ClinVar for Gene (Select 6462) - ClinVar

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

Links from Gene

Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	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 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 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 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 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 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3046401	NM_001040.5(SHBG):c.394-10C>G	SHBG	Single nucleotide variant (intron variant)	SHBG-related disorder	GLikely benign
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 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 2647367	NM_001040.5(SHBG):c.867T>C (p.Ser289=)	SHBG	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 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 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 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 2498727	GRCh37/hg19 17p13.1(chr17:7004894-7766789)x1	ACADVL, ACAP1 +48 more	Copy number loss	not provided	GPathogenic
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 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 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	ALOX12B, ALOX15B +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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 980123	GRCh37/hg19 17p13.1(chr17:6650649-8040151)x3	TMEM102, TNFSF12 +74 more	Copy number gain	not provided	GPathogenic
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 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 777024	NM_001040.5(SHBG):c.120C>T (p.His40=)	SHBG	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 748155	NM_001040.5(SHBG):c.657A>G (p.Val219=)	SHBG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 716225	NM_001040.5(SHBG):c.942G>A (p.Arg314=)	SHBG	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 710410	NM_001040.5(SHBG):c.74G>A (p.Arg25His)	SHBG (R25H)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
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 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
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 150702	GRCh38/hg38 17p13.1(chr17:7544902-7670581)x3	ATP1B2, CD68 +36 more	Copy number gain	See cases	GUncertain significance
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	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 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	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 59583	GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1	ALOX12B, ALOX15B +191 more	Copy number loss	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 79