ClinVar for MedGen (Select 46203) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 374086	NM_001376.5(DYNC1H1):c.7640C>T (p.Pro2547Leu)	DYNC1H1 (P2547L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O +10 more	GConflicting classifications of pathogenicity
Select item 267996	46;XY;inv(4)(q12q13.2)		Inversion	Delayed puberty +1 more	GUncertain significance
Select item 180157	NM_000216.4(ANOS1):c.1369C>T (p.Arg457Ter)	ANOS1 (R457*)	Single nucleotide variant (nonsense)	Hypogonadotropic hypogonadism 7 with or without anosmia +2 more	GPathogenic/Likely pathogenic
Select item 180156	NM_023110.3(FGFR1):c.296A>G (p.Tyr99Cys)	FGFR1 (Y99C +2 more)	Single nucleotide variant (missense variant +1 more)	Delayed puberty +2 more	GPathogenic/Likely pathogenic
Select item 180155	NM_013251.4(TAC3):c.238C>A (p.Arg80Ser)	TAC3 (R80S +1 more)	Single nucleotide variant (missense variant +1 more)	Delayed puberty +1 more	GLikely pathogenic
Select item 180154	NM_023110.3(FGFR1):c.1037_1038del (p.Ser346fs)	FGFR1 (S255fs +5 more)	Microsatellite (frameshift variant)	Pfeiffer syndrome +3 more	GConflicting classifications of pathogenicity
Select item 180153	NM_023110.3(FGFR1):c.1916T>C (p.Ile639Thr)	FGFR1 (I639T +7 more)	Single nucleotide variant (missense variant)	Delayed puberty +2 more	GPathogenic/Likely pathogenic
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 180151	NC_000012.12:g.37253847G>T		Single nucleotide variant	Delayed puberty	GLikely pathogenic
Select item 180150	NM_013251.4(TAC3):c.248A>G (p.His83Arg)	TAC3 (H83R)	Single nucleotide variant (missense variant +2 more)	Delayed puberty +1 more	GConflicting classifications of pathogenicity
Select item 180149	NM_006080.3(SEMA3A):c.2150C>T (p.Thr717Ile)	SEMA3A (T717I)	Single nucleotide variant (missense variant)	Delayed puberty +2 more	GConflicting classifications of pathogenicity
Select item 180148	NM_001059.3(TACR3):c.511G>C (p.Ala171Pro)	TACR3 (A171P)	Single nucleotide variant (missense variant)	Delayed puberty	GLikely pathogenic
Select item 180147	NM_000406.3(GNRHR):c.350T>G (p.Leu117Arg)	GNRHR (L117R)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +1 more	GPathogenic/Likely pathogenic
Select item 180146	NM_017563.5(IL17RD):c.600G>A (p.Trp200Ter)	IL17RD (W200* +1 more)	Single nucleotide variant (nonsense)	Delayed puberty	GLikely pathogenic
Select item 180145	NM_017563.5(IL17RD):c.572C>T (p.Pro191Leu)	IL17RD (P191L +1 more)	Single nucleotide variant (missense variant)	Cerebral arteriovenous malformation +2 more	GConflicting classifications of pathogenicity
Select item 50867	NM_017563.5(IL17RD):c.392A>C (p.Lys131Thr)	IL17RD (K131T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 16293	NM_023110.3(FGFR1):c.2038C>T (p.Gln680Ter)	FGFR1 (Q680* +7 more)	Single nucleotide variant (nonsense)	Hypogonadotropic hypogonadism 2 with or without anosmia +1 more	GPathogenic/Likely pathogenic
Select item 16282	NM_023110.3(FGFR1):c.1864C>T (p.Arg622Ter)	FGFR1 (R622* +7 more)	Single nucleotide variant (nonsense)	Hypogonadotropic hypogonadism 2 with or without anosmia +5 more	GPathogenic/Likely pathogenic