SHBG[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	LOC130060143, LOC130060144 +963 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR6883, MIR744 +923 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	ABR, ABR-AS1 +652 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	LOC126862500, LOC126862501 +461 more	Copy number gain	See cases	GPathogenic
Select item 57356	GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1	ACADVL, ACAP1 +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 2496414	NM_004860.4(FXR2):c.14C>T (p.Ala5Val)	FXR2, LOC130060165 +1 more (A5V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2403154	NM_133491.5(SAT2):c.26C>A (p.Ala9Asp)	SAT2, SHBG (A9D)	Single nucleotide variant (synonymous variant +3 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2338796	NM_001040.5(SHBG):c.277G>T (p.Asp93Tyr)	SHBG (D93Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2599330	NM_001040.5(SHBG):c.350C>T (p.Thr117Met)	SHBG (T59M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3046401	NM_001040.5(SHBG):c.394-10C>G	SHBG	Single nucleotide variant (intron variant)	SHBG-related condition	GLikely benign
Select item 2605852	NM_001040.5(SHBG):c.439G>T (p.Gly147Trp)	SHBG (G89W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3045246	NM_001040.5(SHBG):c.459G>C (p.Leu153=)	SHBG	Single nucleotide variant (synonymous variant)	SHBG-related condition	GLikely benign
Select item 2281344	NM_001040.5(SHBG):c.473G>C (p.Gly158Ala)	SHBG (G42A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292825	NM_001040.5(SHBG):c.484A>G (p.Ser162Gly)	SHBG (S104G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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 condition	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)	Inborn genetic diseases	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 2468120	NM_001040.5(SHBG):c.974C>A (p.Ala325Asp)	SHBG (A325D +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	SHBG-related condition +1 more	GBenign
Select item 2610871	NM_001040.5(SHBG):c.1093G>A (p.Gly365Ser)	SHBG (G250S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 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, ACADVL +66 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 2422139	NC_000017.10:g.(?_7123304)_(8193254_?)del	NEURL4, NLGN2 +69 more	Deletion	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 2422136	NC_000017.10:g.(?_6328780)_(7606804_?)dup	POLR2A, RNASEK +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	KCNAB3, KCTD11 +81 more	Duplication	Dyskeratosis congenita +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	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 66