ClinVar for Gene (Select 6753) - ClinVar

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Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	APOL2, APOL3 +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

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Links from Gene

Items: 55