ClinVar for Gene (Select 283870) - ClinVar

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Links from Gene

Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338428	GRCh37/hg19 16p13.3(chr16:2229815-2582030)x4	ABCA3, AMDHD2 +14 more	Copy number gain	Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome	GLikely pathogenic
Select item 3261768	NM_182563.4(BRICD5):c.128C>T (p.Ala43Val)	BRICD5 (A43V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261766	NM_182563.4(BRICD5):c.239A>T (p.Gln80Leu)	BRICD5 (Q80L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261765	NM_182563.4(BRICD5):c.88G>A (p.Val30Met)	BRICD5 (V30M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261764	NM_182563.4(BRICD5):c.269C>T (p.Ala90Val)	BRICD5 (A90V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3261763	NM_182563.4(BRICD5):c.682G>T (p.Asp228Tyr)	BRICD5, MLST8 (D228Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3261762	NM_182563.4(BRICD5):c.641C>T (p.Pro214Leu)	BRICD5, MLST8 (P214L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3243525	NC_000016.9:g.(?_1822222)_(2550959_?)dup	ABCA3, BRICD5 +39 more	Duplication	Caused by mutation in the TBC1 domain family, member 24 +2 more	GUncertain significance
Select item 3243458	NC_000016.9:g.(?_2104449)_(2286921_?)del	BRICD5, CASKIN1 +9 more	Deletion	Tuberous sclerosis 2	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 3135058	NM_182563.4(BRICD5):c.617A>C (p.Tyr206Ser)	BRICD5, MLST8 (Y206S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3135057	NM_182563.4(BRICD5):c.598C>G (p.Arg200Gly)	BRICD5, MLST8 (R200G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3135056	NM_182563.4(BRICD5):c.580C>T (p.Arg194Trp)	BRICD5 (R194W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135055	NM_182563.4(BRICD5):c.533G>A (p.Gly178Glu)	BRICD5 (G178E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135054	NM_182563.4(BRICD5):c.320T>C (p.Leu107Pro)	BRICD5 (L107P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135053	NM_182563.4(BRICD5):c.268G>A (p.Ala90Thr)	BRICD5 (A90T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135052	NM_182563.4(BRICD5):c.128C>A (p.Ala43Asp)	BRICD5 (A43D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135051	NM_182563.4(BRICD5):c.127G>A (p.Ala43Thr)	BRICD5 (A43T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3063473	GRCh37/hg19 16p13.3(chr16:2130809-2285561)x1	BRICD5, CASKIN1 +8 more	Copy number loss	not specified	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 2603882	NM_182563.4(BRICD5):c.220C>A (p.His74Asn)	BRICD5 (H74N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594284	NM_182563.4(BRICD5):c.232C>T (p.Pro78Ser)	BRICD5 (P78S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2516713	NM_182563.4(BRICD5):c.212C>T (p.Pro71Leu)	BRICD5 (P71L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512175	NM_182563.4(BRICD5):c.217C>T (p.Pro73Ser)	BRICD5 (P73S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459872	NM_182563.4(BRICD5):c.263G>A (p.Arg88Gln)	BRICD5 (R88Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2459693	NM_182563.4(BRICD5):c.560G>A (p.Arg187Lys)	BRICD5 (R187K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2458668	NM_182563.4(BRICD5):c.311G>C (p.Trp104Ser)	BRICD5 (W104S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	TIGD7, TMEM204 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 2396022	NM_182563.4(BRICD5):c.416G>A (p.Arg139Gln)	BRICD5 (R139Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2394719	NM_182563.4(BRICD5):c.625A>G (p.Ile209Val)	BRICD5, MLST8 (I209V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2392151	NM_182563.4(BRICD5):c.352C>T (p.Arg118Cys)	BRICD5 (R118C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375164	NM_182563.4(BRICD5):c.250G>A (p.Val84Met)	BRICD5 (V84M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365432	NM_182563.4(BRICD5):c.194C>T (p.Thr65Met)	BRICD5 (T65M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2330581	NM_182563.4(BRICD5):c.403C>T (p.Arg135Trp)	BRICD5 (R135W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323709	NM_182563.4(BRICD5):c.644G>A (p.Ser215Asn)	BRICD5, MLST8 (S215N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2319513	NM_182563.4(BRICD5):c.590A>C (p.Glu197Ala)	BRICD5 (E197A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234405	NM_182563.4(BRICD5):c.203T>C (p.Met68Thr)	BRICD5 (M68T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224757	NM_182563.4(BRICD5):c.28C>T (p.Arg10Cys)	BRICD5 (R10C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215915	NM_182563.4(BRICD5):c.607C>T (p.Arg203Trp)	BRICD5, MLST8 (R203W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1808520	GRCh37/hg19 16p13.3(chr16:1942430-2653144)x3	ABCA3, AMDHD2 +35 more	Copy number gain	not provided	GUncertain significance
Select item 1807728	GRCh37/hg19 16p13.3(chr16:2021144-2266791)x1	BRICD5, CASKIN1 +15 more	Copy number loss	not provided	GPathogenic
Select item 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 1696838	NC_000016.10:g.2066081_2241220del	BRICD5, CASKIN1 +33 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 1696837	NC_000016.10:g.2047157_2220112del	BRICD5, CASKIN1 +28 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 1526483	GRCh37/hg19 16p13.3(chr16:1847662-2653144)	ABCA3, AMDHD2 +38 more	Copy number gain	not specified	GUncertain significance
Select item 1340286	GRCh37/hg19 16p13.3(chr16:1830141-2592737)x3	ABCA3, AMDHD2 +41 more	Copy number gain	not provided	GUncertain significance
Select item 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic
Select item 1010653	NC_000016.9:g.(?_2098597)_(2550979_?)dup	CCNF, DNASE1L2 +16 more	Duplication	Caused by mutation in the TBC1 domain family, member 24 +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 978067	Single allele	BRICD5, CASKIN1 +7 more	Deletion	Autosomal dominant polycystic kidney disease	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 685170	GRCh37/hg19 16p13.3(chr16:2070917-2592737)x3	ABCA3, AMDHD2 +22 more	Copy number gain	not provided	GUncertain significance
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 564257	GRCh37/hg19 16p13.3(chr16:1734363-2285561)x1	BRICD5, CASKIN1 +34 more	Copy number loss	not provided	GPathogenic
Select item 564256	GRCh37/hg19 16p13.3(chr16:1505184-4415346)x3	ABCA3, ADCY9 +103 more	Copy number gain	not provided	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 560100	Single allele	DNASE1L2, E4F1 +16 more	Duplication	not provided	GUncertain significance
Select item 495325	NC_000016.10:g.2077605_2284389dup	ABCA3, BRICD5 +44 more	Duplication	Endometrial carcinoma	GUncertain significance
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 394047	GRCh37/hg19 16p13.3(chr16:2213879-2348394)x3	ABCA3, BRICD5 +8 more	Copy number gain	See cases	GUncertain significance
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 253688	GRCh37/hg19 16p13.3(chr16:2188712-2580690)x4	CEMP1, E4F1 +16 more	Copy number gain	See cases	GUncertain significance
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 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	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 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: 82