24262[HGNC] - ClinVar

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Items: 90

	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 154001	GRCh38/hg38 16p13.3(chr16:2304443-2676863)x1	ABCA3, AMDHD2 +49 more	Copy number loss	See cases	GUncertain significance
Select item 154402	GRCh38/hg38 16p13.3(chr16:2365461-2764284)x1	AMDHD2, ATP6V0C +58 more	Copy number loss	See cases	GUncertain significance
Select item 150039	GRCh38/hg38 16p13.3(chr16:2365461-2532960)x1	AMDHD2, ATP6V0C +36 more	Copy number loss	See cases	GUncertain significance
Select item 152712	GRCh38/hg38 16p13.3(chr16:2406643-2782411)x1	AMDHD2, ATP6V0C +59 more	Copy number loss	See cases	GLikely pathogenic
Select item 59427	GRCh38/hg38 16p13.3(chr16:2494804-3246579)x1	LOC130058276, LOC130058277 +148 more	Copy number loss	See cases	GPathogenic
Select item 3233449	NM_001694.4(ATP6V0C):c.283G>A (p.Ala95Thr)	AMDHD2, ATP6V0C (A95T)	Single nucleotide variant (missense variant)	Childhood-onset epilepsy syndrome	GLikely pathogenic
Select item 2224463	NM_001330449.2(AMDHD2):c.28G>A (p.Ala10Thr)	AMDHD2 (A10T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309391	NM_001330449.2(AMDHD2):c.29C>T (p.Ala10Val)	AMDHD2 (A10V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616463	NM_001330449.2(AMDHD2):c.31C>T (p.Arg11Cys)	AMDHD2 (R11C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114984	NM_001330449.2(AMDHD2):c.202A>G (p.Ile68Val)	AMDHD2 (I68V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234267	NM_001330449.2(AMDHD2):c.250A>T (p.Thr84Ser)	AMDHD2 (T84S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546834	NM_001330449.2(AMDHD2):c.253G>A (p.Glu85Lys)	AMDHD2 (E85K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310429	NM_001330449.2(AMDHD2):c.286C>T (p.Arg96Trp)	AMDHD2 (R96W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600870	NM_001330449.2(AMDHD2):c.326C>T (p.Thr109Ile)	AMDHD2 (T109I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522551	NM_001330449.2(AMDHD2):c.403G>T (p.Ala135Ser)	AMDHD2 (A135S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593183	NM_001330449.2(AMDHD2):c.446G>A (p.Arg149Gln)	AMDHD2 (R149Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115028	NM_001330449.2(AMDHD2):c.469G>A (p.Glu157Lys)	AMDHD2 (E157K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554695	NM_001330449.2(AMDHD2):c.485C>T (p.Ser162Phe)	AMDHD2 (S162F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646064	NM_001330449.2(AMDHD2):c.556C>T (p.Leu186=)	AMDHD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3292419	NM_001330449.2(AMDHD2):c.617G>C (p.Cys206Ser)	AMDHD2 (C206S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528765	NM_001330449.2(AMDHD2):c.727C>T (p.Arg243Cys)	AMDHD2 (R243C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259512	NM_001330449.2(AMDHD2):c.847C>T (p.Arg283Cys)	AMDHD2 (R283C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292410	NM_001330449.2(AMDHD2):c.874G>A (p.Val292Ile)	AMDHD2 (V292I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619226	NM_001330449.2(AMDHD2):c.908A>G (p.Asn303Ser)	AMDHD2 (N303S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115047	NM_001330449.2(AMDHD2):c.970+7G>A	AMDHD2 (R326H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243832	NM_001330449.2(AMDHD2):c.971-34G>A	AMDHD2 (D343N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221993	NM_001330449.2(AMDHD2):c.1000C>G (p.Pro334Ala)	AMDHD2 (P334A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250859	NM_001330449.2(AMDHD2):c.1037C>G (p.Thr346Arg)	AMDHD2 (T346R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292429	NM_001330449.2(AMDHD2):c.1159G>A (p.Asp387Asn)	AMDHD2 (D387N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208120	NM_001330449.2(AMDHD2):c.1189T>G (p.Ser397Ala)	AMDHD2 (S374A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246734	NM_001330449.2(AMDHD2):c.*719C>G	AMDHD2, CEMP1 (D436E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142220	NM_001048212.3(CEMP1):c.695G>T (p.Cys232Phe)	AMDHD2, CEMP1 (C232F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374541	NM_001330449.2(AMDHD2):c.*967C>G	AMDHD2, CEMP1 (T519S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265850	NM_001048212.3(CEMP1):c.509G>A (p.Gly170Glu)	AMDHD2, CEMP1 (P531S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241798	NM_001048212.3(CEMP1):c.483G>T (p.Arg161Ser)	AMDHD2, CEMP1 (R161S)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3142219	NM_001048212.3(CEMP1):c.466G>A (p.Val156Ile)	AMDHD2, CEMP1 (V156I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2614303	NM_001048212.3(CEMP1):c.463C>A (p.Arg155Ser)	AMDHD2, CEMP1 (R155S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213474	NM_001048212.3(CEMP1):c.458C>T (p.Ala153Val)	AMDHD2, CEMP1 (A153V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596515	NM_001048212.3(CEMP1):c.432G>C (p.Gln144His)	AMDHD2, CEMP1 (Q144H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142218	NM_001048212.3(CEMP1):c.399G>C (p.Trp133Cys)	AMDHD2, CEMP1 (W133C)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2298382	NM_001048212.3(CEMP1):c.365C>T (p.Pro122Leu)	AMDHD2, CEMP1 (G579R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265851	NM_001048212.3(CEMP1):c.353G>A (p.Gly118Asp)	AMDHD2, CEMP1 (P583S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142217	NM_001048212.3(CEMP1):c.281G>A (p.Arg94Lys)	AMDHD2, CEMP1 (R94K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2334278	NM_001048212.3(CEMP1):c.263C>T (p.Pro88Leu)	AMDHD2, CEMP1 (P88L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2396864	NM_001048212.3(CEMP1):c.238C>T (p.Arg80Cys)	AMDHD2, CEMP1 (R80C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2270609	NM_001048212.3(CEMP1):c.185C>T (p.Ala62Val)	AMDHD2, CEMP1 (A62V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2367646	NM_001048212.3(CEMP1):c.173C>T (p.Ala58Val)	AMDHD2, CEMP1 (A58V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2520864	NM_001048212.3(CEMP1):c.172G>A (p.Ala58Thr)	AMDHD2, CEMP1 (A58T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2317258	NM_001048212.3(CEMP1):c.104C>G (p.Pro35Arg)	AMDHD2, CEMP1 (P35R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2394508	NM_001048212.3(CEMP1):c.53C>T (p.Thr18Ile)	AMDHD2, CEMP1 (T18I)	Single nucleotide variant (3 prime UTR variant +1 more)	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 3243524	NC_000016.9:g.(?_2550259)_(3154076_?)del	AMDHD2, ATP6V0C +26 more	Deletion	Caused by mutation in the TBC1 domain family, member 24 +2 more	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 2685540	GRCh37/hg19 16p13.3(chr16:2480793-2590012)x1	AMDHD2, ATP6V0C +6 more	Copy number loss	not provided	GLikely pathogenic
Select item 2684772	GRCh37/hg19 16p13.3(chr16:1054247-2592737)x3	ABCA3, AMDHD2 +66 more	Copy number gain	not provided	GLikely pathogenic
Select item 2498683	GRCh37/hg19 16p13.3(chr16:2564105-2647768)x1	AMDHD2, ATP6V0C +2 more	Copy number loss	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 1808520	GRCh37/hg19 16p13.3(chr16:1942430-2653144)x3	ABCA3, AMDHD2 +35 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 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 980573	GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	ABCA3, ADCY9 +188 more	Copy number gain	not provided	GPathogenic
Select item 688711	GRCh37/hg19 16p13.3(chr16:2527176-2581549)x1	AMDHD2, ATP6V0C +2 more	Copy number loss	not provided	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 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 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 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

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Items: 90