ClinVar for MedGen (Select 102469) - ClinVar

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Items: 30

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 18051501.	NM_207037.2(TCF12):c.20dup (p.Met8fs) GRCh37: Chr15:57212130-57212131 GRCh38: Chr15:56919932-56919933	TCF12	M8fs	Hypogonadism with anosmia	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 11726622.	NM_001166114.2(PNPLA6):c.3885dup (p.Ser1296fs) GRCh37: Chr19:7625967-7625968 GRCh38: Chr19:7561081-7561082	PNPLA6	S1231fs, S1258fs, S1296fs, S1306fs	Hypogonadism with anosmia	Pathogenic	criteria provided, single submitter
Select item 8718333.	NM_006941.4(SOX10):c.89C>A (p.Ser30Ter) GRCh37: Chr22:38379703 GRCh38: Chr22:37983696	POLR2F, SOX10	S30*	not provided	Pathogenic (Aug 1, 2018)	criteria provided, single submitter
Select item 6381874.	NM_001035235.4(SRA1):c.341G>A (p.Arg114His) GRCh37: Chr5:139931580 GRCh38: Chr5:140551995	SRA1	R126H, R114H	Hypogonadism with anosmia	Uncertain significance (Jun 11, 2019)	no assertion criteria provided
Select item 6359615.	NC_000008.11:g.38463238_38470748del GRCh37: Chr8:38320755-38328265 GRCh38: Chr8:38463237-38470747	FGFR1, LOC130000230, LOC130000231, LOC130000232, LOC130000233		Hypogonadism with anosmia	Pathogenic (Apr 9, 2019)	criteria provided, single submitter
Select item 3696126.	NM_017780.3(CHD7):c.*2104T>A GRCh37: Chr8:61780596 GRCh38: Chr8:60868037	CHD7		CHARGE association, Hypogonadism with anosmia	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 3635097.	NM_017780.4(CHD7):c.*1663AG[1] GRCh37: Chr8:61780154-61780155 GRCh38: Chr8:60867595-60867596	CHD7		Hypogonadism with anosmia, CHARGE association	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3635088.	NM_017780.4(CHD7):c.*1644A>G GRCh37: Chr8:61780136 GRCh38: Chr8:60867577	CHD7		Hypogonadism with anosmia, CHARGE association	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3634949.	NM_017780.4(CHD7):c.*338del GRCh37: Chr8:61778830 GRCh38: Chr8:60866271	CHD7		Hypogonadism with anosmia, CHARGE association	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36349110.	NM_017780.4(CHD7):c.*127del GRCh37: Chr8:61778610 GRCh38: Chr8:60866051	CHD7		Hypogonadism with anosmia, CHARGE association, not provided	Benign (Apr 21, 2019)	criteria provided, multiple submitters, no conflicts
Select item 36348811.	NM_017780.4(CHD7):c.8960_8962del (p.Gly2987del) GRCh37: Chr8:61778454-61778456 GRCh38: Chr8:60865895-60865897	CHD7	G2987del, G938del	Hypogonadism with anosmia, CHARGE association, not provided	Uncertain significance (Sep 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 36347212.	NM_017780.4(CHD7):c.6321C>T (p.His2107=) GRCh37: Chr8:61765605 GRCh38: Chr8:60853046	CHD7		Hypogonadism with anosmia, CHARGE association	Conflicting interpretations of pathogenicity (Jun 13, 2022)	criteria provided, conflicting interpretations
Select item 36346213.	NM_017780.4(CHD7):c.4811G>C (p.Ser1604Thr) GRCh37: Chr8:61754572 GRCh38: Chr8:60842013	CHD7	S1604T	CHARGE association, Hypogonadotropic hypogonadism 5 with or without anosmia, Hypogonadism with anosmia, CHARGE association	Uncertain significance (Nov 11, 2021)	criteria provided, multiple submitters, no conflicts
Select item 36345814.	NM_017780.4(CHD7):c.3222C>T (p.Ser1074=) GRCh37: Chr8:61736419 GRCh38: Chr8:60823860	CHD7		CHARGE association, Inborn genetic diseases, not provided, Hypogonadism with anosmia	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 36344415.	NM_017780.4(CHD7):c.892A>G (p.Thr298Ala) GRCh37: Chr8:61654883 GRCh38: Chr8:60742324	CHD7	T298A	not provided, CHARGE association, Hypogonadism with anosmia	Uncertain significance (Jan 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 36343216.	NM_017780.4(CHD7):c.-465GCG[8] GRCh37: Chr8:61591350-61591351 GRCh38: Chr8:60678791-60678792	CHD7		CHARGE association, Hypogonadism with anosmia	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36343117.	NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCGGCGGCGGCGGCG GRCh37: Chr8:61591350 GRCh38: Chr8:60678791	CHD7		Hypogonadism with anosmia, CHARGE association	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36343018.	NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCGGCGGCGGCG GRCh37: Chr8:61591350 GRCh38: Chr8:60678791	CHD7		CHARGE association, Hypogonadism with anosmia	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36342919.	NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCGGCGGCG GRCh37: Chr8:61591350 GRCh38: Chr8:60678791	CHD7		CHARGE association, Hypogonadism with anosmia	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36342820.	NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCG GRCh37: Chr8:61591350 GRCh38: Chr8:60678791	CHD7		Hypogonadism with anosmia, CHARGE association	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36342721.	NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCAGCG GRCh37: Chr8:61591350 GRCh38: Chr8:60678791	CHD7		Hypogonadism with anosmia, CHARGE association	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36342622.	NM_017780.4(CHD7):c.-466delinsGGCGGCGGCG GRCh37: Chr8:61591350 GRCh38: Chr8:60678791	CHD7		Hypogonadism with anosmia, CHARGE association	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36342523.	NM_017780.4(CHD7):c.-466delinsGGCGGCAGCG GRCh37: Chr8:61591350 GRCh38: Chr8:60678791	CHD7		CHARGE association, Hypogonadism with anosmia	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36342424.	NM_017780.4(CHD7):c.-467_-466insGGCAGC GRCh37: Chr8:61591347-61591348 GRCh38: Chr8:60678788-60678789	CHD7		Hypogonadism with anosmia, CHARGE association	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36342225.	NM_017780.4(CHD7):c.-466_-461del GRCh37: Chr8:61591345-61591350 GRCh38: Chr8:60678786-60678791	CHD7		CHARGE association, Hypogonadism with anosmia	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36341926.	NM_017780.4(CHD7):c.-490GGC[9] GRCh37: Chr8:61591323-61591324 GRCh38: Chr8:60678764-60678765	CHD7		CHARGE association, Hypogonadism with anosmia	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36341827.	NM_017780.4(CHD7):c.-490GGC[10] GRCh37: Chr8:61591323-61591324 GRCh38: Chr8:60678764-60678765	CHD7		CHARGE association, Hypogonadism with anosmia	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36285828.	NM_023110.3(FGFR1):c.*2104del GRCh37: Chr8:38269042 GRCh38: Chr8:38411524	LOC102723716, FGFR1		Craniosynostosis syndrome, Pfeiffer syndrome, Interfrontal craniofaciosynostosis, Hypogonadism with anosmia, Osteoglophonic dysplasia	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 9577629.	NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup) GRCh37: Chr8:61693942-61693943 GRCh38: Chr8:60781383-60781384	CHD7, LOC126860403		Inborn genetic diseases, not specified, not provided, Hypogonadism with anosmia, CHARGE association	Benign/Likely benign (Sep 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 345130.	NM_144773.4(PROKR2):c.254G>A (p.Arg85His) GRCh37: Chr20:5294762 GRCh38: Chr20:5314116	PROKR2	R85H	PROKR2-related condition, not provided, Hypogonadotropic hypogonadism 3 with or without anosmia, Hypogonadism with anosmia	Conflicting interpretations of pathogenicity (Aug 25, 2023)	criteria provided, conflicting interpretations

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Items: 30