TPSB2[gene] - ClinVar

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Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59410	GRCh38/hg38 16p13.3(chr16:23141-1712523)x1	ANTKMT, ARHGDIG +194 more	Copy number loss	See cases	GPathogenic
Select item 59409	GRCh38/hg38 16p13.3(chr16:23141-1773349)x1	ANTKMT, ARHGDIG +210 more	Copy number loss	See cases	GPathogenic
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 148760	GRCh38/hg38 16p13.3(chr16:46722-1867327)x1	ANTKMT, ARHGDIG +224 more	Copy number loss	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 145576	GRCh38/hg38 16p13.3(chr16:46766-1544014)x1	ANTKMT, ARHGDIG +179 more	Copy number loss	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 59411	GRCh38/hg38 16p13.3(chr16:46766-1997582)x1	ANTKMT, ARHGDIG +253 more	Copy number loss	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 59425	GRCh38/hg38 16p13.3(chr16:105429-1499893)x1	ANTKMT, ARHGDIG +164 more	Copy number loss	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 154391	GRCh38/hg38 16p13.3(chr16:925267-1324901)x3	C1QTNF8, CACNA1H +27 more	Copy number gain	See cases	GUncertain significance
Select item 58600	GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3	BAIAP3, BRICD5 +162 more	Copy number gain	See cases	GPathogenic
Select item 3328348	NM_024164.6(TPSB2):c.718G>A (p.Gly240Ser)	TPSB2 (G240S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645884	NM_024164.6(TPSB2):c.716C>T (p.Ala239Val)	TPSB2 (A239V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2645885	NM_024164.6(TPSB2):c.666C>T (p.Gly222=)	TPSB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2409465	NM_024164.6(TPSB2):c.397G>A (p.Val133Ile)	TPSB2 (V133I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2346351	NM_024164.6(TPSB2):c.376G>C (p.Glu126Gln)	TPSB2 (E126Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2359904	NM_024164.6(TPSB2):c.367G>A (p.Ala123Thr)	TPSB2 (A123T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181660	NM_024164.6(TPSB2):c.359C>T (p.Ala120Val)	TPSB2 (A120V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181659	NM_024164.6(TPSB2):c.325G>A (p.Val109Met)	TPSB2 (V109M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338143	NM_024164.6(TPSB2):c.261G>C (p.Arg87Ser)	TPSB2 (R87S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645886	NM_024164.6(TPSB2):c.255C>T (p.Ala85=)	TPSB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2296734	NM_024164.6(TPSB2):c.247C>G (p.Leu83Val)	TPSB2 (L83V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493696	NM_024164.6(TPSB2):c.242A>G (p.Lys81Arg)	TPSB2 (K81R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 403561	NM_024164.6(TPSB2):c.226G>C (p.Val76Leu)	TPSB2 (V76L)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 2225276	NM_024164.6(TPSB2):c.178G>T (p.Gly60Trp)	TPSB2 (G60W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546605	NM_024164.6(TPSB2):c.172T>A (p.Phe58Ile)	TPSB2 (F58I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289098	NM_024164.6(TPSB2):c.151C>T (p.Arg51Cys)	TPSB2 (R51C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556706	NM_024164.6(TPSB2):c.130T>C (p.Trp44Arg)	TPSB2 (W44R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 403562	NM_024164.6(TPSB2):c.68G>T (p.Gly23Val)	TPSB2 (G23V)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 2358816	NM_024164.6(TPSB2):c.64C>A (p.Pro22Thr)	TPSB2 (P22T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181661	NM_024164.6(TPSB2):c.43C>T (p.Arg15Cys)	TPSB2 (R15C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468067	NM_024164.6(TPSB2):c.41G>A (p.Ser14Asn)	TPSB2 (S14N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296940	NM_024164.6(TPSB2):c.38C>T (p.Ala13Val)	TPSB2 (A13V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3181658	NM_024164.6(TPSB2):c.31G>A (p.Val11Ile)	TPSB2 (V11I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323060	NM_024164.6(TPSB2):c.23C>A (p.Ala8Glu)	TPSB2 (A8E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243622	NC_000016.9:g.(?_256302)_(1557737_?)del	TELO2, STUB1 +53 more	Deletion	not provided	GPathogenic
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 3063465	GRCh37/hg19 16p13.3(chr16:1252411-1297707)x1	CACNA1H, TPSAB1 +2 more	Copy number loss	not specified	GUncertain significance
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 2498682	GRCh37/hg19 16p13.3(chr16:811896-2130379)x1	BAIAP3, C1QTNF8 +52 more	Copy number loss	not provided	GPathogenic
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	C1QTNF8, CACNA1H +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	TIGD7, TMEM204 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	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 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic
Select item 1017417	NC_000016.9:g.(?_624055)_(2153916_?)dup	CCDC78, ANTKMT +71 more	Duplication	Epilepsy +2 more	GUncertain significance
Select item 980584	GRCh37/hg19 16p13.3(chr16:1233996-1509217)x3	TPSG1, BAIAP3 +11 more	Copy number gain	not provided	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 833445	NC_000016.9:g.(?_1203718)_(2185710_?)del	EME2, FAHD1 +45 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 833344	NC_000016.9:g.(?_624055)_(2550979_?)dup	IGFALS, MRPS34 +86 more	Duplication	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 832709	NC_000016.9:g.(?_624055)_(2148005_?)del	CCDC78, CHTF18 +71 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 688348	GRCh37/hg19 16p13.3(chr16:85880-2053328)x1	ANTKMT, ARHGDIG +89 more	Copy number loss	not provided	GPathogenic
Select item 687624	GRCh37/hg19 16p13.3(chr16:1134638-1295079)x4	C1QTNF8, CACNA1H +3 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	ANTKMT, BAIAP3 +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
Select item 564253	GRCh37/hg19 16p13.3(chr16:85880-3216551)x3	ABCA3, AMDHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 564252	GRCh37/hg19 16p13.3(chr16:85880-1875694)x1	PDIA2, POLR3K +75 more	Copy number loss	not provided	GPathogenic
Select item 564251	GRCh37/hg19 16p13.3(chr16:85880-1498731)x1	PGAP6, TSR3 +61 more	Copy number loss	not provided	GPathogenic
Select item 443477	GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3	ABAT, ABCA3 +198 more	Copy number gain	See cases	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 441740	GRCh37/hg19 16p13.3(chr16:643377-3125125)x3	ABCA3, AMDHD2 +111 more	Copy number gain	See cases	GUncertain significance
Select item 395719	GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448)	CLDN6, CLDN9 +196 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 395296	GRCh37/hg19 16p13.3(chr16:1278591-1306880)x3	TPSAB1, TPSB2 +1 more	Copy number gain	See cases	GBenign
Select item 394840	GRCh37/hg19 16p13.3(chr16:97133-5122974)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 394767	GRCh37/hg19 16p13.3(chr16:1278591-1306279)x3	TPSAB1, TPSB2 +1 more	Copy number gain	See cases	GBenign
Select item 393866	GRCh37/hg19 16p13.3(chr16:1279620-1306279)x3	TPSAB1, TPSB2 +1 more	Copy number gain	See cases	GBenign/Likely benign
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 253622	GRCh37/hg19 16p13.3(chr16:72769-1511716)x1	CCDC154, CCDC78 +61 more	Copy number loss	See cases	GPathogenic
Select item 252979	GRCh37/hg19 16p13.3(chr16:88165-1715454)x1	ANTKMT, ARHGDIG +66 more	Copy number loss	See cases	GPathogenic
Select item 221511	GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3	AMDHD2, ANKS3 +202 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic

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Items: 88