ADAM20[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3144751	NM_003814.5(ADAM20):c.2098C>T (p.Leu700Phe)	ADAM20 (L700F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246404	NM_003814.5(ADAM20):c.2075G>A (p.Arg692His)	ADAM20 (R692H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481840	NM_003814.5(ADAM20):c.2062A>T (p.Met688Leu)	ADAM20 (M688L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385667	NM_003814.5(ADAM20):c.1996A>G (p.Lys666Glu)	ADAM20 (K666E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265723	NM_003814.5(ADAM20):c.1989C>G (p.Cys663Trp)	ADAM20 (C663W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144742	NM_003814.5(ADAM20):c.1865G>A (p.Arg622His)	ADAM20 (R622H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2404495	NM_003814.5(ADAM20):c.1842T>G (p.Cys614Trp)	ADAM20 (C614W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532766	NM_003814.5(ADAM20):c.1736C>T (p.Ser579Phe)	ADAM20 (S579F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144736	NM_003814.5(ADAM20):c.1679T>C (p.Met560Thr)	ADAM20 (M560T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542755	NM_003814.5(ADAM20):c.1676T>C (p.Ile559Thr)	ADAM20 (I559T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144729	NM_003814.5(ADAM20):c.1652A>G (p.Tyr551Cys)	ADAM20 (Y551C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264031	NM_003814.5(ADAM20):c.1621T>G (p.Phe541Val)	ADAM20 (F541V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487025	NM_003814.5(ADAM20):c.1610A>G (p.Gln537Arg)	ADAM20 (Q537R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342175	NM_003814.5(ADAM20):c.1565A>G (p.Asp522Gly)	ADAM20 (D522G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551821	NM_003814.5(ADAM20):c.1520C>T (p.Thr507Met)	ADAM20 (T507M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265670	NM_003814.5(ADAM20):c.1477G>A (p.Asp493Asn)	ADAM20 (D493N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367468	NM_003814.5(ADAM20):c.1471G>T (p.Val491Leu)	ADAM20 (V491L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144715	NM_003814.5(ADAM20):c.1421T>C (p.Leu474Pro)	ADAM20 (L474P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265687	NM_003814.5(ADAM20):c.1403A>G (p.Gln468Arg)	ADAM20 (Q468R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617333	NM_003814.5(ADAM20):c.1330G>C (p.Gly444Arg)	ADAM20 (G444R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487024	NM_003814.5(ADAM20):c.1305T>G (p.Cys435Trp)	ADAM20 (C435W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299928	NM_003814.5(ADAM20):c.1262G>A (p.Cys421Tyr)	ADAM20 (C421Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389044	NM_003814.5(ADAM20):c.1261T>C (p.Cys421Arg)	ADAM20 (C421R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144698	NM_003814.5(ADAM20):c.1248A>C (p.Glu416Asp)	ADAM20 (E416D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228768	NM_003814.5(ADAM20):c.1150T>C (p.Tyr384His)	ADAM20 (Y384H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241784	NM_003814.5(ADAM20):c.1131C>A (p.Ser377Arg)	ADAM20 (S377R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144690	NM_003814.5(ADAM20):c.1127T>G (p.Phe376Cys)	ADAM20 (F376C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523605	NM_003814.5(ADAM20):c.1048A>G (p.Met350Val)	ADAM20 (M350V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215899	NM_003814.5(ADAM20):c.932C>A (p.Ala311Asp)	ADAM20 (A311D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144683	NM_003814.5(ADAM20):c.872T>G (p.Leu291Arg)	ADAM20 (L291R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489183	NM_003814.5(ADAM20):c.848A>G (p.Lys283Arg)	ADAM20 (K283R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144800	NM_003814.5(ADAM20):c.737A>G (p.His246Arg)	ADAM20 (H246R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265695	NM_003814.5(ADAM20):c.734A>G (p.Tyr245Cys)	ADAM20 (Y245C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458565	NM_003814.5(ADAM20):c.716A>G (p.Asn239Ser)	ADAM20 (N239S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265713	NM_003814.5(ADAM20):c.694C>T (p.His232Tyr)	ADAM20 (H232Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144794	NM_003814.5(ADAM20):c.683C>T (p.Thr228Ile)	ADAM20 (T228I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144789	NM_003814.5(ADAM20):c.577A>G (p.Thr193Ala)	ADAM20 (T193A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353304	NM_003814.5(ADAM20):c.571A>G (p.Asn191Asp)	ADAM20 (N191D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356932	NM_003814.5(ADAM20):c.554A>G (p.Glu185Gly)	ADAM20 (E185G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323072	NM_003814.5(ADAM20):c.511A>G (p.Met171Val)	ADAM20 (M171V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613272	NM_003814.5(ADAM20):c.509C>A (p.Pro170His)	ADAM20 (P170H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144778	NM_003814.5(ADAM20):c.487A>G (p.Ser163Gly)	ADAM20 (S163G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218143	NM_003814.5(ADAM20):c.403A>G (p.Met135Val)	ADAM20 (M135V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2494144	NM_003814.5(ADAM20):c.253G>A (p.Ala85Thr)	ADAM20 (A85T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3265703	NM_003814.5(ADAM20):c.235A>T (p.Asn79Tyr)	ADAM20 (N79Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483545	NM_003814.5(ADAM20):c.220G>A (p.Val74Ile)	ADAM20 (V74I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144756	NM_003814.5(ADAM20):c.196C>T (p.Arg66Trp)	ADAM20 (R66W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265681	NM_003814.5(ADAM20):c.155G>A (p.Gly52Asp)	ADAM20 (G52D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144755	NM_003814.5(ADAM20):c.118C>T (p.Pro40Ser)	ADAM20 (P40S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2347776	NM_003814.5(ADAM20):c.95G>T (p.Arg32Met)	ADAM20 (R32M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351083	NM_003814.5(ADAM20):c.86C>T (p.Ser29Phe)	ADAM20 (S29F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290285	NM_003814.5(ADAM20):c.-71C>G	ADAM20	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2301996	NM_003814.5(ADAM20):c.-90A>G	ADAM20	Single nucleotide variant (5 prime UTR variant)	not specified	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 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	ISCA2, TMEM30B +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 980611	GRCh37/hg19 14q24.2(chr14:70911391-70992969)x1	ADAM21, ADAM20	Copy number loss	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 443425	GRCh37/hg19 14q24.1-24.2(chr14:68035240-73568130)x1	ACTN1, ADAM20 +34 more	Copy number loss	See cases	GLikely pathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic

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Items: 63