NKAIN4[gene] - ClinVar

Search results

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	LOC130066385, LOC130066386 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	LOC130066289, LOC130066290 +491 more	Copy number gain	See cases	GPathogenic
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066383, LOC130066384 +464 more	Copy number gain	See cases	GPathogenic
Select item 146530	GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3	LOC130066362, LOC130066363 +355 more	Copy number gain	See cases	GPathogenic
Select item 150212	GRCh38/hg38 20q13.33(chr20:61326549-64277326)x3	ABHD16B, ADRM1 +312 more	Copy number gain	See cases	GPathogenic
Select item 1707464	Single allele	ADRM1, ARFGAP1 +198 more	Duplication	not specified	GUncertain significance
Select item 58974	GRCh38/hg38 20q13.33(chr20:62455231-63839491)x1	LOC130066313, LOC130066314 +183 more	Copy number loss	See cases	GPathogenic
Select item 58975	GRCh38/hg38 20q13.33(chr20:62545370-64241486)x1	ABHD16B, ARFGAP1 +249 more	Copy number loss	See cases	GPathogenic
Select item 144360	GRCh38/hg38 20q13.33(chr20:62561794-64277321)x1	ABHD16B, ARFGAP1 +248 more	Copy number loss	See cases	GPathogenic
Select item 153305	GRCh38/hg38 20q13.33(chr20:62582073-64284202)x1	LOC130066412, LOC130066413 +244 more	Copy number loss	See cases	GPathogenic
Select item 2579288	GRCh38/hg38 20q13.33(chr20:62632017-63794804)x1	ARFGAP1, ARFRP1 +165 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 153207	GRCh38/hg38 20q13.33(chr20:62663307-64284202)x1	ABHD16B, ARFGAP1 +230 more	Copy number loss	See cases	GPathogenic
Select item 1696472	Single allele	ARFGAP1, BHLHE23 +102 more	Duplication	not provided	GUncertain significance
Select item 58977	GRCh38/hg38 20q13.33(chr20:63095686-63524980)x1	ARFGAP1, BIRC7 +37 more	Copy number loss	See cases	GPathogenic
Select item 148310	GRCh38/hg38 20q13.33(chr20:63153963-64277321)x1	RGS19, RTEL1 +181 more	Copy number loss	See cases	GPathogenic
Select item 160985	GRCh38/hg38 20q13.33(chr20:63199020-64277321)x3	ABHD16B, ARFGAP1 +177 more	Copy number gain	See cases	GPathogenic
Select item 146197	GRCh38/hg38 20q13.33(chr20:63199020-64277321)x1	ABHD16B, ARFGAP1 +177 more	Copy number loss	See cases	GLikely pathogenic
Select item 221549	GRCh38/hg38 20q13.33(chr20:63239482-63415015)x1	ARFGAP1, BIRC7 +15 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 2468679	NM_152864.4(NKAIN4):c.623C>T (p.Ala208Val)	NKAIN4 (A146V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553699	NM_152864.4(NKAIN4):c.542T>C (p.Ile181Thr)	NKAIN4 (I181T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560781	NM_152864.4(NKAIN4):c.515C>T (p.Thr172Met)	NKAIN4 (T110M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200257	NM_152864.4(NKAIN4):c.507C>A (p.Ser169Arg)	NKAIN4 (S107R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316704	NM_152864.4(NKAIN4):c.488G>C (p.Cys163Ser)	NKAIN4 (C163S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200256	NM_152864.4(NKAIN4):c.458A>G (p.Gln153Arg)	NKAIN4 (Q91R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488777	NM_152864.4(NKAIN4):c.448A>G (p.Ser150Gly)	NKAIN4 (S150G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602873	NM_152864.4(NKAIN4):c.419T>C (p.Leu140Pro)	NKAIN4 (L78P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529801	NM_152864.4(NKAIN4):c.394C>G (p.Leu132Val)	NKAIN4 (L70V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299855	NM_152864.4(NKAIN4):c.379C>T (p.Pro127Ser)	NKAIN4 (P127S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355653	NM_152864.4(NKAIN4):c.377C>A (p.Ala126Asp)	NKAIN4 (A126D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319607	NM_152864.4(NKAIN4):c.373G>A (p.Gly125Arg)	NKAIN4 (G125R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599702	NM_152864.4(NKAIN4):c.329G>A (p.Arg110His)	NKAIN4 (R110H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2244754	NM_152864.4(NKAIN4):c.327G>T (p.Glu109Asp)	NKAIN4 (E109D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299854	NM_152864.4(NKAIN4):c.316T>A (p.Trp106Arg)	NKAIN4 (W106R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200255	NM_152864.4(NKAIN4):c.311G>A (p.Arg104His)	NKAIN4 (R104H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353912	NM_152864.4(NKAIN4):c.274G>A (p.Asp92Asn)	NKAIN4 (D30N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352625	NM_152864.4(NKAIN4):c.235A>G (p.Ile79Val)	NKAIN4 (I17V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358163	NM_152864.4(NKAIN4):c.233T>C (p.Phe78Ser)	NKAIN4 (F16S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200254	NM_152864.4(NKAIN4):c.211G>A (p.Val71Ile)	NKAIN4 (V71I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3200253	NM_152864.4(NKAIN4):c.184G>A (p.Val62Ile)	NKAIN4 (V62I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3200252	NM_152864.4(NKAIN4):c.179G>A (p.Arg60His)	NKAIN4 (R60H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2333995	NM_152864.4(NKAIN4):c.178C>T (p.Arg60Cys)	NKAIN4 (R60C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2344777	NM_152864.4(NKAIN4):c.173G>A (p.Arg58Gln)	NKAIN4 (R58Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2346327	NM_152864.4(NKAIN4):c.116C>A (p.Ala39Asp)	NKAIN4 (A39D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3200251	NM_152864.4(NKAIN4):c.14C>G (p.Ser5Cys)	FLJ16779, NKAIN4 (S5C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2610012	NM_152864.4(NKAIN4):c.7T>C (p.Ser3Pro)	FLJ16779, NKAIN4 (S3P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3248249	NC_000020.10:g.(?_60831241)_(62051045_?)dup	ADRM1, ARFGAP1 +27 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3062407	GRCh37/hg19 20q13.33(chr20:61716119-62416074)x1	ARFGAP1, ARFRP1 +22 more	Copy number loss	not specified	GPathogenic
Select item 3062402	GRCh37/hg19 20q13.33(chr20:61421505-62070966)x1	ARFGAP1, BHLHE23 +15 more	Copy number loss	not specified	GPathogenic
Select item 2672055	GRCh37/hg19 20q13.33(chr20:61704244-62169893)x3	ARFGAP1, BIRC7 +13 more	Copy number gain	See cases	GUncertain significance
Select item 2580344	GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3	ABHD16B, ADRM1 +113 more	Copy number gain	See cases	GUncertain significance
Select item 2427488	NC_000020.10:g.(?_61471874)_(62078210_?)del	ARFGAP1, BHLHE23 +13 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 2424333	NC_000020.10:g.(?_60831241)_(62680869_?)dup	ABHD16B, ADRM1 +50 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 1808258	GRCh37/hg19 20q13.33(chr20:60621074-62915555)x3	ABHD16B, ADRM1 +63 more	Copy number gain	not provided	GUncertain significance
Select item 1526700	GRCh37/hg19 20q13.33(chr20:61797521-62318983)	ARFGAP1, BIRC7 +14 more	Copy number loss	not specified	GPathogenic
Select item 1526699	GRCh37/hg19 20q13.33(chr20:61619222-62915555)	ABHD16B, ARFGAP1 +38 more	Copy number loss	not specified	GPathogenic
Select item 1526698	GRCh37/hg19 20q13.33(chr20:61003263-62915555)	ABHD16B, ARFGAP1 +51 more	Copy number loss	not specified	GPathogenic
Select item 1526695	GRCh37/hg19 20q13.33(chr20:60473339-62915555)	OGFR, OPRL1 +64 more	Copy number gain	not specified	GUncertain significance
Select item 1526694	GRCh37/hg19 20q13.32-13.33(chr20:56835739-62915555)	LAMA5, LIME1 +88 more	Copy number gain	not specified	GPathogenic
Select item 1409926	NC_000020.10:g.(?_61448417)_(62124660_?)del	ARFGAP1, BHLHE23 +14 more	Deletion	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GUncertain significance
Select item 1341217	GRCh37/hg19 20q13.33(chr20:61634256-61975378)x1	ARFGAP1, BHLHE23 +7 more	Copy number loss	not provided	GUncertain significance
Select item 1340670	GRCh37/hg19 20q13.33(chr20:61775756-62915555)x1	ABHD16B, ARFGAP1 +35 more	Copy number loss	not provided	GPathogenic
Select item 1340573	GRCh37/hg19 20q13.33(chr20:61673691-62230974)x3	ARFGAP1, BIRC7 +14 more	Copy number gain	not provided	GUncertain significance
Select item 1330184	GRCh37/hg19 20q13.33(chr20:61828010-62324686)x1	ARFGAP1, BIRC7 +14 more	Copy number loss	Developmental and epileptic encephalopathy, 2	GPathogenic
Select item 1326336	GRCh37/hg19 20q13.33(chr20:61038552-62907579)	HELZ2, DIDO1 +51 more	Copy number loss	Seizures, benign familial neonatal, 1 +1 more	GLikely pathogenic
Select item 1326335	GRCh37/hg19 20q13.33(chr20:61273854-62907579)	PCMTD2, SAMD10 +47 more	Copy number loss	Seizures, benign familial neonatal, 1 +1 more	GLikely pathogenic
Select item 1326334	GRCh37/hg19 20q13.33(chr20:61041481-62680992)	NKAIN4, COL20A1 +44 more	Copy number loss	Seizures, benign familial neonatal, 1 +1 more	GLikely pathogenic
Select item 1326329	GRCh37/hg19 20q13.33(chr20:61826780-62660844)	UCKL1, ZGPAT +27 more	Copy number loss	Seizures, benign familial neonatal, 1 +1 more	GLikely pathogenic
Select item 1180535	GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3	GATA5, ZBTB46 +116 more	Copy number gain	not provided	GPathogenic
Select item 1047899	GRCh37/hg19 20q13.33(chr20:61510452-62315381)	ARFGAP1, BHLHE23 +20 more	Copy number loss	Epileptic spasm	GPathogenic
Select item 999459	NC_000020.10:g.(?_60831241)_(62664346_?)dup	MIR1-1, MIR1-1HG +49 more	Duplication	Developmental and epileptic encephalopathy, 33 +1 more	GUncertain significance
Select item 979743	GRCh37/hg19 20q13.33(chr20:61507440-62318983)x3	CHRNA4, STMN3 +20 more	Copy number gain	not provided	GUncertain significance
Select item 979742	GRCh37/hg19 20q13.33(chr20:61884113-62234685)x3	GMEB2, KCNQ2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 816137	GRCh37/hg19 20q13.33(chr20:61152321-62915555)x1	ABHD16B, ARFGAP1 +49 more	Copy number loss	not provided	GPathogenic
Select item 816132	GRCh37/hg19 20q13.32-13.33(chr20:56788101-62762405)x3	BHLHE23, ZGPAT +87 more	Copy number gain	not provided	GPathogenic
Select item 816131	GRCh37/hg19 20q13.31-13.33(chr20:55743522-62032989)x3	CDH4, CHRNA4 +68 more	Copy number gain	not provided	GPathogenic
Select item 687715	GRCh37/hg19 20q13.33(chr20:61678415-62247462)x3	ARFGAP1, BIRC7 +14 more	Copy number gain	not provided	GUncertain significance
Select item 687280	GRCh37/hg19 20q13.33(chr20:60946209-61975606)x3	ARFGAP1, BHLHE23 +23 more	Copy number gain	not provided	GUncertain significance
Select item 625661	GRCh37/hg19 20q13.2-13.33(chr20:54143747-62194881)	ADRM1, ANKRD60 +86 more	Copy number gain	not provided	GPathogenic
Select item 564629	GRCh37/hg19 20q13.33(chr20:61815143-62318983)x1	COL20A1, NKAIN4 +14 more	Copy number loss	not provided	GPathogenic
Select item 564626	GRCh37/hg19 20q13.33(chr20:61658787-62070966)x3	NKAIN4, HAR1B +7 more	Copy number gain	not provided	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 442964	GRCh37/hg19 20q13.33(chr20:61530581-61911114)x1	ARFGAP1, BHLHE23 +8 more	Copy number loss	See cases	GLikely benign
Select item 442909	GRCh37/hg19 20q13.33(chr20:61602977-62450998)x3	ARFGAP1, ARFRP1 +23 more	Copy number gain	See cases	GUncertain significance
Select item 442701	GRCh37/hg19 20q13.33(chr20:61884113-62915555)x1	ABHD16B, ARFGAP1 +33 more	Copy number loss	See cases	GPathogenic
Select item 441724	GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3	ABHD16B, ADRM1 +116 more	Copy number gain	See cases	GLikely pathogenic
Select item 425532	GRCh37/hg19 20q13.33(chr20:61337529-62904501)x1	COL9A3, DIDO1 +46 more	Copy number loss	not provided	GLikely pathogenic
Select item 395261	GRCh37/hg19 20q13.33(chr20:61827144-62907467)x1	ARFGAP1, ARFRP1 +35 more	Copy number loss	See cases	GPathogenic
Select item 253468	GRCh37/hg19 20q13.33(chr20:61429900-62293991)x1	COL20A1, BHLHE23 +24 more	Copy number loss	See cases	GPathogenic
Select item 253445	GRCh37/hg19 20q13.33(chr20:61827144-62907526)x1	PPDPF, OPRL1 +35 more	Copy number loss	See cases	GPathogenic
Select item 221406	GRCh37/hg19 20q13.33(chr20:60882468-62045494)x1	ADRM1, ARFGAP1 +26 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221371	chr20:61880169-61908597 complex variant	ARFGAP1, NKAIN4	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221355	chr20:60885242-61929348 complex variant	ARFGAP1, BHLHE23 +23 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 96