ClinVar (all) for Orgtrack (Select 508944) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2429365	NM_001009944.3(PKD1):c.2624C>T (p.Pro875Leu)	PKD1 (P875L)	Single nucleotide variant (missense variant)	46,XY disorder of sex development	GUncertain significance
Select item 2429364	NM_001395413.1(POR):c.1679C>T (p.Thr560Met)	POR (T510M +3 more)	Single nucleotide variant (missense variant)	46,XY disorder of sex development	GUncertain significance
Select item 2429363	NM_014587.5(SOX8):c.676A>C (p.Thr226Pro)	SOX8 (T226P)	Single nucleotide variant (missense variant)	46,XY disorder of sex development	GUncertain significance
Select item 2429362	NM_006293.4(TYRO3):c.666_667insCACTGCCTGCAGCCCCCTTCAACATCACC (p.Ala223fs)	TYRO3 (A178fs +1 more)	Insertion (frameshift variant)	46,XX disorder of sex development	GUncertain significance
Select item 2429361	NM_000233.4(LHCGR):c.757T>C (p.Ser253Pro)	LHCGR, STON1-GTF2A1L (S253P)	Single nucleotide variant (missense variant +1 more)	46,XY disorder of sex development	GUncertain significance
Select item 2429360	NM_017780.4(CHD7):c.1623C>A (p.His541Gln)	CHD7 (H541Q)	Single nucleotide variant (missense variant)	46,XY disorder of sex development	GUncertain significance
Select item 2429359	NM_000208.4(INSR):c.660_661del (p.Thr221fs)	INSR (T221fs)	Deletion (frameshift variant)	46,XY disorder of sex development	GLikely pathogenic
Select item 2429358	NM_139056.4(ADAMTS16):c.1822_1823del (p.Ser607_His608insTer)	ADAMTS16	Deletion (nonsense +1 more)	46,XY disorder of sex development	GLikely pathogenic
Select item 2429357	NM_014587.5(SOX8):c.694A>C (p.Lys232Gln)	SOX8 (K232Q)	Single nucleotide variant (missense variant)	46,XY disorder of sex development	GUncertain significance
Select item 2429356	NM_006662.3(SRCAP):c.7142G>A (p.Arg2381His)	SRCAP (R2381H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2429355	NM_000142.5(FGFR3):c.1633_1634del (p.Cys545fs)	FGFR3 (C433fs +3 more)	Deletion (frameshift variant +1 more)	46,XY disorder of sex development	GLikely pathogenic