8820[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57386	GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1	ABHD6, ACOX2 +217 more	Copy number loss	See cases	GPathogenic
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	ROBO1, ROBO2 +481 more	Copy number loss	See cases	GPathogenic
Select item 346284	NM_003865.3(HESX1):c.*192T>A	HESX1	Single nucleotide variant (3 prime UTR variant)	Combined Pituitary Hormone Deficiency, Dominant/Recessive +1 more	GUncertain significance
Select item 901509	NM_003865.3(HESX1):c.*48G>A	HESX1	Single nucleotide variant (3 prime UTR variant +1 more)	Septo-optic dysplasia sequence	GUncertain significance
Select item 3057419	NM_003865.3(HESX1):c.*1A>G	HESX1	Single nucleotide variant (3 prime UTR variant +1 more)	HESX1-related condition	GLikely benign
Select item 2513263	NM_003865.3(HESX1):c.545A>T (p.Asn182Ile)	HESX1 (N182I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 7693	NM_003865.3(HESX1):c.541A>G (p.Thr181Ala)	HESX1 (T181A)	Single nucleotide variant (missense variant)	Septo-optic dysplasia sequence +3 more	GConflicting classifications of pathogenicity
Select item 197222	NM_003865.3(HESX1):c.525G>A (p.Ala175=)	HESX1	Single nucleotide variant (synonymous variant)	Septo-optic dysplasia sequence +3 more	GConflicting classifications of pathogenicity
Select item 7696	NM_003865.3(HESX1):c.525del (p.Asn178fs)	HESX1 (N178fs)	Deletion (frameshift variant +1 more)	Septo-optic dysplasia sequence	GPathogenic
Select item 1152090	NM_003865.3(HESX1):c.517C>T (p.Leu173=)	HESX1	Single nucleotide variant (synonymous variant +1 more)	Septo-optic dysplasia sequence +1 more	GLikely benign
Select item 197223	NM_003865.3(HESX1):c.511_512del (p.Gln171fs)	HESX1 (Q171fs)	Microsatellite (frameshift variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 7692	NM_003865.3(HESX1):c.509C>T (p.Ser170Leu)	HESX1 (S170L)	Single nucleotide variant (missense variant)	Growth hormone deficiency with pituitary anomalies +2 more	GUncertain significance
Select item 1723118	NM_003865.3(HESX1):c.501T>G (p.His167Gln)	HESX1 (H167Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2165202	NM_003865.3(HESX1):c.498C>T (p.Ser166=)	HESX1	Single nucleotide variant (synonymous variant +1 more)	Septo-optic dysplasia sequence +1 more	GLikely benign
Select item 985575	NM_003865.3(HESX1):c.479G>A (p.Arg160His)	HESX1 (R160H)	Single nucleotide variant (missense variant +1 more)	Septo-optic dysplasia sequence +3 more	GConflicting classifications of pathogenicity
Select item 7691	NM_003865.3(HESX1):c.478C>T (p.Arg160Cys)	HESX1 (R160C)	Single nucleotide variant (missense variant)	Septo-optic dysplasia sequence	GPathogenic
Select item 1206790	NM_003865.3(HESX1):c.475C>T (p.Arg159Trp)	HESX1 (R159W)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1397880	NM_003865.3(HESX1):c.460-3T>C	HESX1	Single nucleotide variant (intron variant)	Growth hormone deficiency with pituitary anomalies +2 more	GUncertain significance
Select item 801979	NM_003865.3(HESX1):c.460-7A>G	HESX1	Single nucleotide variant (intron variant)	Septo-optic dysplasia sequence	GLikely benign
Select item 2191620	NM_003865.3(HESX1):c.460-10T>A	HESX1	Single nucleotide variant (intron variant)	Septo-optic dysplasia sequence +1 more	GLikely benign
Select item 2065769	NM_003865.3(HESX1):c.459+18T>C	HESX1	Single nucleotide variant (intron variant)	Septo-optic dysplasia sequence +1 more	GLikely benign
Select item 2007521	NM_003865.3(HESX1):c.459+15T>C	HESX1	Single nucleotide variant (intron variant)	Septo-optic dysplasia sequence +1 more	GLikely benign
Select item 7697	NM_003865.3(HESX1):c.450_451del (p.Asp150fs)	HESX1 (D150fs)	Deletion (frameshift variant)	Pituitary hormone deficiency, combined 5	GPathogenic
Select item 916724	NM_003865.3(HESX1):c.450C>G (p.Asp150Glu)	HESX1 (D150E)	Single nucleotide variant (missense variant +1 more)	Septo-optic dysplasia sequence	GUncertain significance
Select item 7699	NM_003865.3(HESX1):c.445G>A (p.Glu149Lys)	HESX1 (E149K)	Single nucleotide variant (missense variant)	Growth hormone deficiency with pituitary anomalies	GPathogenic
Select item 2933531	NM_003865.3(HESX1):c.439C>A (p.Leu147Ile)	HESX1 (L147I)	Single nucleotide variant (missense variant +1 more)	Growth hormone deficiency with pituitary anomalies +1 more	GUncertain significance
Select item 2949163	NM_003865.3(HESX1):c.431A>C (p.Lys144Thr)	HESX1 (K144T)	Single nucleotide variant (missense variant +1 more)	Growth hormone deficiency with pituitary anomalies +1 more	GUncertain significance
Select item 2630288	NM_003865.3(HESX1):c.421_422del (p.Leu141fs)	HESX1 (L141fs)	Deletion (frameshift variant +1 more)	HESX1-related condition	GUncertain significance
Select item 1488340	NM_003865.3(HESX1):c.405C>G (p.Ile135Met)	HESX1 (I135M)	Single nucleotide variant (missense variant +1 more)	Septo-optic dysplasia sequence +1 more	GUncertain significance
Select item 1314272	NM_003865.3(HESX1):c.398_403delinsTTGGTT (p.Pro133_Ile135delinsLeuGlyPhe)	HESX1	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 1350388	NM_003865.3(HESX1):c.400G>C (p.Gly134Arg)	HESX1 (G134R)	Single nucleotide variant (missense variant +1 more)	Growth hormone deficiency with pituitary anomalies +1 more	GUncertain significance
Select item 2061888	NM_003865.3(HESX1):c.389del (p.Asn130fs)	HESX1 (N130fs)	Deletion (frameshift variant +1 more)	Septo-optic dysplasia sequence +1 more	GPathogenic
Select item 267733	NM_003865.3(HESX1):c.385G>A (p.Val129Ile)	HESX1 (V129I)	Single nucleotide variant (missense variant)	HESX1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 1512680	NM_003865.3(HESX1):c.373_374delinsGG (p.Asn125Gly)	HESX1 (N125G)	Indel (missense variant +1 more)	Growth hormone deficiency with pituitary anomalies +2 more	GUncertain significance
Select item 282975	NM_003865.3(HESX1):c.374A>G (p.Asn125Ser)	HESX1 (N125S)	Single nucleotide variant (missense variant)	Septo-optic dysplasia sequence +4 more	GBenign/Likely benign
Select item 2064895	NM_003865.3(HESX1):c.358-6dup	HESX1	Duplication (intron variant)	Septo-optic dysplasia sequence +1 more	GBenign
Select item 775200	NM_003865.3(HESX1):c.358-5C>T	HESX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2041566	NM_003865.3(HESX1):c.358-6del	HESX1	Deletion (intron variant)	Growth hormone deficiency with pituitary anomalies +1 more	GBenign
Select item 2943538	NM_003865.3(HESX1):c.358-20T>C	HESX1	Single nucleotide variant (intron variant)	Growth hormone deficiency with pituitary anomalies +1 more	GLikely benign
Select item 7698	NM_003865.3(HESX1):c.357+2T>C	HESX1	Single nucleotide variant (splice donor variant)	Pituitary hormone deficiency, combined 5	GPathogenic
Select item 1191108	NM_003865.3(HESX1):c.357+1G>A	HESX1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2432443	NM_003865.3(HESX1):c.354C>G (p.Asn118Lys)	HESX1 (N118K)	Single nucleotide variant (missense variant)	Septo-optic dysplasia sequence	GUncertain significance
Select item 1417884	NM_003865.3(HESX1):c.350A>C (p.Gln117Pro)	HESX1 (Q117P)	Single nucleotide variant (missense variant)	Septo-optic dysplasia sequence +2 more	GUncertain significance
Select item 2444374	NM_003865.3(HESX1):c.349C>T (p.Gln117Ter)	HESX1 (Q117*)	Single nucleotide variant (nonsense)	Septo-optic dysplasia sequence	GLikely pathogenic
Select item 2132842	NM_003865.3(HESX1):c.335G>C (p.Arg112Thr)	HESX1 (R112T)	Single nucleotide variant (missense variant)	Growth hormone deficiency with pituitary anomalies +1 more	GUncertain significance
Select item 2123821	NM_003865.3(HESX1):c.332C>T (p.Pro111Leu)	HESX1 (P111L)	Single nucleotide variant (missense variant)	Growth hormone deficiency with pituitary anomalies +1 more	GUncertain significance
Select item 497545	NM_003865.3(HESX1):c.326G>A (p.Arg109Gln)	HESX1 (R109Q)	Single nucleotide variant (missense variant)	Male infertility with spermatogenesis disorder +3 more	GConflicting classifications of pathogenicity
Select item 871254	NM_003865.3(HESX1):c.325C>T (p.Arg109Ter)	HESX1 (R109*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2161713	NM_003865.3(HESX1):c.318T>C (p.Tyr106=)	HESX1	Single nucleotide variant (synonymous variant)	Septo-optic dysplasia sequence +1 more	GLikely benign
Select item 2939163	NM_003865.3(HESX1):c.316T>A (p.Tyr106Asn)	HESX1 (Y106N)	Single nucleotide variant (missense variant)	Septo-optic dysplasia sequence +1 more	GUncertain significance
Select item 2420179	NM_003865.3(HESX1):c.316T>G (p.Tyr106Asp)	HESX1 (Y106D)	Single nucleotide variant (missense variant)	Septo-optic dysplasia sequence +1 more	GUncertain significance
Select item 492850	NM_003865.3(HESX1):c.313T>G (p.Trp105Gly)	HESX1 (W105G)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1709304	NM_003865.3(HESX1):c.309G>C (p.Leu103Phe)	HESX1 (L103F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 492849	NM_003865.3(HESX1):c.308T>A (p.Leu103Ter)	HESX1 (L103*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 7694	NM_003865.3(HESX1):c.305_306dup (p.Leu103fs)	HESX1 (L103fs)	Microsatellite (frameshift variant)	Septo-optic dysplasia sequence	GPathogenic
Select item 2163319	NM_003865.3(HESX1):c.305_306del (p.Glu102fs)	HESX1 (E102fs)	Microsatellite (frameshift variant)	Septo-optic dysplasia sequence +1 more	GPathogenic
Select item 2151316	NM_003865.3(HESX1):c.305A>T (p.Glu102Val)	HESX1 (E102V)	Single nucleotide variant (missense variant)	Septo-optic dysplasia sequence +1 more	GUncertain significance
Select item 2132843	NM_003865.3(HESX1):c.303A>G (p.Arg101=)	HESX1	Single nucleotide variant (synonymous variant)	Growth hormone deficiency with pituitary anomalies +1 more	GLikely benign
Select item 2120871	NM_003865.3(HESX1):c.288A>C (p.Arg96Ser)	HESX1 (R96S)	Single nucleotide variant (missense variant)	Growth hormone deficiency with pituitary anomalies +1 more	GUncertain significance
Select item 741511	NM_003865.3(HESX1):c.255G>A (p.Ser85=)	HESX1	Single nucleotide variant (synonymous variant)	Growth hormone deficiency with pituitary anomalies +1 more	GLikely benign
Select item 2294972	NM_003865.3(HESX1):c.254C>A (p.Ser85Ter)	HESX1 (S85*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 444605	NM_003865.3(HESX1):c.254C>T (p.Ser85Leu)	HESX1 (S85L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306861	NM_003865.3(HESX1):c.244G>C (p.Glu82Gln)	HESX1 (E82Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2094701	NM_003865.3(HESX1):c.241G>T (p.Glu81Ter)	HESX1 (E81*)	Single nucleotide variant (nonsense)	Growth hormone deficiency with pituitary anomalies +1 more	GPathogenic
Select item 492848	NM_003865.3(HESX1):c.240del (p.Glu81fs)	HESX1 (E81fs)	Deletion (frameshift variant)	Septo-optic dysplasia sequence +1 more	GPathogenic
Select item 2953886	NM_003865.3(HESX1):c.224T>G (p.Val75Gly)	HESX1 (V75G)	Single nucleotide variant (missense variant)	Growth hormone deficiency with pituitary anomalies +1 more	GUncertain significance
Select item 346285	NM_003865.3(HESX1):c.220G>A (p.Val74Met)	HESX1 (V74M)	Single nucleotide variant (missense variant)	Septo-optic dysplasia sequence +2 more	GUncertain significance
Select item 2074752	NM_003865.3(HESX1):c.219C>T (p.Ser73=)	HESX1	Single nucleotide variant (synonymous variant)	Septo-optic dysplasia sequence +1 more	GUncertain significance
Select item 2472923	NM_003865.3(HESX1):c.218G>A (p.Ser73Asn)	HESX1 (S73N)	Single nucleotide variant (missense variant)	Septo-optic dysplasia sequence +2 more	GUncertain significance
Select item 492847	NM_003865.3(HESX1):c.200G>A (p.Ser67Asn)	HESX1 (S67N)	Single nucleotide variant (missense variant)	Growth hormone deficiency with pituitary anomalies +1 more	GUncertain significance
Select item 289279	NM_003865.3(HESX1):c.200G>C (p.Ser67Thr)	HESX1 (S67T)	Single nucleotide variant (missense variant)	Septo-optic dysplasia sequence +2 more	GUncertain significance
Select item 779725	NM_003865.3(HESX1):c.183T>C (p.His61=)	HESX1	Single nucleotide variant (synonymous variant)	Septo-optic dysplasia sequence +1 more	GConflicting classifications of pathogenicity
Select item 1405989	NM_003865.3(HESX1):c.173del (p.Leu58fs)	HESX1 (L58fs)	Deletion (frameshift variant)	Growth hormone deficiency with pituitary anomalies +1 more	GPathogenic
Select item 721817	NM_003865.3(HESX1):c.171C>T (p.Asn57=)	HESX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3105520	NM_003865.3(HESX1):c.169A>C (p.Asn57His)	HESX1 (N57H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1479755	NM_003865.3(HESX1):c.163G>A (p.Asp55Asn)	HESX1 (D55N)	Single nucleotide variant (missense variant)	Growth hormone deficiency with pituitary anomalies +1 more	GUncertain significance
Select item 1023788	NM_003865.3(HESX1):c.163G>T (p.Asp55Tyr)	HESX1 (D55Y)	Single nucleotide variant (missense variant)	Septo-optic dysplasia sequence +1 more	GUncertain significance
Select item 1488402	NM_003865.3(HESX1):c.158G>A (p.Gly53Glu)	HESX1 (G53E)	Single nucleotide variant (missense variant)	Growth hormone deficiency with pituitary anomalies +1 more	GUncertain significance
Select item 537760	NM_003865.3(HESX1):c.158-1G>C	HESX1	Single nucleotide variant (splice acceptor variant)	Septo-optic dysplasia sequence +1 more	GLikely pathogenic
Select item 1258394	NM_003865.3(HESX1):c.157+140del	HESX1	Deletion (intron variant)	not provided	GBenign
Select item 1248968	NM_003865.3(HESX1):c.157+129T>A	HESX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289887	NM_003865.3(HESX1):c.157+106_157+110del	HESX1	Microsatellite (intron variant)	not provided	GBenign
Select item 2133229	NM_003865.3(HESX1):c.157+19G>T	HESX1	Single nucleotide variant (intron variant)	Growth hormone deficiency with pituitary anomalies +1 more	GLikely benign
Select item 2040518	NM_003865.3(HESX1):c.157+5G>A	HESX1	Single nucleotide variant (intron variant)	Growth hormone deficiency with pituitary anomalies +1 more	GUncertain significance
Select item 3069014	NM_003865.3(HESX1):c.152C>T (p.Ser51Leu)	HESX1 (S51L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1555192	NM_003865.3(HESX1):c.150C>T (p.Ser50=)	HESX1	Single nucleotide variant (synonymous variant)	Septo-optic dysplasia sequence +1 more	GLikely benign
Select item 2653910	NM_003865.3(HESX1):c.147C>T (p.Cys49=)	HESX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1044830	NM_003865.3(HESX1):c.137C>T (p.Ala46Val)	HESX1 (A46V)	Single nucleotide variant (missense variant)	Septo-optic dysplasia sequence +2 more	GUncertain significance
Select item 1470869	NM_003865.3(HESX1):c.135G>A (p.Trp45Ter)	HESX1 (W45*)	Single nucleotide variant (nonsense)	Septo-optic dysplasia sequence +1 more	GPathogenic
Select item 2927333	NM_003865.3(HESX1):c.131C>T (p.Pro44Leu)	HESX1 (P44L)	Single nucleotide variant (missense variant)	Growth hormone deficiency with pituitary anomalies +1 more	GUncertain significance
Select item 1030719	NM_003865.3(HESX1):c.124C>T (p.His42Tyr)	HESX1 (H42Y)	Single nucleotide variant (missense variant)	Septo-optic dysplasia sequence +2 more	GUncertain significance
Select item 503919	NM_003865.3(HESX1):c.106_107del (p.Val36fs)	HESX1 (V36fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 1968354	NM_003865.3(HESX1):c.105T>C (p.Cys35=)	HESX1	Single nucleotide variant (synonymous variant)	Septo-optic dysplasia sequence +1 more	GLikely benign
Select item 2923453	NM_003865.3(HESX1):c.102C>T (p.Asp34=)	HESX1	Single nucleotide variant (synonymous variant)	Septo-optic dysplasia sequence +1 more	GLikely benign
Select item 2579991	NM_003865.3(HESX1):c.99del (p.Asp34fs)	HESX1 (D34fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 597755	NM_003865.3(HESX1):c.90C>T (p.Asp30=)	HESX1	Single nucleotide variant (synonymous variant)	Growth hormone deficiency with pituitary anomalies +2 more	GBenign/Likely benign
Select item 7695	NM_003865.3(HESX1):c.77T>C (p.Ile26Thr)	HESX1 (I26T)	Single nucleotide variant (missense variant)	Pituitary hormone deficiency, combined 5	GPathogenic
Select item 2060902	NM_003865.3(HESX1):c.75A>G (p.Arg25=)	HESX1	Single nucleotide variant (synonymous variant)	Septo-optic dysplasia sequence +1 more	GLikely benign
Select item 2144847	NM_003865.3(HESX1):c.68T>C (p.Ile23Thr)	HESX1 (I23T)	Single nucleotide variant (missense variant)	Septo-optic dysplasia sequence +1 more	GUncertain significance
Select item 1328541	NM_003865.3(HESX1):c.59C>G (p.Ser20Cys)	HESX1 (S20C)	Single nucleotide variant (missense variant)	Pituitary hormone deficiency, combined, 1	GUncertain significance

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