30629[HGNC] - ClinVar

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Items: 91

	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 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 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 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 58602	GRCh38/hg38 16p13.3(chr16:1278821-1919148)x3	MAPK8IP3, MAPK8IP3-AS1 +88 more	Copy number gain	See cases	GPathogenic
Select item 152596	GRCh38/hg38 16p13.3(chr16:1754785-1816283)x1	EME2, HAGH +19 more	Copy number loss	See cases	GBenign
Select item 3322395	NM_080861.4(SPSB3):c.1061G>A (p.Arg354Gln)	EME2, SPSB3 (R354Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2275771	NM_080861.4(SPSB3):c.1057C>G (p.Arg353Gly)	EME2, SPSB3 (R353G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2465546	NM_080861.4(SPSB3):c.1031C>T (p.Pro344Leu)	EME2, SPSB3 (P344L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2381066	NM_080861.4(SPSB3):c.1024C>G (p.Arg342Gly)	EME2, SPSB3 (R342G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2397374	NM_080861.4(SPSB3):c.1009G>A (p.Ala337Thr)	EME2, SPSB3 (A337T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2209936	NM_080861.4(SPSB3):c.1001C>T (p.Ala334Val)	EME2, SPSB3 (A334V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2208427	NM_080861.4(SPSB3):c.986C>G (p.Ser329Cys)	EME2, SPSB3 (S329C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2483842	NM_080861.4(SPSB3):c.970C>G (p.Arg324Gly)	EME2, SPSB3 (R324G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3169447	NM_080861.4(SPSB3):c.968G>A (p.Arg323His)	EME2, SPSB3 (R323H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 736496	NM_080861.4(SPSB3):c.906G>A (p.Pro302=)	EME2, SPSB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3322397	NM_080861.4(SPSB3):c.892G>A (p.Gly298Ser)	EME2, SPSB3 (G298S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2548155	NM_080861.4(SPSB3):c.875C>T (p.Ser292Leu)	EME2, SPSB3 (S292L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2263471	NM_080861.4(SPSB3):c.865C>T (p.Arg289Trp)	EME2, SPSB3 (R289W)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2509138	NM_080861.4(SPSB3):c.820G>T (p.Ala274Ser)	EME2, SPSB3 (A274S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2259962	NM_080861.4(SPSB3):c.806G>A (p.Arg269His)	EME2, SPSB3 (R269H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2569020	NM_080861.4(SPSB3):c.761C>T (p.Pro254Leu)	EME2, SPSB3 (P254L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3169445	NM_080861.4(SPSB3):c.750G>C (p.Lys250Asn)	EME2, SPSB3 (K250N)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3322396	NM_080861.4(SPSB3):c.720A>G (p.Ile240Met)	EME2, SPSB3 (I240M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2339341	NM_080861.4(SPSB3):c.652T>A (p.Ser218Thr)	EME2, SPSB3 (S218T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2217331	NM_080861.4(SPSB3):c.643G>A (p.Gly215Ser)	EME2, SPSB3 (G215S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2300856	NM_080861.4(SPSB3):c.616G>C (p.Asp206His)	EME2, SPSB3 (D206H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3169444	NM_080861.4(SPSB3):c.542C>T (p.Thr181Met)	EME2, SPSB3 (T181M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3169443	NM_080861.4(SPSB3):c.536G>A (p.Arg179His)	EME2, SPSB3 (R179H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2248518	NM_080861.4(SPSB3):c.520G>A (p.Asp174Asn)	EME2, SPSB3 (D174N)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 735444	NM_080861.4(SPSB3):c.519G>A (p.Val173=)	EME2, SPSB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3169442	NM_080861.4(SPSB3):c.465G>A (p.Met155Ile)	EME2, SPSB3 (M155I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3169441	NM_080861.4(SPSB3):c.463A>G (p.Met155Val)	EME2, SPSB3 (M155V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3169440	NM_080861.4(SPSB3):c.359G>A (p.Cys120Tyr)	EME2, SPSB3 (C120Y)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 780014	NM_080861.4(SPSB3):c.345C>T (p.Ala115=)	EME2, SPSB3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2373336	NM_080861.4(SPSB3):c.284G>A (p.Arg95His)	EME2, SPSB3 (R95H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2308931	NM_080861.4(SPSB3):c.245G>A (p.Cys82Tyr)	EME2, SPSB3 (C82Y)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3169439	NM_080861.4(SPSB3):c.218G>C (p.Cys73Ser)	EME2, SPSB3 (C73S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2462334	NM_080861.4(SPSB3):c.197C>G (p.Thr66Ser)	EME2, SPSB3 (T66S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2393087	NM_080861.4(SPSB3):c.179C>T (p.Pro60Leu)	EME2, SPSB3 (P60L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2542317	NM_080861.4(SPSB3):c.137C>G (p.Ser46Trp)	EME2, SPSB3 (S46W)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2481339	NM_080861.4(SPSB3):c.64G>A (p.Ala22Thr)	EME2, SPSB3 (A22T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2602213	NM_080861.4(SPSB3):c.58C>G (p.Arg20Gly)	EME2, SPSB3 (R20G)	Single nucleotide variant (3 prime UTR variant +1 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 3243466	NC_000016.9:g.(?_1607916)_(2130398_?)dup	CRAMP1, EME2 +27 more	Duplication	Tuberous sclerosis 2	GUncertain significance
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 2684773	GRCh37/hg19 16p13.3(chr16:1505227-1960381)x3	CLCN7, CRAMP1 +15 more	Copy number gain	not provided	GUncertain significance
Select item 2684772	GRCh37/hg19 16p13.3(chr16:1054247-2592737)x3	ABCA3, AMDHD2 +66 more	Copy number gain	not provided	GLikely pathogenic
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 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	TIGD7, TMEM204 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	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 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 1017417	NC_000016.9:g.(?_624055)_(2153916_?)dup	CCDC78, ANTKMT +71 more	Duplication	Epilepsy +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 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 831814	NC_000016.10:g.(?_1523498)_(2064447_?)del	MAPK8IP3, MEIOB +28 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 689437	Single allele	CRAMP1, EME2 +28 more	Inversion	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 688348	GRCh37/hg19 16p13.3(chr16:85880-2053328)x1	ANTKMT, ARHGDIG +89 more	Copy number loss	not provided	GPathogenic
Select item 685169	GRCh37/hg19 16p13.3(chr16:1727095-1947413)x3	CRAMP1, EME2 +10 more	Copy number gain	not provided	GUncertain significance
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 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 564252	GRCh37/hg19 16p13.3(chr16:85880-1875694)x1	PDIA2, POLR3K +75 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 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: 91