ClinVar for Gene (Select 57143) - ClinVar

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Links from Gene

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3269018	NM_020421.4(ADCK1):c.214T>C (p.Ser72Pro)	ADCK1 (S72P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3269008	NM_020421.4(ADCK1):c.589G>A (p.Val197Ile)	ADCK1 (V129I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3268997	NM_020421.4(ADCK1):c.1465A>G (p.Asn489Asp)	ADCK1 (N363D +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3268989	NM_020421.4(ADCK1):c.742G>T (p.Val248Phe)	ADCK1 (V122F +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3080781	NM_020421.4(ADCK1):c.656A>G (p.Asn219Ser)	ADCK1 (N151S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080771	NM_020421.4(ADCK1):c.523G>A (p.Val175Met)	ADCK1 (V107M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3080767	NM_020421.4(ADCK1):c.426C>G (p.Ile142Met)	ADCK1 (I142M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3080757	NM_020421.4(ADCK1):c.377G>T (p.Ser126Ile)	ADCK1 (S126I)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3080752	NM_020421.4(ADCK1):c.268C>T (p.Arg90Trp)	ADCK1 (R90W)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3080749	NM_020421.4(ADCK1):c.155A>G (p.Asp52Gly)	ADCK1 (D52G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3080738	NM_020421.4(ADCK1):c.1283T>C (p.Met428Thr)	ADCK1 (M360T +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080730	NM_020421.4(ADCK1):c.1217T>C (p.Ile406Thr)	ADCK1 (I353T +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080726	NM_020421.4(ADCK1):c.1100G>A (p.Arg367Gln)	ADCK1 (R241Q +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2684739	GRCh37/hg19 14q24.3(chr14:78152921-78505776)x3	ADCK1, ALKBH1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2684738	GRCh37/hg19 14q24.3-31.1(chr14:78078206-79605613)x3	ADCK1, ALKBH1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684737	GRCh37/hg19 14q24.3(chr14:77885734-78292290)x3	ADCK1, AHSA1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2616871	NM_020421.4(ADCK1):c.815A>G (p.Asn272Ser)	ADCK1 (N204S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2559139	NM_020421.4(ADCK1):c.160C>T (p.Leu54Phe)	ADCK1 (L54F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2558353	NM_020421.4(ADCK1):c.548G>A (p.Arg183Gln)	ADCK1 (R115Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2478562	NM_020421.4(ADCK1):c.1415A>G (p.Asn472Ser)	ADCK1 (N367S +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473864	NM_020421.4(ADCK1):c.380T>C (p.Met127Thr)	ADCK1 (M1T +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2407664	NM_020421.4(ADCK1):c.1270G>A (p.Val424Met)	ADCK1 (V298M +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379475	NM_020421.4(ADCK1):c.965C>T (p.Thr322Met)	ADCK1 (T322M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377296	NM_020421.4(ADCK1):c.797T>C (p.Val266Ala)	ADCK1 (V213A +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2376402	NM_020421.4(ADCK1):c.577A>G (p.Met193Val)	ADCK1 (M67V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2365444	NM_020421.4(ADCK1):c.922G>A (p.Asp308Asn)	ADCK1 (D269N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345751	NM_020421.4(ADCK1):c.1319G>A (p.Gly440Asp)	ADCK1 (G335D +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342178	NM_020421.4(ADCK1):c.1276C>T (p.Arg426Cys)	ADCK1 (R426C +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341748	NM_020421.4(ADCK1):c.949C>T (p.Arg317Trp)	ADCK1 (R249W +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339792	NM_020421.4(ADCK1):c.1016C>T (p.Thr339Met)	ADCK1 (T213M +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2297245	NM_020421.4(ADCK1):c.1084A>G (p.Lys362Glu)	ADCK1 (K309E +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2290082	NM_020421.4(ADCK1):c.1138A>G (p.Met380Val)	ADCK1 (M254V +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2256814	NM_020421.4(ADCK1):c.91C>T (p.Pro31Ser)	ADCK1 (P31S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2242344	NM_020421.4(ADCK1):c.1220G>A (p.Arg407His)	ADCK1 (R354H +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218825	NM_020421.4(ADCK1):c.913G>A (p.Val305Met)	ADCK1 (V362M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218378	NM_020421.4(ADCK1):c.725A>G (p.His242Arg)	ADCK1 (H116R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209648	NM_020421.4(ADCK1):c.971A>C (p.Lys324Thr)	ADCK1 (K256T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1527828	GRCh37/hg19 14q24.3(chr14:77862909-78274607)	ADCK1, AHSA1 +8 more	Copy number gain	not specified	GUncertain significance
Select item 980613	GRCh37/hg19 14q24.3-31.1(chr14:78075661-79605863)x4	SNW1, SLIRP +4 more	Copy number gain	not provided	GUncertain significance
Select item 686858	GRCh37/hg19 14q24.3-32.11(chr14:77274990-89803137)x1	ADCK1, AHSA1 +35 more	Copy number loss	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	ABCD4, ACOT1 +261 more	Copy number gain	See cases	GPathogenic
Select item 441709	GRCh37/hg19 14q24.3(chr14:76082940-78372356)x1	ADCK1, AHSA1 +27 more	Copy number loss	See cases	GUncertain significance
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 393987	GRCh37/hg19 14q24.3-31.1(chr14:78146198-79579214)x3	ADCK1, ALKBH1 +3 more	Copy number gain	See cases	GUncertain significance
Select item 253941	GRCh37/hg19 14q24.3(chr14:78146198-78504237)x3	SNW1, C14orf178 +3 more	Copy number gain	See cases	GUncertain significance
Select item 253839	GRCh37/hg19 14q24.3-31.1(chr14:78146198-79579273)x4	ADCK1, C14orf178 +3 more	Copy number gain	See cases	GUncertain significance
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 155198	GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1	ABCD4, ACOT1 +299 more	Copy number loss	See cases	GLikely pathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	See cases	GPathogenic
Select item 148347	GRCh38/hg38 14q24.3-31.1(chr14:77193005-80476132)x1	ADCK1, AHSA1 +72 more	Copy number loss	See cases	GLikely pathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	SAMD15, SEL1L +503 more	Copy number loss	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 57809	GRCh38/hg38 14q24.3-31.1(chr14:75489052-79610332)x1	ADCK1, AHSA1 +155 more	Copy number loss	See cases	GPathogenic
Select item 57808	GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	ABCD4, ACYP1 +227 more	Copy number loss	See cases	GPathogenic

ClinVar

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Germline classification

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Links from Gene

Items: 58