ClinVar for Gene (Select 6753) - ClinVar

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Links from Gene

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3322876	NM_001051.5(SSTR3):c.256C>G (p.Leu86Val)	SSTR3 (L86V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322875	NM_001051.5(SSTR3):c.988C>T (p.Arg330Trp)	SSTR3 (R330W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322874	NM_001051.5(SSTR3):c.1114G>A (p.Gly372Ser)	SSTR3 (G372S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322873	NM_001051.5(SSTR3):c.188C>T (p.Ser63Leu)	SSTR3 (S63L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322872	NM_001051.5(SSTR3):c.541T>C (p.Phe181Leu)	SSTR3 (F181L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170516	NM_001051.5(SSTR3):c.599C>T (p.Ala200Val)	SSTR3 (A200V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170515	NM_001051.5(SSTR3):c.515C>T (p.Ala172Val)	SSTR3 (A172V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170514	NM_001051.5(SSTR3):c.457C>T (p.Arg153Cys)	SSTR3 (R153C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170513	NM_001051.5(SSTR3):c.23C>T (p.Ser8Leu)	SSTR3 (S8L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170512	NM_001051.5(SSTR3):c.235A>T (p.Thr79Ser)	SSTR3 (T79S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170511	NM_001051.5(SSTR3):c.221C>A (p.Ala74Asp)	SSTR3 (A74D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170509	NM_001051.5(SSTR3):c.176T>G (p.Leu59Arg)	SSTR3 (L59R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170508	NM_001051.5(SSTR3):c.1163C>T (p.Pro388Leu)	SSTR3 (P388L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170507	NM_001051.5(SSTR3):c.1159C>T (p.Arg387Trp)	SSTR3 (R387W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170506	NM_001051.5(SSTR3):c.1142G>A (p.Gly381Asp)	SSTR3 (G381D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170505	NM_001051.5(SSTR3):c.1133C>T (p.Thr378Met)	SSTR3 (T378M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604925	NM_001051.5(SSTR3):c.464G>A (p.Arg155His)	SSTR3 (R155H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599494	NM_001051.5(SSTR3):c.1001G>A (p.Arg334His)	SSTR3 (R334H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595016	NM_001051.5(SSTR3):c.889C>G (p.Leu297Val)	SSTR3 (L297V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554591	NM_001051.5(SSTR3):c.245A>G (p.Tyr82Cys)	SSTR3 (Y82C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467029	NM_001051.5(SSTR3):c.415G>A (p.Val139Met)	SSTR3 (V139M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424101	NC_000022.10:g.(?_37154355)_(39148633_?)del	ANKRD54, BAIAP2L2 +50 more	Deletion	Infantile neuroaxonal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	ACO2, ADSL +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2407206	NM_001051.5(SSTR3):c.1235C>T (p.Thr412Met)	SSTR3 (T412M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405931	NM_001051.5(SSTR3):c.712C>T (p.Arg238Cys)	SSTR3 (R238C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381765	NM_001051.5(SSTR3):c.791C>T (p.Ala264Val)	SSTR3 (A264V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367931	NM_001051.5(SSTR3):c.85G>A (p.Gly29Ser)	SSTR3 (G29S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351955	NM_001051.5(SSTR3):c.997C>T (p.Arg333Cys)	SSTR3 (R333C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351272	NM_001051.5(SSTR3):c.92T>A (p.Val31Glu)	SSTR3 (V31E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351271	NM_001051.5(SSTR3):c.629C>T (p.Thr210Met)	SSTR3 (T210M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345332	NM_001051.5(SSTR3):c.739C>T (p.Arg247Trp)	SSTR3 (R247W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343538	NM_001051.5(SSTR3):c.1063G>A (p.Glu355Lys)	SSTR3 (E355K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335473	NM_001051.5(SSTR3):c.1024G>C (p.Val342Leu)	SSTR3 (V342L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328600	NM_001051.5(SSTR3):c.32C>T (p.Thr11Met)	SSTR3 (T11M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326037	NM_001051.5(SSTR3):c.433G>A (p.Val145Met)	SSTR3 (V145M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325232	NM_001051.5(SSTR3):c.523G>T (p.Val175Leu)	SSTR3 (V175L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290113	NM_001051.5(SSTR3):c.374T>C (p.Ile125Thr)	SSTR3 (I125T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239862	NM_001051.5(SSTR3):c.862G>A (p.Glu288Lys)	SSTR3 (E288K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239786	NM_001051.5(SSTR3):c.19T>A (p.Ser7Thr)	SSTR3 (S7T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209882	NM_001051.5(SSTR3):c.133G>A (p.Val45Ile)	SSTR3 (V45I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 443342	GRCh37/hg19 22q12.3-13.1(chr22:35674826-39466442)x3	ANKRD54, APOBEC3A +76 more	Copy number gain	See cases	GLikely pathogenic
Select item 442145	GRCh37/hg19 22q12.3-13.1(chr22:36877226-38548989)x1	ANKRD54, BAIAP2L2 +41 more	Copy number loss	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 221996	GRCh37/hg19 22q12.3-13.1(chr22:35680095-38098981)x1	APOL1, APOL2 +41 more	Copy number loss	See cases	GPathogenic
Select item 221894	GRCh37/hg19 22q12.3-13.1(chr22:37485062-37618530)x3	C1QTNF6, IL2RB +2 more	Copy number gain	Premature ovarian failure	GUncertain significance
Select item 150377	GRCh38/hg38 22q12.3-13.1(chr22:36904830-37555510)x1	C1QTNF6, CARD10 +62 more	Copy number loss	See cases	GUncertain significance
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 57630	GRCh38/hg38 22q12.3-13.1(chr22:36552376-37669915)x1	C1QTNF6, CACNG2 +93 more	Copy number loss	See cases	GPathogenic
Select item 57629	GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1	ANKRD54, APOL1 +293 more	Copy number loss	See cases	GPathogenic
Select item 57423	GRCh38/hg38 22q12.3-13.1(chr22:37124249-37580757)x3	C1QTNF6, CARD10 +51 more	Copy number gain	See cases	GUncertain significance

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: 60