SHBG[gene] - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 57356	GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1	SPEM3, TEKT1 +229 more	Copy number loss	See cases	GPathogenic
Select item 149166	GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3	ACADVL, ACAP1 +182 more	Copy number gain	See cases	GLikely pathogenic
Select item 59583	GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1	ALOX12B, ALOX15B +191 more	Copy number loss	See cases	GPathogenic
Select item 150702	GRCh38/hg38 17p13.1(chr17:7544902-7670581)x3	ATP1B2, CD68 +36 more	Copy number gain	See cases	GUncertain significance
Select item 523161	GRCh38/hg38 17p13.1(chr17:7603519-7768486)x1	ATP1B2, DNAH2 +17 more	Copy number loss	Vascular endothelial growth factor (VEGF) inhibitor response	Gdrug response
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 722504	NM_001040.5(SHBG):c.65G>A (p.Arg22His)	SHBG (R22H)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 710410	NM_001040.5(SHBG):c.74G>A (p.Arg25His)	SHBG (R25H)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
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 777024	NM_001040.5(SHBG):c.120C>T (p.His40=)	SHBG	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 3046401	NM_001040.5(SHBG):c.394-10C>G	SHBG	Single nucleotide variant (intron variant)	SHBG-related disorder	GLikely benign
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 3045246	NM_001040.5(SHBG):c.459G>C (p.Leu153=)	SHBG	Single nucleotide variant (synonymous variant)	SHBG-related disorder	GLikely benign
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 716224	NM_001040.5(SHBG):c.535G>C (p.Ala179Pro)	SHBG (A63P +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 748155	NM_001040.5(SHBG):c.657A>G (p.Val219=)	SHBG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3045050	NM_001040.5(SHBG):c.833G>A (p.Ser278Asn)	SHBG (S162N +3 more)	Single nucleotide variant (missense variant +1 more)	SHBG-related disorder	GLikely benign
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 2647367	NM_001040.5(SHBG):c.867T>C (p.Ser289=)	SHBG	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 716225	NM_001040.5(SHBG):c.942G>A (p.Arg314=)	SHBG	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 1222450	NM_001040.5(SHBG):c.1066G>A (p.Asp356Asn)	SHBG (D240N +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 917853	NM_001040.5(SHBG):c.1126G>A (p.Asp376Asn)	SHBG (D260N +4 more)	Single nucleotide variant (missense variant +1 more)	Sex Hormone-Binding Globulin Deficiency	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
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 2498727	GRCh37/hg19 17p13.1(chr17:7004894-7766789)x1	ACADVL, ACAP1 +48 more	Copy number loss	not provided	GPathogenic
Select item 2424768	NC_000017.10:g.(?_7123304)_(7606804_?)del	ACADVL, ACAP1 +40 more	Deletion	Common variable immunodeficiency	GUncertain significance
Select item 2423278	NC_000017.10:g.(?_7120455)_(8151423_?)del	ALOX15B, ALOXE3 +66 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 2422139	NC_000017.10:g.(?_7123304)_(8193254_?)del	ACADVL, ACAP1 +69 more	Deletion	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 2422136	NC_000017.10:g.(?_6328780)_(7606804_?)dup	ACADVL, ACAP1 +62 more	Duplication	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 1809151	GRCh37/hg19 17p13.1(chr17:7381537-8068400)x3	ALOX12B, ALOX15B +37 more	Copy number gain	not provided	GUncertain significance
Select item 1526567	GRCh37/hg19 17p13.1(chr17:7241916-8692213)	ACAP1, ALOX12B +65 more	Copy number loss	not specified	GPathogenic
Select item 1526566	GRCh37/hg19 17p13.1(chr17:7020054-8086290)	ACADVL, ACAP1 +64 more	Copy number loss	not specified	GPathogenic
Select item 1341139	GRCh37/hg19 17p13.1(chr17:7453504-7734096)x3	FXR2, CD68 +14 more	Copy number gain	not provided	GUncertain significance
Select item 980123	GRCh37/hg19 17p13.1(chr17:6650649-8040151)x3	TMEM102, TNFSF12 +74 more	Copy number gain	not provided	GPathogenic
Select item 831200	NC_000017.10:g.(?_6589506)_(8151374_?)dup	DNAH2, DVL2 +81 more	Duplication	Common variable immunodeficiency +1 more	GUncertain significance
Select item 815901	GRCh37/hg19 17p13.1(chr17:7381536-7535411)x1	TNFSF12-TNFSF13, ZBTB4 +12 more	Copy number loss	not provided	GUncertain significance
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 523158	GRCh37/hg19 17p13.1(chr17:6934163-8217978)x1	ACADVL, ACAP1 +75 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 442648	GRCh37/hg19 17p13.1(chr17:7431013-9868179)x3	ALOX12B, ALOX15B +61 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic

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Items: 79