2688[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
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 15983	NM_000515.5(GH1):c.626G>A (p.Arg209His)	GH1, GH-LCR (R169H +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 500833	NM_000515.5(GH1):c.615C>G (p.Ile205Met)	GH-LCR, GH1 (I205M +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 598615	NM_000515.5(GH1):c.597C>G (p.Val199=)	GH-LCR, GH1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 324450	NM_000515.5(GH1):c.563T>C (p.Leu188Pro)	GH-LCR, GH1 (L188P +2 more)	Single nucleotide variant (missense variant)	Decreased response to growth hormone stimulation test	GUncertain significance
Select item 889781	NM_000515.5(GH1):c.561G>A (p.Gly187=)	GH-LCR, GH1	Single nucleotide variant (synonymous variant)	Decreased response to growth hormone stimulation test	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 284724	NM_000515.5(GH1):c.547C>T (p.Leu183Phe)	GH-LCR, GH1 (L183F +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 703573	NM_000515.5(GH1):c.546A>G (p.Leu182=)	GH-LCR, GH1	Single nucleotide variant (synonymous variant)	Decreased response to growth hormone stimulation test +1 more	GConflicting classifications of pathogenicity
Select item 891323	NM_000515.5(GH1):c.535G>C (p.Asp179His)	GH1, GH-LCR (D139H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 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 3049530	NM_000515.5(GH1):c.516C>T (p.Phe172=)	GH-LCR, GH1	Single nucleotide variant (synonymous variant)	GH1-related disorder +1 more	GLikely benign
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 982612	NM_000515.5(GH1):c.502A>T (p.Thr168Ser)	GH-LCR, GH1 (T128S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 provided	GUncertain significance
Select item 324451	NM_000515.5(GH1):c.478C>T (p.Arg160Trp)	GH-LCR, GH1 (R160W +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 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 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 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 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 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 1293215	NM_000515.5(GH1):c.456+90T>A	GH-LCR, GH1	Single nucleotide variant (intron variant)	not provided	GBenign
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 1635025	NM_000515.5(GH1):c.456+19G>T	GH-LCR, GH1	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 585936	NM_000515.5(GH1):c.456+18G>T	GH-LCR, GH1	Single nucleotide variant (intron variant)	not provided	GBenign
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 324452	NM_000515.5(GH1):c.456+12G>A	GH-LCR, GH1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 15976	NM_000515.5(GH1):c.456+5G>C	GH-LCR, GH1	Single nucleotide variant (intron variant)	Isolated growth hormone deficiency type IB	GPathogenic
Select item 15967	NM_000515.5(GH1):c.456+1G>T	GH-LCR, GH1	Single nucleotide variant (splice donor variant)	Isolated growth hormone deficiency type IB	GPathogenic
Select item 15966	NM_000515.5(GH1):c.456+1G>C	GH-LCR, GH1	Single nucleotide variant (splice donor variant)	Ateleiotic dwarfism	GUncertain significance
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 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 724369	NM_000515.5(GH1):c.450G>C (p.Leu150=)	GH-LCR, GH1	Single nucleotide variant (synonymous variant)	GH1-related disorder +1 more	GLikely benign
Select item 701921	NM_000515.5(GH1):c.447G>A (p.Thr149=)	GH-LCR, GH1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
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 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 15974	NM_000515.5(GH1):c.413A>G (p.Asp138Gly)	GH-LCR, GH1 (D123G +2 more)	Single nucleotide variant (missense variant)	Short stature due to growth hormone qualitative anomaly	GPathogenic
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 197151	NM_000515.5(GH1):c.406G>A (p.Val136Ile)	GH-LCR, GH1 (V136I +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 197150	NM_000515.5(GH1):c.387C>T (p.Tyr129=)	GH-LCR, GH1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 722756	NM_000515.5(GH1):c.379C>T (p.Leu127=)	GH-LCR, GH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 197152	NM_000515.5(GH1):c.370G>A (p.Ala124Thr)	GH-LCR, GH1 (A124T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 892516	NM_000515.5(GH1):c.363T>C (p.Ser121=)	GH-LCR, GH1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 281268	NM_000515.5(GH1):c.363T>A (p.Ser121Arg)	GH-LCR, GH1 (S121R +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely 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 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 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 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 2796706	NM_000515.5(GH1):c.333G>A (p.Ser111=)	GH-LCR, GH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 324453	NM_000515.5(GH1):c.309C>T (p.Arg103=)	GH-LCR, GH1	Single nucleotide variant (synonymous variant)	Isolated congenital growth hormone deficiency	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 15969	NM_000515.5(GH1):c.307C>T (p.Arg103Cys)	GH-LCR, GH1 (R103C +2 more)	Single nucleotide variant (missense variant)	Short stature due to growth hormone qualitative anomaly	GPathogenic
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 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 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 1906306	NM_000515.5(GH1):c.292-14T>C	GH-LCR, GH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 324454	NM_000515.5(GH1):c.292-15G>A	GH1, GH-LCR	Single nucleotide variant (intron variant)	Decreased response to growth hormone stimulation test	GUncertain significance
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 2955303	NM_000515.5(GH1):c.292-16del	GH-LCR, GH1	Deletion (intron variant)	not provided	GBenign
Select item 2182354	NM_000515.5(GH1):c.292-16C>G	GH-LCR, GH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 15982	NM_000515.5(GH1):c.292-37_292-16del	GH-LCR, GH1	Deletion (intron variant)	Autosomal dominant isolated somatotropin deficiency	GPathogenic
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 2957101	NM_000515.5(GH1):c.292-19G>A	GH-LCR, GH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 15973	NM_000515.5(GH1):c.291+29_291+46del	GH1, GH-LCR	Deletion (intron variant)	Autosomal dominant isolated somatotropin deficiency	GPathogenic
Select item 15972	NM_000515.5(GH1):c.291+28G>A	GH-LCR, GH1	Single nucleotide variant (intron variant)	Autosomal dominant isolated somatotropin deficiency	GPathogenic
Select item 889154	NM_000515.5(GH1):c.291+14T>G	GH-LCR, GH1	Single nucleotide variant (intron variant)	Decreased response to growth hormone stimulation test	GUncertain significance
Select item 324455	NM_000515.5(GH1):c.291+8G>T	GH-LCR, GH1	Single nucleotide variant (intron variant)	Decreased response to growth hormone stimulation test	GUncertain significance
Select item 503689	NM_000515.5(GH1):c.291+6T>G	GH-LCR, GH1	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 15968	NM_000515.5(GH1):c.291+6T>C	GH-LCR, GH1	Single nucleotide variant (intron variant)	Autosomal dominant isolated somatotropin deficiency	GPathogenic
Select item 15975	NM_000515.5(GH1):c.291+5G>A	GH-LCR, GH1	Single nucleotide variant (intron variant)	Autosomal dominant isolated somatotropin deficiency	GPathogenic
Select item 15980	NM_000515.5(GH1):c.291+2T>C	GH-LCR, GH1	Single nucleotide variant (intron variant +1 more)	not provided	GPathogenic
Select item 15971	NM_000515.5(GH1):c.291+1G>C	GH-LCR, GH1	Single nucleotide variant (intron variant +1 more)	Autosomal dominant isolated somatotropin deficiency	GPathogenic
Select item 15970	NM_000515.5(GH1):c.291+1G>A	GH-LCR, GH1	Single nucleotide variant (intron variant +1 more)	Short stature due to growth hormone qualitative anomaly +4 more	GPathogenic
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 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 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 889155	NM_000515.5(GH1):c.246G>C (p.Glu82Asp)	GH-LCR, GH1 (E67D +1 more)	Single nucleotide variant (missense variant +1 more)	Isolated growth hormone deficiency type IB +1 more	GUncertain significance
Select item 15962	NM_000515.5(GH1):c.245_246del (p.Glu82fs)	GH-LCR, GH1 (E67fs +1 more)	Microsatellite (frameshift variant +1 more)	Ateleiotic dwarfism	GPathogenic
Select item 15981	NM_000515.5(GH1):c.236G>C (p.Cys79Ser)	GH-LCR, GH1 (C64S +1 more)	Single nucleotide variant (missense variant +1 more)	Short stature due to growth hormone qualitative anomaly	GPathogenic
Select item 431860	NM_000515.5(GH1):c.217A>G (p.Asn73Asp)	GH-LCR, GH1 (N73D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	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 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 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 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 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 15977	NM_000515.5(GH1):c.176A>G (p.Glu59Gly)	GH-LCR, GH1 (E59G)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant isolated somatotropin deficiency	GPathogenic
Select item 15984	NM_000515.5(GH1):c.173A>C (p.Glu58Ala)	GH-LCR, GH1 (E58A)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant isolated somatotropin deficiency	GPathogenic
Select item 15985	NM_000515.5(GH1):c.172G>A (p.Glu58Lys)	GH-LCR, GH1 (E58K)	Single nucleotide variant (missense variant +1 more)	GH1-related disorder	GLikely pathogenic
Select item 3063968	NM_000515.5(GH1):c.172-1G>A	GH1, GH-LCR	Single nucleotide variant (intron variant +1 more)	Idiopathic growth hormone deficiency	GPathogenic
Select item 15979	NM_000515.5(GH1):c.172-2A>T	GH-LCR, GH1	Single nucleotide variant (intron variant +1 more)	Autosomal dominant isolated somatotropin deficiency	GPathogenic
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 2995428	NM_000515.5(GH1):c.172-15C>T	GH1, GH-LCR	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

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