28309[HGNC] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 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 58600	GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3	BAIAP3, BRICD5 +162 more	Copy number gain	See cases	GPathogenic
Select item 1696837	NC_000016.10:g.2047157_2220112del	BRICD5, CASKIN1 +28 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 1696838	NC_000016.10:g.2066081_2241220del	BRICD5, CASKIN1 +33 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 495325	NC_000016.10:g.2077605_2284389dup	ABCA3, BRICD5 +44 more	Duplication	Endometrial carcinoma	GUncertain significance
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 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 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 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 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 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 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 2319513	NM_182563.4(BRICD5):c.590A>C (p.Glu197Ala)	BRICD5 (E197A)	Single nucleotide variant (missense variant)	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 2459693	NM_182563.4(BRICD5):c.560G>A (p.Arg187Lys)	BRICD5 (R187K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2396022	NM_182563.4(BRICD5):c.416G>A (p.Arg139Gln)	BRICD5 (R139Q)	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 2392151	NM_182563.4(BRICD5):c.352C>T (p.Arg118Cys)	BRICD5 (R118C)	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 2458668	NM_182563.4(BRICD5):c.311G>C (p.Trp104Ser)	BRICD5 (W104S)	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 3135053	NM_182563.4(BRICD5):c.268G>A (p.Ala90Thr)	BRICD5 (A90T)	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 2375164	NM_182563.4(BRICD5):c.250G>A (p.Val84Met)	BRICD5 (V84M)	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 2594284	NM_182563.4(BRICD5):c.232C>T (p.Pro78Ser)	BRICD5 (P78S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2512175	NM_182563.4(BRICD5):c.217C>T (p.Pro73Ser)	BRICD5 (P73S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2234405	NM_182563.4(BRICD5):c.203T>C (p.Met68Thr)	BRICD5 (M68T)	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 3261768	NM_182563.4(BRICD5):c.128C>T (p.Ala43Val)	BRICD5 (A43V)	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 3261765	NM_182563.4(BRICD5):c.88G>A (p.Val30Met)	BRICD5 (V30M)	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 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 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 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 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	TIGD7, TMEM204 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	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 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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 82