):c.352T>C (p.Phe118Leu)	GH-LCR, GH1 (F118L +2 more)	Single nucleotide variant (missense variant)	Decreased response to growth hormone stimulation test	GUncertain significance
Select item 892516	NM_000515.5(GH1):c.363T>C (p.Ser121=)	GH-LCR, GH1	Single nucleotide variant (synonymous variant)	Decreased response to growth hormone stimulation test +1 more	GConflicting classifications of pathogenicity
Select item 891386	NM_000515.5(GH1):c.-47A>G	GH-LCR, GH1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GLikely benign
Select item 891385	NM_000515.5(GH1):c.-40C>T	GH-LCR, GH1	Single nucleotide variant (5 prime UTR variant)	Decreased response to growth hormone stimulation test	GUncertain significance
Select item 891384	NM_000515.5(GH1):c.-38A>C	GH-LCR, GH1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 891326	NM_000515.5(GH1):c.457A>G (p.Arg153Gly)	GH-LCR, GH1 (R113G +2 more)	Single nucleotide variant (missense variant)	Decreased response to growth hormone stimulation test	GUncertain significance
Select item 891325	NM_000515.5(GH1):c.468T>C (p.Asp156=)	GH-LCR, GH1	Single nucleotide variant (synonymous variant)	Decreased response to growth hormone stimulation test +1 more	GConflicting classifications of pathogenicity
Select item 891324	NM_000515.5(GH1):c.470G>A (p.Gly157Asp)	GH-LCR, GH1 (G142D +2 more)	Single nucleotide variant (missense variant)	Decreased response to growth hormone stimulation test	GUncertain significance
Select item 891323	NM_000515.5(GH1):c.535G>C (p.Asp179His)	GH-LCR, GH1 (D139H +2 more)	Single nucleotide variant (missense variant)	Decreased response to growth hormone stimulation test +1 more	GUncertain significance
Select item 891322	NM_000515.5(GH1):c.559G>A (p.Gly187Arg)	GH-LCR, GH1 (G172R +2 more)	Single nucleotide variant (missense variant)	Decreased response to growth hormone stimulation test	GUncertain significance
Select item 889838	NM_000515.5(GH1):c.21G>A (p.Thr7=)	GH-LCR, GH1	Single nucleotide variant (synonymous variant)	Decreased response to growth hormone stimulation test	GUncertain significance

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