ClinVar for MedGen (Select 102469) - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1805150	NM_207037.2(TCF12):c.20dup (p.Met8fs)	TCF12 (M8fs)	Duplication (frameshift variant +1 more)	Hypogonadism with anosmia	GUncertain significance
Select item 1172662	NM_001166114.2(PNPLA6):c.3885dup (p.Ser1296fs)	PNPLA6 (S1231fs +3 more)	Duplication (frameshift variant)	Hypogonadism with anosmia	GPathogenic
Select item 871833	NM_006941.4(SOX10):c.89C>A (p.Ser30Ter)	POLR2F, SOX10 (S30*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 638187	NM_001035235.4(SRA1):c.341G>A (p.Arg114His)	SRA1 (R126H +1 more)	Single nucleotide variant (missense variant +2 more)	Hypogonadism with anosmia	GUncertain significance
Select item 635961	NC_000008.11:g.38463238_38470748del	FGFR1, LOC130000230 +3 more	Deletion	Hypogonadism with anosmia	GPathogenic
Select item 369612	NM_017780.3(CHD7):c.*2104T>A	CHD7	Single nucleotide variant	Hypogonadism with anosmia +1 more	GLikely benign
Select item 363509	NM_017780.4(CHD7):c.*1663AG[1]	CHD7	Microsatellite (3 prime UTR variant)	Hypogonadism with anosmia +1 more	GUncertain significance
Select item 363508	NM_017780.4(CHD7):c.*1644A>G	CHD7	Single nucleotide variant (3 prime UTR variant)	CHARGE syndrome +1 more	GUncertain significance
Select item 363494	NM_017780.4(CHD7):c.*338del	CHD7	Deletion (3 prime UTR variant)	Hypogonadism with anosmia +1 more	GUncertain significance
Select item 363491	NM_017780.4(CHD7):c.*127del	CHD7	Deletion (3 prime UTR variant)	CHARGE syndrome +2 more	GBenign
Select item 363488	NM_017780.4(CHD7):c.8960_8962del (p.Gly2987del)	CHD7 (G2987del +1 more)	Deletion (inframe_deletion)	Hypogonadism with anosmia +2 more	GUncertain significance
Select item 363472	NM_017780.4(CHD7):c.6321C>T (p.His2107=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE syndrome +1 more	GConflicting classifications of pathogenicity
Select item 363462	NM_017780.4(CHD7):c.4811G>C (p.Ser1604Thr)	CHD7 (S1604T)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome +2 more	GUncertain significance
Select item 363458	NM_017780.4(CHD7):c.3222C>T (p.Ser1074=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 363444	NM_017780.4(CHD7):c.892A>G (p.Thr298Ala)	CHD7 (T298A)	Single nucleotide variant (missense variant)	CHARGE syndrome +2 more	GUncertain significance
Select item 363432	NM_017780.4(CHD7):c.-465GCG[8]	CHD7	Microsatellite (5 prime UTR variant)	CHARGE syndrome +1 more	GUncertain significance
Select item 363431	NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCGGCGGCGGCGGCG	CHD7	Indel (5 prime UTR variant)	CHARGE syndrome +1 more	GUncertain significance
Select item 363430	NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCGGCGGCGGCG	CHD7	Indel (5 prime UTR variant)	CHARGE syndrome +1 more	GUncertain significance
Select item 363429	NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCGGCGGCG	CHD7	Indel (5 prime UTR variant)	CHARGE syndrome +1 more	GUncertain significance
Select item 363428	NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCG	CHD7	Indel (5 prime UTR variant)	Hypogonadism with anosmia +1 more	GUncertain significance
Select item 363427	NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCAGCG	CHD7	Indel (5 prime UTR variant)	Hypogonadism with anosmia +1 more	GUncertain significance
Select item 363426	NM_017780.4(CHD7):c.-466delinsGGCGGCGGCG	CHD7	Indel (5 prime UTR variant)	CHARGE syndrome +1 more	GUncertain significance
Select item 363425	NM_017780.4(CHD7):c.-466delinsGGCGGCAGCG	CHD7	Indel (5 prime UTR variant)	Hypogonadism with anosmia +1 more	GUncertain significance
Select item 363424	NM_017780.4(CHD7):c.-467_-466insGGCAGC	CHD7	Insertion (5 prime UTR variant)	Hypogonadism with anosmia +1 more	GUncertain significance
Select item 363422	NM_017780.4(CHD7):c.-466_-461del	CHD7	Deletion (5 prime UTR variant)	Hypogonadism with anosmia +1 more	GUncertain significance
Select item 363419	NM_017780.4(CHD7):c.-490GGC[9]	CHD7	Microsatellite (5 prime UTR variant)	CHARGE syndrome +2 more	GUncertain significance
Select item 363418	NM_017780.4(CHD7):c.-490GGC[10]	CHD7	Microsatellite (5 prime UTR variant)	CHARGE syndrome +2 more	GUncertain significance
Select item 362858	NM_023110.3(FGFR1):c.*2104del	FGFR1, LOC102723716	Deletion (3 prime UTR variant)	Interfrontal craniofaciosynostosis +4 more	GLikely benign
Select item 95776	NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup)	CHD7, LOC126860403	Duplication	Hypogonadism with anosmia +4 more	GBenign/Likely benign
Select item 3451	NM_144773.4(PROKR2):c.254G>A (p.Arg85His)	PROKR2 (R85H)	Single nucleotide variant (missense variant)	Male infertility with azoospermia or oligozoospermia due to single gene mutation +4 more	GConflicting classifications of pathogenicity

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Items: 30