"Ambry Genetics"[submitter] AND "SHBG"[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3280246	NM_004860.4(FXR2):c.23G>C (p.Gly8Ala)	FXR2, LOC130060165 +1 more (G8A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2496414	NM_004860.4(FXR2):c.14C>T (p.Ala5Val)	FXR2, LOC130060165 +1 more (A5V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222142	NM_004860.4(FXR2):c.10C>G (p.Leu4Val)	FXR2, LOC130060165 +1 more (L4V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392877	NM_133491.5(SAT2):c.472T>G (p.Cys158Gly)	SAT2, SHBG (C124G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307197	NM_133491.5(SAT2):c.411G>A (p.Met137Ile)	SAT2, SHBG (M137I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2279454	NM_133491.5(SAT2):c.334A>C (p.Lys112Gln)	SAT2, SHBG (K112Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3316200	NM_133491.5(SAT2):c.310G>A (p.Gly104Arg)	SAT2, SHBG (G104R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157923	NM_133491.5(SAT2):c.302G>C (p.Arg101Pro)	SAT2, SHBG (R180P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257014	NM_133491.5(SAT2):c.147T>A (p.Asn49Lys)	SAT2, SHBG (N128K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157924	NM_133491.5(SAT2):c.65G>T (p.Arg22Leu)	SAT2, SHBG (R22L)	Single nucleotide variant (synonymous variant +3 more)	not specified	GUncertain significance
Select item 2404543	NM_133491.5(SAT2):c.62T>G (p.Ile21Ser)	SAT2, SHBG (D94E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2403154	NM_133491.5(SAT2):c.26C>A (p.Ala9Asp)	SAT2, SHBG (A9D)	Single nucleotide variant (synonymous variant +3 more)	not specified	GUncertain significance
Select item 3157922	NM_133491.5(SAT2):c.25G>A (p.Ala9Thr)	SAT2, SHBG (A9T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3157921	NM_133491.5(SAT2):c.13C>T (p.Arg5Trp)	SAT2, SHBG (A78V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2539133	NM_133491.5(SAT2):c.10G>A (p.Val4Met)	SAT2, SHBG (R77H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2218313	NM_001040.5(SHBG):c.115G>A (p.Ala39Thr)	SHBG (A39T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289013	NM_001040.5(SHBG):c.125C>T (p.Pro42Leu)	SHBG (P42L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607047	NM_001040.5(SHBG):c.212C>G (p.Ser71Cys)	SHBG (S13C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338796	NM_001040.5(SHBG):c.277G>T (p.Asp93Tyr)	SHBG (D93Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318231	NM_001040.5(SHBG):c.290T>C (p.Met97Thr)	SHBG (M39T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346120	NM_001040.5(SHBG):c.313C>A (p.Pro105Thr)	SHBG (P105T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599330	NM_001040.5(SHBG):c.350C>T (p.Thr117Met)	SHBG (T59M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161579	NM_001040.5(SHBG):c.409G>A (p.Glu137Lys)	SHBG (E137K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605852	NM_001040.5(SHBG):c.439G>T (p.Gly147Trp)	SHBG (G89W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281344	NM_001040.5(SHBG):c.473G>C (p.Gly158Ala)	SHBG (G42A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292825	NM_001040.5(SHBG):c.484A>G (p.Ser162Gly)	SHBG (S104G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318234	NM_001040.5(SHBG):c.518G>A (p.Gly173Glu)	SHBG (G173E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261289	NM_001040.5(SHBG):c.584G>T (p.Arg195Leu)	SHBG (R79L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318232	NM_001040.5(SHBG):c.596G>C (p.Trp199Ser)	SHBG (W141S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206240	NM_001040.5(SHBG):c.809C>T (p.Thr270Ile)	SHBG (T270I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291909	NM_001040.5(SHBG):c.841C>A (p.Leu281Ile)	SHBG (L263I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318233	NM_001040.5(SHBG):c.962C>G (p.Ser321Trp)	SHBG (S205W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468120	NM_001040.5(SHBG):c.974C>A (p.Ala325Asp)	SHBG (A325D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251080	NM_001040.5(SHBG):c.1016T>C (p.Leu339Pro)	SHBG (L223P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341430	NM_001040.5(SHBG):c.1037G>A (p.Arg346His)	SHBG (R288H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610871	NM_001040.5(SHBG):c.1093G>A (p.Gly365Ser)	SHBG (G250S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161578	NM_001040.5(SHBG):c.1193C>A (p.Thr398Asn)	SHBG (T283N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 37