ClinVar for Gene (Select 8220) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3183971	NM_053006.5(TSSK2):c.98G>A (p.Arg33His)	ESS2, TSSK2 (R33H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3183970	NM_053006.5(TSSK2):c.893A>G (p.Lys298Arg)	ESS2, TSSK2 (K298R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3183969	NM_053006.5(TSSK2):c.881G>A (p.Arg294His)	ESS2, TSSK2 (R294H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3183968	NM_053006.5(TSSK2):c.864G>C (p.Glu288Asp)	ESS2, TSSK2 (E288D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3183967	NM_053006.5(TSSK2):c.479G>A (p.Arg160His)	ESS2, TSSK2 (R160H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3183966	NM_053006.5(TSSK2):c.181A>G (p.Met61Val)	ESS2, TSSK2 (M61V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3183965	NM_053006.5(TSSK2):c.133C>A (p.Arg45Ser)	ESS2, TSSK2 (R45S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3183964	NM_053006.5(TSSK2):c.1037A>G (p.His346Arg)	ESS2, TSSK2 (H346R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3148947	GRCh37/hg19 22q11.21(chr22:18648856-21800471)x1	AIFM3, ARVCF +49 more	Copy number loss	See cases	GPathogenic
Select item 3148946	GRCh37/hg19 22q11.21(chr22:18649190-21800471)x3	AIFM3, ARVCF +49 more	Copy number gain	not provided	GPathogenic
Select item 3148922	GRCh37/hg19 22q11.21(chr22:18919478-21461017)x3	AIFM3, ARVCF +44 more	Copy number gain	not provided	GPathogenic
Select item 3148919	GRCh37/hg19 22q11.21(chr22:18649190-21022258)x3	ARVCF, C22orf39 +37 more	Copy number gain	See cases	GPathogenic
Select item 3148863	GRCh37/hg19 22q11.1-11.21(chr22:16888900-20312661)x3	ADA2, ARVCF +44 more	Copy number gain	not provided	GPathogenic
Select item 3148859	GRCh37/hg19 22q11.21(chr22:18919478-21927646)x3	AIFM3, ARVCF +50 more	Copy number gain	not provided	GPathogenic
Select item 3090616	NM_022719.3(ESS2):c.997A>G (p.Thr333Ala)	ESS2 (T333A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090615	NM_022719.3(ESS2):c.941C>T (p.Pro314Leu)	ESS2 (P314L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090614	NM_022719.3(ESS2):c.922C>T (p.Pro308Ser)	ESS2 (P308S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090613	NM_022719.3(ESS2):c.916C>A (p.Pro306Thr)	ESS2 (P306T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090612	NM_022719.3(ESS2):c.8C>G (p.Thr3Arg)	ESS2 (T3R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090611	NM_022719.3(ESS2):c.811C>T (p.Leu271Phe)	ESS2 (L271F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090610	NM_022719.3(ESS2):c.749G>A (p.Arg250His)	ESS2 (R250H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090609	NM_022719.3(ESS2):c.746C>T (p.Thr249Met)	ESS2 (T249M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090608	NM_022719.3(ESS2):c.617T>C (p.Ile206Thr)	ESS2 (I206T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090607	NM_022719.3(ESS2):c.591A>C (p.Glu197Asp)	ESS2 (E197D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090606	NM_022719.3(ESS2):c.575A>G (p.Gln192Arg)	ESS2 (Q192R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090605	NM_022719.3(ESS2):c.535G>A (p.Ala179Thr)	ESS2 (A179T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090604	NM_022719.3(ESS2):c.529C>T (p.Arg177Cys)	ESS2 (R177C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090603	NM_022719.3(ESS2):c.442C>G (p.Leu148Val)	ESS2 (L148V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090602	NM_022719.3(ESS2):c.399T>A (p.Asp133Glu)	ESS2 (D133E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090601	NM_022719.3(ESS2):c.382G>A (p.Gly128Ser)	ESS2 (G128S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090600	NM_022719.3(ESS2):c.379C>T (p.Arg127Cys)	ESS2 (R127C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090599	NM_022719.3(ESS2):c.365A>G (p.Asn122Ser)	ESS2 (N122S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090598	NM_022719.3(ESS2):c.305A>G (p.Tyr102Cys)	ESS2 (Y102C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090597	NM_022719.3(ESS2):c.29C>G (p.Ser10Cys)	ESS2 (S10C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090596	NM_022719.3(ESS2):c.286C>T (p.Arg96Trp)	ESS2 (R96W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090595	NM_022719.3(ESS2):c.20C>T (p.Ser7Leu)	ESS2 (S7L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090594	NM_022719.3(ESS2):c.170C>T (p.Pro57Leu)	ESS2 (P57L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090593	NM_022719.3(ESS2):c.146C>T (p.Thr49Met)	ESS2 (T49M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090592	NM_022719.3(ESS2):c.1408C>T (p.Arg470Cys)	ESS2 (R470C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090591	NM_022719.3(ESS2):c.1405C>T (p.Arg469Trp)	ESS2 (R469W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090590	NM_022719.3(ESS2):c.1361A>G (p.Gln454Arg)	ESS2 (Q454R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090589	NM_022719.3(ESS2):c.1295C>T (p.Ala432Val)	ESS2 (A432V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090588	NM_022719.3(ESS2):c.1277C>T (p.Thr426Ile)	ESS2 (T426I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090587	NM_022719.3(ESS2):c.1243C>T (p.Arg415Trp)	ESS2 (R415W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090586	NM_022719.3(ESS2):c.1234C>T (p.Arg412Trp)	ESS2 (R412W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090585	NM_022719.3(ESS2):c.1168C>G (p.Leu390Val)	ESS2 (L390V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090584	NM_022719.3(ESS2):c.1142A>G (p.Asn381Ser)	ESS2 (N381S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090583	NM_022719.3(ESS2):c.1006G>C (p.Val336Leu)	ESS2 (V336L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685672	GRCh37/hg19 22q11.1-11.21(chr22:17832142-20945625)x1	RTL10, RTN4R +45 more	Copy number loss	not provided	GPathogenic
Select item 2684928	GRCh37/hg19 22q11.21(chr22:19040482-19203095)x3	CLTCL1, DGCR2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684927	GRCh37/hg19 22q11.21(chr22:18916843-20716903)x3	ARVCF, C22orf39 +30 more	Copy number gain	not provided	GPathogenic
Select item 2672921	GRCh37/hg19 22q11.21(chr22:18893888-21563415)x1	AIFM3, ARVCF +46 more	Copy number loss	not provided	GPathogenic
Select item 2663892	GRCh38/hg38 22q11.21(chr22:18856290-21070117)x3	AIFM3, ARVCF +174 more	Copy number gain	Microcephaly-digital anomalies-intellectual disability syndrome	GPathogenic
Select item 2618729	NM_053006.5(TSSK2):c.632G>A (p.Cys211Tyr)	ESS2, TSSK2 (C211Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2605791	NM_022719.3(ESS2):c.344C>T (p.Ala115Val)	ESS2 (A115V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600163	NM_022719.3(ESS2):c.17C>T (p.Ala6Val)	ESS2 (A6V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599949	NM_053006.5(TSSK2):c.575A>C (p.Tyr192Ser)	ESS2, TSSK2 (Y192S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2590919	NM_022719.3(ESS2):c.524G>A (p.Arg175Gln)	ESS2 (R175Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2580321	GRCh37/hg19 22q11.21(chr22:18893838-20307561)x1	ARVCF, C22orf39 +27 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 2580309	GRCh37/hg19 22q11.21(chr22:18893838-21416074)x3	AIFM3, ARVCF +45 more	Copy number gain	Chromosome 22q11.2 deletion syndrome, distal +1 more	GPathogenic
Select item 2580291	GRCh37/hg19 22q11.21(chr22:18893838-20508931)x3	ARVCF, C22orf39 +30 more	Copy number gain	Chromosome 22q11.2 deletion syndrome, distal	GPathogenic
Select item 2579266	GRCh38/hg38 22q11.21(chr22:18985739-21081116)x1	AIFM3, ARVCF +169 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 2574689	GRCh37/hg19 22q11.21(chr22:18916842-20311810)	ARVCF, C22orf39 +26 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 2574134	NC_000022.11:g.18948676_21110520del	LOC130066999, LOC130067004 +170 more	Deletion	Velocardiofacial syndrome	GPathogenic
Select item 2572172	NC_000022.11:g.18948676_21110520dup	LOC130066967, TSSK2 +170 more	Duplication	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 2571168	GRCh37/hg19 22q11.21(chr22:18893888-21481925)x1	ESS2, GGTLC3 +45 more	Copy number loss	not provided	GPathogenic
Select item 2557175	NM_022719.3(ESS2):c.431C>T (p.Pro144Leu)	ESS2 (P144L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553733	NM_053006.5(TSSK2):c.935A>C (p.Asp312Ala)	ESS2, TSSK2 (D312A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2548412	NM_022719.3(ESS2):c.881G>A (p.Arg294Gln)	ESS2 (R294Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522259	NM_053006.5(TSSK2):c.658G>A (p.Asp220Asn)	ESS2, TSSK2 (D220N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2515534	NM_022719.3(ESS2):c.37C>A (p.Leu13Ile)	ESS2 (L13I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513182	NM_022719.3(ESS2):c.907A>G (p.Thr303Ala)	ESS2 (T303A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511778	NM_022719.3(ESS2):c.460C>T (p.Arg154Cys)	ESS2 (R154C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507821	NM_022719.3(ESS2):c.26C>G (p.Ser9Trp)	ESS2 (S9W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507644	NM_053006.5(TSSK2):c.965G>A (p.Arg322Gln)	TSSK2, ESS2 (R322Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2498202	Single allele	AIFM3, ARVCF +190 more	Deletion	22q11.2 deletion syndrome	GPathogenic
Select item 2496312	NM_022719.3(ESS2):c.534C>A (p.His178Gln)	ESS2 (H178Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488761	NM_022719.3(ESS2):c.1052G>A (p.Arg351His)	ESS2 (R351H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487237	NM_053006.5(TSSK2):c.742C>T (p.Leu248Phe)	ESS2, TSSK2 (L248F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2481982	NM_022719.3(ESS2):c.1003T>C (p.Tyr335His)	ESS2 (Y335H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466169	NM_022719.3(ESS2):c.770G>A (p.Ser257Asn)	ESS2 (S257N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454899	NM_053006.5(TSSK2):c.40G>A (p.Val14Ile)	ESS2, TSSK2 (V14I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2445211	Single allele	ZDHHC8, C22orf39 +45 more	Deletion	See cases	GPathogenic
Select item 2424095	NC_000022.10:g.(?_17565982)_(20052185_?)del	ADA2, ARVCF +35 more	Deletion	Immunodeficiency 51 +1 more	GPathogenic
Select item 2400073	NM_053006.5(TSSK2):c.541T>C (p.Tyr181His)	ESS2, TSSK2 (Y181H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2375257	NM_053006.5(TSSK2):c.280G>A (p.Val94Ile)	ESS2, TSSK2 (V94I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2361584	NM_053006.5(TSSK2):c.866G>C (p.Gly289Ala)	ESS2, TSSK2 (G289A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2319552	NM_053006.5(TSSK2):c.1048G>A (p.Gly350Arg)	ESS2, TSSK2 (G350R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2319331	NM_053006.5(TSSK2):c.187A>G (p.Ile63Val)	ESS2, TSSK2 (I63V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2298454	NM_053006.5(TSSK2):c.965G>T (p.Arg322Leu)	ESS2, TSSK2 (R322L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2284504	NM_053006.5(TSSK2):c.809C>T (p.Ser270Leu)	ESS2, TSSK2 (S270L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2259309	NM_053006.5(TSSK2):c.924C>A (p.Asp308Glu)	ESS2, TSSK2 (D308E)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2242597	NM_053006.5(TSSK2):c.610G>A (p.Val204Met)	ESS2, TSSK2 (V204M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2228879	NM_053006.5(TSSK2):c.424C>G (p.Leu142Val)	ESS2, TSSK2 (L142V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2222229	NM_053006.5(TSSK2):c.197C>A (p.Thr66Asn)	ESS2, TSSK2 (T66N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2222228	NM_053006.5(TSSK2):c.172C>A (p.Pro58Thr)	ESS2, TSSK2 (P58T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2216730	NM_053006.5(TSSK2):c.130G>A (p.Asp44Asn)	ESS2, TSSK2 (D44N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1879567	GRCh37/hg19 22q11.21(chr22:18894078-21414817)x1	AIFM3, ARVCF +45 more	Copy number loss	not provided	GPathogenic
Select item 1879566	GRCh37/hg19 22q11.21(chr22:18893888-21570386)x1	PI4KA, PRODH +46 more	Copy number loss	not provided	GPathogenic
Select item 1879565	GRCh37/hg19 22q11.21(chr22:18834445-21414817)x1	CLDN5, CLTCL1 +45 more	Copy number loss	not provided	GPathogenic

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