C0342384[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 773847	NM_173648.4(CCDC141):c.4369G>A (p.Val1457Ile)	CCDC141 (V1457I)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +1 more	GLikely benign
Select item 788513	NM_173648.4(CCDC141):c.1667A>G (p.Tyr556Cys)	CCDC141 (Y556C)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +1 more	GBenign/Likely benign
Select item 774291	NM_173648.4(CCDC141):c.1521A>C (p.Gln507His)	CCDC141 (Q507H)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 16025	NM_000406.3(GNRHR):c.851A>G (p.Tyr284Cys)	GNRHR (Y284C)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 7 with or without anosmia	GLikely pathogenic
Select item 16024	NM_000406.3(GNRHR):c.785G>A (p.Arg262Gln)	GNRHR (R262Q)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 449413	NM_000406.3(GNRHR):c.436C>T (p.Pro146Ser)	GNRHR (P146S)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 16030	NM_000406.3(GNRHR):c.416G>A (p.Arg139His)	GNRHR (R139H)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +1 more	GPathogenic
Select item 1458023	NM_000406.3(GNRHR):c.401T>G (p.Val134Gly)	GNRHR (V134G)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +1 more	GPathogenic
Select item 632446	NM_000406.3(GNRHR):c.281T>C (p.Val94Ala)	GNRHR (V94A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 904873	NM_000406.3(GNRHR):c.-8G>A	GNRHR	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 1061205	NM_012431.3(SEMA3E):c.2279G>A (p.Arg760His)	SEMA3E (R700H +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome +1 more	GUncertain significance
Select item 1433236	NM_012431.3(SEMA3E):c.2159G>C (p.Ser720Thr)	SEMA3E (S720T +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1614238	NM_012431.3(SEMA3E):c.2151C>T (p.Ile717=)	SEMA3E	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +2 more	GLikely benign
Select item 645948	NM_012431.3(SEMA3E):c.2133G>T (p.Lys711Asn)	SEMA3E (K651N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 218701	NM_012431.3(SEMA3E):c.2102G>T (p.Ser701Ile)	SEMA3E (S701I +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +3 more	GBenign/Likely benign
Select item 1393173	NM_012431.3(SEMA3E):c.2054A>G (p.Asp685Gly)	SEMA3E (D685G +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +1 more	GUncertain significance
Select item 955728	NM_012431.3(SEMA3E):c.2053G>A (p.Asp685Asn)	SEMA3E (D625N +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1256196	NM_012431.3(SEMA3E):c.2034C>T (p.Val678=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome +2 more	GLikely benign
Select item 810119	NM_012431.3(SEMA3E):c.1991C>T (p.Thr664Met)	SEMA3E (T604M +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +2 more	GUncertain significance
Select item 642340	NM_012431.3(SEMA3E):c.1918C>T (p.Leu640Phe)	SEMA3E (L640F +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +1 more	GUncertain significance
Select item 577680	NM_012431.3(SEMA3E):c.1909C>G (p.Leu637Val)	SEMA3E (L637V +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome +1 more	GUncertain significance
Select item 1052334	NM_012431.3(SEMA3E):c.1856G>A (p.Arg619His)	SEMA3E (R559H +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome +1 more	GUncertain significance
Select item 1546753	NM_012431.3(SEMA3E):c.1732G>A (p.Val578Ile)	SEMA3E (V518I +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +1 more	GLikely benign
Select item 695255	NM_012431.3(SEMA3E):c.1725A>G (p.Gln575=)	SEMA3E	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 529142	NM_012431.3(SEMA3E):c.1680A>G (p.Arg560=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome +2 more	GBenign/Likely benign
Select item 1086971	NM_012431.3(SEMA3E):c.1668-10T>G	SEMA3E	Single nucleotide variant (intron variant)	CHARGE syndrome +1 more	GLikely benign
Select item 1561663	NM_012431.3(SEMA3E):c.1668-16A>G	SEMA3E	Single nucleotide variant (intron variant)	CHARGE syndrome +1 more	GLikely benign
Select item 1320935	NM_012431.3(SEMA3E):c.1630T>C (p.Cys544Arg)	SEMA3E (C484R +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +2 more	GUncertain significance
Select item 1010114	NM_012431.3(SEMA3E):c.1500+5G>A	SEMA3E	Single nucleotide variant (intron variant)	CHARGE syndrome +1 more	GUncertain significance
Select item 575377	NM_012431.3(SEMA3E):c.1498C>T (p.Arg500Trp)	SEMA3E (R500W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 700561	NM_012431.3(SEMA3E):c.1435C>T (p.Leu479=)	SEMA3E	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1576130	NM_012431.3(SEMA3E):c.1366+11G>A	SEMA3E	Single nucleotide variant (intron variant)	CHARGE syndrome +1 more	GLikely benign
Select item 699658	NM_012431.3(SEMA3E):c.1366+10C>T	SEMA3E	Single nucleotide variant (intron variant)	CHARGE syndrome +1 more	GLikely benign
Select item 1492915	NM_012431.3(SEMA3E):c.1296C>A (p.Asn432Lys)	SEMA3E (N432K +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 850659	NM_012431.3(SEMA3E):c.1290A>T (p.Lys430Asn)	SEMA3E (K370N +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +1 more	GUncertain significance
Select item 1449913	NM_012431.3(SEMA3E):c.1177A>T (p.Thr393Ser)	SEMA3E (T393S +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome +1 more	GUncertain significance
Select item 705462	NM_012431.3(SEMA3E):c.1174G>A (p.Gly392Arg)	SEMA3E (G392R +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome +1 more	GLikely benign
Select item 836561	NM_012431.3(SEMA3E):c.1172A>T (p.Tyr391Phe)	SEMA3E (Y331F +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +3 more	GUncertain significance
Select item 1348821	NM_012431.3(SEMA3E):c.1147G>T (p.Ala383Ser)	SEMA3E (A323S +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome +1 more	GUncertain significance
Select item 699649	NM_012431.3(SEMA3E):c.1144-7T>C	SEMA3E	Single nucleotide variant (intron variant)	CHARGE syndrome +1 more	GLikely benign
Select item 968113	NM_012431.3(SEMA3E):c.1076A>G (p.His359Arg)	SEMA3E (H359R +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome +2 more	GUncertain significance
Select item 949670	NM_012431.3(SEMA3E):c.1075C>G (p.His359Asp)	SEMA3E (H359D +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +1 more	GUncertain significance
Select item 653968	NM_012431.3(SEMA3E):c.1049G>A (p.Arg350Gln)	SEMA3E (R290Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 834958	NM_012431.3(SEMA3E):c.1048C>T (p.Arg350Trp)	SEMA3E (R290W +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome +1 more	GUncertain significance
Select item 641084	NM_012431.3(SEMA3E):c.1043G>A (p.Ser348Asn)	SEMA3E (S288N +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +1 more	GUncertain significance
Select item 1431245	NM_012431.3(SEMA3E):c.1009C>T (p.Arg337Ter)	SEMA3E (R337* +1 more)	Single nucleotide variant (nonsense)	CHARGE syndrome +1 more	GUncertain significance
Select item 1417891	NM_012431.3(SEMA3E):c.999-10T>C	SEMA3E	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +1 more	GConflicting classifications of pathogenicity
Select item 1629750	NM_012431.3(SEMA3E):c.999-12T>C	SEMA3E	Single nucleotide variant (intron variant)	CHARGE syndrome +1 more	GLikely benign
Select item 1608834	NM_012431.3(SEMA3E):c.999-16T>C	SEMA3E	Single nucleotide variant (intron variant)	CHARGE syndrome +1 more	GLikely benign
Select item 1385806	NM_012431.3(SEMA3E):c.957T>G (p.Asp319Glu)	SEMA3E (D259E +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome +1 more	GUncertain significance
Select item 459539	NM_012431.3(SEMA3E):c.949A>T (p.Thr317Ser)	SEMA3E (T317S +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1514639	NM_012431.3(SEMA3E):c.781G>A (p.Ala261Thr)	SEMA3E (A201T +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +2 more	GConflicting classifications of pathogenicity
Select item 698850	NM_012431.3(SEMA3E):c.765A>C (p.Ala255=)	SEMA3E	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +1 more	GLikely benign
Select item 701713	NM_012431.3(SEMA3E):c.738C>A (p.Phe246Leu)	SEMA3E (F186L +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome +1 more	GBenign/Likely benign
Select item 1414642	NM_012431.3(SEMA3E):c.659G>A (p.Arg220His)	SEMA3E (R160H +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1605260	NM_012431.3(SEMA3E):c.651C>T (p.Asp217=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome +1 more	GLikely benign
Select item 1063448	NM_012431.3(SEMA3E):c.355G>C (p.Val119Leu)	SEMA3E (V119L +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome +3 more	GUncertain significance
Select item 1408435	NM_012431.3(SEMA3E):c.335C>T (p.Ala112Val)	SEMA3E (A52V +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +1 more	GUncertain significance
Select item 836153	NM_012431.3(SEMA3E):c.320T>A (p.Met107Lys)	SEMA3E (M47K +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome +1 more	GUncertain significance
Select item 1415402	NM_012431.3(SEMA3E):c.266G>A (p.Gly89Asp)	SEMA3E (G29D +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1386686	NM_012431.3(SEMA3E):c.233T>C (p.Val78Ala)	SEMA3E (V18A +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome +2 more	GUncertain significance
Select item 853003	NM_012431.3(SEMA3E):c.196T>C (p.Tyr66His)	SEMA3E (Y66H +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome +2 more	GUncertain significance
Select item 1044183	NM_012431.3(SEMA3E):c.155C>G (p.Pro52Arg)	SEMA3E (P52R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GUncertain significance
Select item 1084086	NM_012431.3(SEMA3E):c.15G>A (p.Gly5=)	SEMA3E	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1192039	NM_001024613.4(FEZF1):c.801+10A>T	FEZF1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 16299	NM_023110.3(FGFR1):c.1097C>T (p.Pro366Leu)	FGFR1 (P366L +5 more)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 180152	NM_023110.3(FGFR1):c.821A>G (p.Glu274Gly)	FGFR1 (E274G +5 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia +8 more	GConflicting classifications of pathogenicity
Select item 695247	NM_018117.12(WDR11):c.2991A>G (p.Thr997=)	WDR11	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 285205	NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr)	POLR3B (M415T +1 more)	Single nucleotide variant (missense variant)	See cases +7 more	GConflicting classifications of pathogenicity
Select item 488794	NM_018082.6(POLR3B):c.1263+2T>C	POLR3B	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease, demyelinating, IIA 1I +4 more	GPathogenic/Likely pathogenic
Select item 31166	NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu)	POLR3B (V523E +1 more)	Single nucleotide variant (missense variant)	not specified +8 more	GPathogenic/Likely pathogenic
Select item 785827	NM_021913.5(AXL):c.1549G>A (p.Gly517Ser)	AXL (G508S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1600907	NM_021913.5(AXL):c.2037-10A>C	AXL	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 180158	NM_144773.4(PROKR2):c.563C>T (p.Ser188Leu)	PROKR2 (S188L)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +2 more	GConflicting classifications of pathogenicity

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Items: 74