ClinVar for Gene (Select 115939) - ClinVar

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Links from Gene

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3329706	NM_001001410.3(TSR3):c.595C>T (p.Arg199Cys)	TSR3 (R199C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329705	NM_001001410.3(TSR3):c.40G>A (p.Gly14Ser)	LOC130058158, TSR3 (G14S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243667	NC_000016.9:g.(?_1401373)_(1412477_?)del	GNPTG, TSR3	Deletion	not provided	GPathogenic
Select item 3243666	NC_000016.9:g.(?_1398579)_(1402009_?)del	BAIAP3, GNPTG +1 more	Deletion	not provided	GPathogenic
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 3183943	NM_001001410.3(TSR3):c.715G>C (p.Val239Leu)	TSR3 (V239L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183942	NM_001001410.3(TSR3):c.684C>A (p.Ser228Arg)	TSR3 (S228R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183941	NM_001001410.3(TSR3):c.616G>C (p.Ala206Pro)	TSR3 (A206P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183940	NM_001001410.3(TSR3):c.556C>T (p.Arg186Trp)	TSR3 (R186W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183939	NM_001001410.3(TSR3):c.475C>T (p.Pro159Ser)	TSR3 (P159S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183938	NM_001001410.3(TSR3):c.347A>C (p.Gln116Pro)	TSR3 (Q116P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183937	NM_001001410.3(TSR3):c.26G>C (p.Gly9Ala)	LOC130058158, TSR3 (G9A)	Single nucleotide variant (missense variant)	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 2645896	NM_001001410.3(TSR3):c.897G>A (p.Pro299=)	TSR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2623893	NM_001001410.3(TSR3):c.833G>A (p.Gly278Glu)	TSR3 (G278E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605352	NM_001001410.3(TSR3):c.390C>G (p.Asp130Glu)	TSR3 (D130E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593525	NM_001001410.3(TSR3):c.875G>A (p.Arg292Gln)	TSR3 (R292Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2540274	NM_001001410.3(TSR3):c.797C>T (p.Ala266Val)	TSR3 (A266V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539076	NM_001001410.3(TSR3):c.335A>C (p.Gln112Pro)	TSR3 (Q112P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529846	NM_001001410.3(TSR3):c.923A>C (p.Lys308Thr)	TSR3 (K308T)	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 2495491	NM_001001410.3(TSR3):c.7C>A (p.Arg3Ser)	LOC130058158, TSR3 (R3S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491167	NM_001001410.3(TSR3):c.617C>T (p.Ala206Val)	TSR3 (A206V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469352	NM_001001410.3(TSR3):c.626G>A (p.Gly209Asp)	TSR3 (G209D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458167	NM_001001410.3(TSR3):c.401T>C (p.Phe134Ser)	TSR3 (F134S)	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	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 2395070	NM_001001410.3(TSR3):c.46C>T (p.Arg16Cys)	LOC130058158, TSR3 (R16C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387306	NM_001001410.3(TSR3):c.160G>A (p.Ala54Thr)	LOC130058158, TSR3 (A54T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367259	NM_001001410.3(TSR3):c.925C>T (p.Arg309Trp)	TSR3 (R309W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357251	NM_001001410.3(TSR3):c.423C>G (p.His141Gln)	TSR3 (H141Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352609	NM_001001410.3(TSR3):c.466T>C (p.Tyr156His)	TSR3 (Y156H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322724	NM_001001410.3(TSR3):c.478T>G (p.Tyr160Asp)	TSR3 (Y160D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315079	NM_001001410.3(TSR3):c.903G>C (p.Glu301Asp)	TSR3 (E301D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298150	NM_001001410.3(TSR3):c.875G>C (p.Arg292Pro)	TSR3 (R292P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267791	NM_001001410.3(TSR3):c.827G>A (p.Arg276His)	TSR3 (R276H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2220034	NM_001001410.3(TSR3):c.472C>T (p.Arg158Trp)	TSR3 (R158W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1289434	NC_000016.10:g.1351844C>G	LOC130058158, TSR3 +1 more	Single nucleotide variant (5 prime UTR 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 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 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 394840	GRCh37/hg19 16p13.3(chr16:97133-5122974)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
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
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 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 146966	GRCh38/hg38 16p13.3(chr16:1257541-1436509)x1	BAIAP3, CCDC154 +32 more	Copy number loss	See cases	GBenign
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 59425	GRCh38/hg38 16p13.3(chr16:105429-1499893)x1	ANTKMT, ARHGDIG +164 more	Copy number loss	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 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 58602	GRCh38/hg38 16p13.3(chr16:1278821-1919148)x3	MAPK8IP3, MAPK8IP3-AS1 +88 more	Copy number gain	See cases	GPathogenic
Select item 58600	GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3	BAIAP3, BRICD5 +162 more	Copy number gain	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 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	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

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Links from Gene

Items: 91