ClinVar for Gene (Select 1877) - ClinVar - NCBI

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	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 3274323	NM_004424.5(E4F1):c.376T>C (p.Ser126Pro)	E4F1 (S126P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274322	NM_004424.5(E4F1):c.185G>A (p.Arg62His)	E4F1 (R62H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274321	NM_004424.5(E4F1):c.1483G>A (p.Asp495Asn)	E4F1 (D495N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274320	NM_004424.5(E4F1):c.1466G>A (p.Arg489His)	E4F1 (R489H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274319	NM_004424.5(E4F1):c.2182G>T (p.Ala728Ser)	E4F1 (A551S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3274318	NM_004424.5(E4F1):c.395G>A (p.Ser132Asn)	E4F1 (S132N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274316	NM_004424.5(E4F1):c.1910C>A (p.Ala637Asp)	E4F1 (A637D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274315	NM_004424.5(E4F1):c.437T>A (p.Val146Asp)	E4F1 (V146D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274314	NM_004424.5(E4F1):c.1904T>C (p.Val635Ala)	E4F1 (V458A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274313	NM_004424.5(E4F1):c.1460G>C (p.Arg487Pro)	E4F1 (R487P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274312	NM_004424.5(E4F1):c.2173A>G (p.Met725Val)	E4F1 (M725V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3274311	NM_004424.5(E4F1):c.1897T>C (p.Ser633Pro)	E4F1 (S633P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274310	NM_004424.5(E4F1):c.688C>T (p.Arg230Cys)	E4F1 (R230C)	Single nucleotide variant (missense variant)	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 3086801	NM_004424.5(E4F1):c.949A>G (p.Thr317Ala)	E4F1 (T317A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086800	NM_004424.5(E4F1):c.874G>A (p.Ala292Thr)	E4F1 (A292T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086799	NM_004424.5(E4F1):c.86C>T (p.Ala29Val)	E4F1 (A29V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086798	NM_004424.5(E4F1):c.257C>T (p.Pro86Leu)	E4F1 (P86L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086797	NM_004424.5(E4F1):c.2197G>A (p.Glu733Lys)	E4F1 (E556K +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3086796	NM_004424.5(E4F1):c.2068G>A (p.Val690Met)	E4F1 (V513M +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3086795	NM_004424.5(E4F1):c.1933G>C (p.Glu645Gln)	E4F1 (E645Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086794	NM_004424.5(E4F1):c.1832A>G (p.Glu611Gly)	E4F1 (E611G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086793	NM_004424.5(E4F1):c.1825G>T (p.Val609Leu)	E4F1 (V432L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086792	NM_004424.5(E4F1):c.1784G>T (p.Arg595Leu)	E4F1 (R595L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086791	NM_004424.5(E4F1):c.1660C>T (p.Arg554Cys)	E4F1 (R554C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086790	NM_004424.5(E4F1):c.1637C>T (p.Pro546Leu)	E4F1 (P546L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086789	NM_004424.5(E4F1):c.156A>C (p.Glu52Asp)	E4F1, LOC130058222 (E52D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086788	NM_004424.5(E4F1):c.1217C>G (p.Ala406Gly)	E4F1 (A406G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3086787	NM_004424.5(E4F1):c.1151G>T (p.Arg384Leu)	E4F1 (R384L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086786	NM_004424.5(E4F1):c.111G>C (p.Leu37Phe)	E4F1, LOC130058222 (L37F)	Single nucleotide variant (missense variant)	not specified	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 2646057	NM_004424.5(E4F1):c.1842C>A (p.Pro614=)	E4F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646056	NM_004424.5(E4F1):c.279C>G (p.Thr93=)	E4F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2604721	NM_004424.5(E4F1):c.1978A>T (p.Ile660Phe)	E4F1 (I483F +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2601953	NM_004424.5(E4F1):c.517C>T (p.Leu173Phe)	E4F1 (L173F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570485	NM_004424.5(E4F1):c.937G>C (p.Glu313Gln)	E4F1 (E313Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549344	NM_004424.5(E4F1):c.403T>C (p.Ser135Pro)	E4F1 (S135P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2549210	NM_004424.5(E4F1):c.1403G>T (p.Cys468Phe)	E4F1 (C468F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537714	NM_004424.5(E4F1):c.938A>T (p.Glu313Val)	E4F1 (E313V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511110	NM_004424.5(E4F1):c.1469G>A (p.Arg490His)	E4F1 (R490H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492223	NM_004424.5(E4F1):c.1952C>T (p.Ala651Val)	E4F1 (A651V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480363	NM_004424.5(E4F1):c.1979T>C (p.Ile660Thr)	E4F1 (S643P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478124	NM_004424.5(E4F1):c.1440G>T (p.Lys480Asn)	E4F1 (K480N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472684	NM_004424.5(E4F1):c.371C>T (p.Ala124Val)	E4F1 (A124V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464765	NM_004424.5(E4F1):c.772C>T (p.Arg258Trp)	E4F1 (R258W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460171	NM_004424.5(E4F1):c.1495C>T (p.Leu499Phe)	E4F1 (L499F)	Single nucleotide variant (missense variant +1 more)	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 2409825	NM_004424.5(E4F1):c.1060C>T (p.Pro354Ser)	E4F1 (P354S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407385	NM_004424.5(E4F1):c.1943C>A (p.Ala648Glu)	E4F1 (A471E +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2406452	NM_004424.5(E4F1):c.1865C>T (p.Thr622Met)	E4F1 (T445M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401358	NM_004424.5(E4F1):c.455C>T (p.Ala152Val)	E4F1 (A152V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382518	NM_004424.5(E4F1):c.508G>C (p.Gly170Arg)	E4F1 (G170R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352884	NM_004424.5(E4F1):c.488C>T (p.Pro163Leu)	E4F1 (P163L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331789	NM_004424.5(E4F1):c.159T>A (p.Asp53Glu)	E4F1 (D53E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322390	NM_004424.5(E4F1):c.43G>A (p.Ala15Thr)	E4F1 (A15T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320900	NM_004424.5(E4F1):c.400G>A (p.Ala134Thr)	E4F1 (A134T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2318280	NM_004424.5(E4F1):c.1691G>A (p.Arg564Gln)	E4F1 (R387Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316072	NM_004424.5(E4F1):c.1390G>T (p.Ala464Ser)	E4F1 (A464S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308077	NM_004424.5(E4F1):c.1514A>G (p.His505Arg)	E4F1 (H505R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300505	NM_004424.5(E4F1):c.302G>A (p.Gly101Asp)	E4F1 (G101D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298955	NM_004424.5(E4F1):c.305A>G (p.Gln102Arg)	E4F1 (Q102R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277801	NM_004424.5(E4F1):c.251G>A (p.Arg84Gln)	E4F1 (R84Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271593	NM_004424.5(E4F1):c.1903G>A (p.Val635Met)	E4F1 (V635M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261152	NM_004424.5(E4F1):c.1465C>T (p.Arg489Cys)	E4F1 (R489C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242487	NM_004424.5(E4F1):c.28A>T (p.Thr10Ser)	E4F1, LOC130058221 (T10S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220191	NM_004424.5(E4F1):c.832C>T (p.Arg278Cys)	E4F1 (R278C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210077	NM_004424.5(E4F1):c.293C>G (p.Ala98Gly)	E4F1 (A98G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209056	NM_004424.5(E4F1):c.2099C>T (p.Ala700Val)	E4F1 (A700V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2207383	NM_004424.5(E4F1):c.1753G>A (p.Ala585Thr)	E4F1 (A408T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206481	NM_004424.5(E4F1):c.2089G>A (p.Glu697Lys)	E4F1 (E697K +1 more)	Single nucleotide variant (3 prime UTR variant +1 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 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 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

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