ClinVar for Gene (Select 6755) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3322890	NM_001172560.3(SSTR5):c.471G>C (p.Lys157Asn)	SSTR5 (K157N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322889	NM_001172560.3(SSTR5):c.907C>A (p.Leu303Ile)	SSTR5 (L303I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322888	NM_001172560.3(SSTR5):c.883G>A (p.Ala295Thr)	SSTR5 (A295T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322887	NM_001172560.3(SSTR5):c.1006C>T (p.Arg336Cys)	SSTR5 (R336C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322886	NM_001172560.3(SSTR5):c.409C>T (p.Arg137Cys)	SSTR5 (R137C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322885	NM_001172560.3(SSTR5):c.1036G>C (p.Ala346Pro)	SSTR5 (A346P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322884	NM_001172560.3(SSTR5):c.587T>C (p.Leu196Pro)	SSTR5 (L196P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322883	NM_001172560.3(SSTR5):c.116G>A (p.Arg39Gln)	SSTR5 (R39Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322882	NM_001172560.3(SSTR5):c.788C>T (p.Pro263Leu)	SSTR5 (P263L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243622	NC_000016.9:g.(?_256302)_(1557737_?)del	ANTKMT, ARHGDIG +53 more	Deletion	not provided	GPathogenic
Select item 3243338	NC_000016.9:g.(?_396128)_(1204056_?)dup	ANTKMT, AXIN1 +34 more	Duplication	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	Epilepsy +2 more	GUncertain significance
Select item 3170534	NM_001172560.3(SSTR5):c.904G>A (p.Val302Ile)	SSTR5 (V302I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170533	NM_001172560.3(SSTR5):c.76A>C (p.Asn26His)	SSTR5 (N26H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170532	NM_001172560.3(SSTR5):c.701G>A (p.Arg234His)	SSTR5 (R234H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170530	NM_001172560.3(SSTR5):c.677T>C (p.Val226Ala)	SSTR5 (V226A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170529	NM_001172560.3(SSTR5):c.673G>A (p.Val225Met)	SSTR5 (V225M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170528	NM_001172560.3(SSTR5):c.562G>A (p.Ala188Thr)	SSTR5 (A188T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170527	NM_001172560.3(SSTR5):c.431C>T (p.Pro144Leu)	SSTR5 (P144L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170526	NM_001172560.3(SSTR5):c.337C>T (p.Arg113Cys)	SSTR5 (R113C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170525	NM_001172560.3(SSTR5):c.1091T>C (p.Leu364Pro)	SSTR5 (L364P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170524	NM_001172560.3(SSTR5):c.1057G>A (p.Ala353Thr)	SSTR5 (A353T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058147	NM_001172560.3(SSTR5):c.711C>T (p.Cys237=)	SSTR5	Single nucleotide variant (synonymous variant)	SSTR5-related disorder	GLikely benign
Select item 3052332	NM_001172560.3(SSTR5):c.69C>T (p.Gly23=)	SSTR5	Single nucleotide variant (synonymous variant)	SSTR5-related disorder	GLikely benign
Select item 3043767	NM_001172560.3(SSTR5):c.636G>A (p.Ala212=)	SSTR5	Single nucleotide variant (synonymous variant)	SSTR5-related disorder	GBenign
Select item 3035294	NM_001172560.3(SSTR5):c.156G>A (p.Ala52=)	SSTR5	Single nucleotide variant (synonymous variant)	SSTR5-related disorder	GBenign
Select item 2685536	GRCh37/hg19 16p13.3(chr16:85881-1657611)x1	PRR35, ANTKMT +65 more	Copy number loss	not provided	GPathogenic
Select item 2684772	GRCh37/hg19 16p13.3(chr16:1054247-2592737)x3	ABCA3, AMDHD2 +66 more	Copy number gain	not provided	GLikely pathogenic
Select item 2684771	GRCh37/hg19 16p13.3(chr16:898328-1349091)x3	C1QTNF8, CACNA1H +7 more	Copy number gain	not provided	GUncertain significance
Select item 2645875	NM_001172560.3(SSTR5):c.741G>A (p.Thr247=)	SSTR5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2624099	NM_001172560.3(SSTR5):c.25A>G (p.Thr9Ala)	SSTR5 (T9A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617137	NM_001172560.3(SSTR5):c.308C>T (p.Ser103Phe)	SSTR5 (S103F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603865	NM_001172560.3(SSTR5):c.214A>G (p.Lys72Glu)	SSTR5 (K72E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592958	NM_001172560.3(SSTR5):c.550G>A (p.Gly184Ser)	SSTR5 (G184S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589850	NM_001172560.3(SSTR5):c.119C>T (p.Ala40Val)	SSTR5 (A40V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589634	NM_001172560.3(SSTR5):c.104C>T (p.Ser35Leu)	SSTR5 (S35L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563176	NM_001172560.3(SSTR5):c.850G>A (p.Gly284Ser)	SSTR5 (G284S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554592	NM_001172560.3(SSTR5):c.518C>T (p.Pro173Leu)	SSTR5 (P173L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543054	NM_001172560.3(SSTR5):c.220G>A (p.Val74Ile)	SSTR5 (V74I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512240	NM_001172560.3(SSTR5):c.98C>T (p.Ala33Val)	SSTR5 (A33V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498682	GRCh37/hg19 16p13.3(chr16:811896-2130379)x1	BAIAP3, C1QTNF8 +52 more	Copy number loss	not provided	GPathogenic
Select item 2481737	NM_001172560.3(SSTR5):c.857A>G (p.Tyr286Cys)	SSTR5 (Y286C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426664	NC_000016.9:g.(?_256302)_(1843653_?)del	ANTKMT, ARHGDIG +64 more	Deletion	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 2426265	NC_000016.9:g.(?_256302)_(1918176_?)del	ANTKMT, ARHGDIG +67 more	Deletion	not provided	GUncertain significance
Select item 2425969	NC_000016.9:g.(?_256302)_(1657267_?)del	ANTKMT, ARHGDIG +55 more	Deletion	not provided	GPathogenic
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	CAPN15, CCDC154 +170 more	Duplication	Hyperaldosteronism, familial, type IV +3 more	GUncertain significance
Select item 2407095	NM_001172560.3(SSTR5):c.611A>C (p.Tyr204Ser)	SSTR5 (Y204S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404843	NM_001172560.3(SSTR5):c.595G>A (p.Ala199Thr)	SSTR5 (A199T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397322	NM_001172560.3(SSTR5):c.445C>T (p.Arg149Cys)	SSTR5 (R149C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392380	NM_001172560.3(SSTR5):c.808G>A (p.Val270Ile)	SSTR5 (V270I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372907	NM_001172560.3(SSTR5):c.361G>A (p.Val121Ile)	SSTR5 (V121I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2368427	NM_001172560.3(SSTR5):c.913G>A (p.Gly305Ser)	SSTR5 (G305S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366437	NM_001172560.3(SSTR5):c.988G>A (p.Ala330Thr)	SSTR5 (A330T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353937	NM_001172560.3(SSTR5):c.40G>A (p.Ala14Thr)	SSTR5 (A14T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2350745	NM_001172560.3(SSTR5):c.820G>A (p.Val274Met)	SSTR5 (V274M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323451	NM_001172560.3(SSTR5):c.889A>G (p.Ser297Gly)	SSTR5 (S297G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314580	NM_001172560.3(SSTR5):c.598G>A (p.Val200Ile)	SSTR5 (V200I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279458	NM_001172560.3(SSTR5):c.725C>T (p.Ser242Leu)	SSTR5 (S242L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274237	NM_001172560.3(SSTR5):c.817G>T (p.Ala273Ser)	SSTR5 (A273S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272477	NM_001172560.3(SSTR5):c.634G>A (p.Ala212Thr)	SSTR5 (A212T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259494	NM_001172560.3(SSTR5):c.133G>A (p.Val45Met)	SSTR5 (V45M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241168	NM_001172560.3(SSTR5):c.1040C>G (p.Thr347Arg)	SSTR5 (T347R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221295	NM_001172560.3(SSTR5):c.1060G>A (p.Ala354Thr)	SSTR5 (A354T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221022	NM_001172560.3(SSTR5):c.50C>T (p.Pro17Leu)	SSTR5 (P17L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220467	NM_001172560.3(SSTR5):c.743G>A (p.Arg248His)	SSTR5 (R248H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218513	NM_001172560.3(SSTR5):c.461G>A (p.Arg154His)	SSTR5 (R154H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210633	NM_001172560.3(SSTR5):c.50C>G (p.Pro17Arg)	SSTR5 (P17R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204906	NM_001172560.3(SSTR5):c.410G>A (p.Arg137His)	SSTR5 (R137H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808731	GRCh37/hg19 16p13.3(chr16:85881-1350186)x1	ANTKMT, ARHGDIG +53 more	Copy number loss	not provided	GPathogenic
Select item 1808452	GRCh37/hg19 16p13.3(chr16:1129080-2021055)x3	BAIAP3, C1QTNF8 +36 more	Copy number gain	not provided	GUncertain significance
Select item 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 1526481	GRCh37/hg19 16p13.3(chr16:85880-1468828)	ANTKMT, MRPL28 +58 more	Copy number loss	not specified	GPathogenic
Select item 1248656	NM_001172560.3(SSTR5):c.1004C>T (p.Pro335Leu)	SSTR5 (P335L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1224021	NM_001172560.3(SSTR5):c.142C>A (p.Leu48Met)	SSTR5 (L48M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic
Select item 1047658	NC_000016.9:g.(?_765584)_(1204036_?)del	ANTKMT, C1QTNF8 +13 more	Deletion	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 1017417	NC_000016.9:g.(?_624055)_(2153916_?)dup	ANTKMT, WDR90 +71 more	Duplication	Epilepsy +2 more	GUncertain significance
Select item 980573	GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	ABCA3, ADCY9 +188 more	Copy number gain	not provided	GPathogenic
Select item 833344	NC_000016.9:g.(?_624055)_(2550979_?)dup	HS3ST6, IFT140 +86 more	Duplication	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 832709	NC_000016.9:g.(?_624055)_(2148005_?)del	ANTKMT, BAIAP3 +71 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 815769	GRCh37/hg19 16p13.3(chr16:364182-1186480)x3	PRR25, LMF1 +33 more	Copy number gain	not provided	GUncertain significance
Select item 815766	GRCh37/hg19 16p13.3(chr16:85880-1166355)x1	SNRNP25, C1QTNF8 +48 more	Copy number loss	not provided	GPathogenic
Select item 794706	NM_001172560.3(SSTR5):c.294G>A (p.Thr98=)	SSTR5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 790162	NM_001172560.3(SSTR5):c.402C>T (p.Ser134=)	SSTR5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 780013	NM_001172560.3(SSTR5):c.483C>T (p.Ala161=)	SSTR5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778999	NM_001172560.3(SSTR5):c.26C>T (p.Thr9Met)	SSTR5 (T9M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 771482	NM_001172560.3(SSTR5):c.998C>T (p.Thr333Met)	SSTR5 (T333M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 771197	NM_001172560.3(SSTR5):c.321C>T (p.Phe107=)	SSTR5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 733020	NM_001172560.3(SSTR5):c.33C>T (p.Ser11=)	SSTR5	Single nucleotide variant (synonymous variant)	SSTR5-related disorder +1 more	GBenign
Select item 725688	NM_001172560.3(SSTR5):c.441G>A (p.Ser147=)	SSTR5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 716413	NM_001172560.3(SSTR5):c.513G>A (p.Ser171=)	SSTR5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 715675	NM_001172560.3(SSTR5):c.657G>A (p.Leu219=)	SSTR5	Single nucleotide variant (synonymous variant)	SSTR5-related disorder +1 more	GBenign
Select item 708027	NM_001172560.3(SSTR5):c.693G>A (p.Ala231=)	SSTR5	Single nucleotide variant (synonymous variant)	SSTR5-related disorder +1 more	GBenign/Likely benign
Select item 690386	NM_001172560.3(SSTR5):c.293C>T (p.Thr98Met)	SSTR5 (T98M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 688348	GRCh37/hg19 16p13.3(chr16:85880-2053328)x1	ANTKMT, ARHGDIG +89 more	Copy number loss	not provided	GPathogenic
Select item 687623	GRCh37/hg19 16p13.3(chr16:1026478-1134445)x3	LMF1, SOX8 +1 more	Copy number gain	not provided	GUncertain significance
Select item 687431	GRCh37/hg19 16p13.3(chr16:85880-1468459)x1	ANTKMT, ARHGDIG +58 more	Copy number loss	not provided	GPathogenic
Select item 655214	NC_000016.9:g.(?_624055)_(2115656_?)del	SYNGR3, UQCC4 +69 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 625723	GRCh37/hg19 16p13.3(chr16:109978-4316797)	ABCA3, ADCY9 +159 more	Copy number gain	Chromosome 16p13.3 duplication syndrome	GPathogenic
Select item 564254	GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3	ABAT, ABCA3 +206 more	Copy number gain	not provided	GPathogenic

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