ADAM30[gene] - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 58088	GRCh38/hg38 1p13.1-12(chr1:116059621-120130051)x3	ADAM30, ATP1A1 +140 more	Copy number gain	See cases	GPathogenic
Select item 151326	GRCh38/hg38 1p12(chr1:118752239-119977596)x3	ADAM30, HAO2 +42 more	Copy number gain	See cases	GLikely benign
Select item 155139	GRCh38/hg38 1p12(chr1:118933857-119977655)x1	ADAM30, HAO2 +38 more	Copy number loss	See cases	GUncertain significance
Select item 153442	GRCh38/hg38 1p12(chr1:119772887-120006962)x3	ADAM30, LOC111776218 +5 more	Copy number gain	See cases	GUncertain significance
Select item 154812	GRCh38/hg38 1p12(chr1:119780904-119977655)x3	ADAM30, LOC111776218 +4 more	Copy number gain	See cases	GUncertain significance
Select item 147485	GRCh38/hg38 1p12(chr1:119816901-119977655)x3	ADAM30, LOC111776218 +3 more	Copy number gain	See cases	GUncertain significance
Select item 2620413	NM_021794.4(ADAM30):c.2329A>G (p.Ser777Gly)	ADAM30 (S777G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280327	NM_021794.4(ADAM30):c.2309A>G (p.Glu770Gly)	ADAM30 (E770G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226107	NM_021794.4(ADAM30):c.2287A>G (p.Lys763Glu)	ADAM30 (K763E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145498	NM_021794.4(ADAM30):c.2257T>C (p.Ser753Pro)	ADAM30 (S753P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404902	NM_021794.4(ADAM30):c.2170C>A (p.Pro724Thr)	ADAM30 (P724T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409742	NM_021794.4(ADAM30):c.2125C>T (p.Arg709Trp)	ADAM30 (R709W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408983	NM_021794.4(ADAM30):c.2051C>T (p.Ser684Leu)	ADAM30 (S684L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3145487	NM_021794.4(ADAM30):c.1949G>C (p.Cys650Ser)	ADAM30 (C650S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145484	NM_021794.4(ADAM30):c.1890G>C (p.Gln630His)	ADAM30 (Q630H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145480	NM_021794.4(ADAM30):c.1865A>T (p.Asn622Ile)	ADAM30 (N622I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265967	NM_021794.4(ADAM30):c.1810G>A (p.Gly604Ser)	ADAM30 (G604S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145475	NM_021794.4(ADAM30):c.1774C>A (p.His592Asn)	ADAM30 (H592N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282060	NM_021794.4(ADAM30):c.1772A>G (p.Tyr591Cys)	ADAM30 (Y591C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265985	NM_021794.4(ADAM30):c.1768G>A (p.Gly590Ser)	ADAM30 (G590S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555222	NM_021794.4(ADAM30):c.1765A>G (p.Thr589Ala)	ADAM30 (T589A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145468	NM_021794.4(ADAM30):c.1754T>C (p.Met585Thr)	ADAM30 (M585T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298029	NM_021794.4(ADAM30):c.1687G>A (p.Glu563Lys)	ADAM30 (E563K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2607341	NM_021794.4(ADAM30):c.1657A>G (p.Ile553Val)	ADAM30 (I553V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313485	NM_021794.4(ADAM30):c.1655C>T (p.Ser552Leu)	ADAM30 (S552L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617334	NM_021794.4(ADAM30):c.1570G>A (p.Asp524Asn)	ADAM30 (D524N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356128	NM_021794.4(ADAM30):c.1489A>G (p.Arg497Gly)	ADAM30 (R497G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303235	NM_021794.4(ADAM30):c.1481G>T (p.Arg494Leu)	ADAM30 (R494L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410096	NM_021794.4(ADAM30):c.1406A>G (p.Tyr469Cys)	ADAM30 (Y469C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474744	NM_021794.4(ADAM30):c.1360G>A (p.Gly454Arg)	ADAM30 (G454R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255245	NM_021794.4(ADAM30):c.1272T>A (p.Asp424Glu)	ADAM30 (D424E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265976	NM_021794.4(ADAM30):c.1256A>C (p.Glu419Ala)	ADAM30 (E419A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266004	NM_021794.4(ADAM30):c.1231G>A (p.Glu411Lys)	ADAM30 (E411K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145439	NM_021794.4(ADAM30):c.1046A>T (p.Asp349Val)	ADAM30 (D349V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401672	NM_021794.4(ADAM30):c.983A>G (p.Asn328Ser)	ADAM30 (N328S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227616	NM_021794.4(ADAM30):c.929G>C (p.Gly310Ala)	ADAM30 (G310A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145550	NM_021794.4(ADAM30):c.824G>C (p.Arg275Thr)	ADAM30 (R275T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145548	NM_021794.4(ADAM30):c.790G>C (p.Val264Leu)	ADAM30 (V264L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2460675	NM_021794.4(ADAM30):c.790G>A (p.Val264Ile)	ADAM30 (V264I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616269	NM_021794.4(ADAM30):c.658A>G (p.Asn220Asp)	ADAM30 (N220D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145536	NM_021794.4(ADAM30):c.655G>A (p.Val219Met)	ADAM30 (V219M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316129	NM_021794.4(ADAM30):c.643A>G (p.Arg215Gly)	ADAM30 (R215G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370139	NM_021794.4(ADAM30):c.598A>C (p.Lys200Gln)	ADAM30 (K200Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558821	NM_021794.4(ADAM30):c.537A>G (p.Ile179Met)	ADAM30 (I179M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384680	NM_021794.4(ADAM30):c.508C>G (p.Gln170Glu)	ADAM30 (Q170E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316604	NM_021794.4(ADAM30):c.426A>C (p.Lys142Asn)	ADAM30 (K142N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526847	NM_021794.4(ADAM30):c.410T>G (p.Phe137Cys)	ADAM30 (F137C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265995	NM_021794.4(ADAM30):c.388A>G (p.Met130Val)	ADAM30 (M130V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275511	NM_021794.4(ADAM30):c.376A>G (p.Ile126Val)	ADAM30 (I126V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325851	NM_021794.4(ADAM30):c.320C>A (p.Pro107Gln)	ADAM30 (P107Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639039	NM_021794.4(ADAM30):c.291G>A (p.Gly97=)	ADAM30	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2591247	NM_021794.4(ADAM30):c.236C>A (p.Pro79His)	ADAM30 (P79H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145533	NM_021794.4(ADAM30):c.59C>A (p.Thr20Lys)	ADAM30 (T20K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247716	NC_000001.10:g.(?_120254646)_(120512387_?)dup	REG4, ADAM30 +3 more	Duplication	Hajdu-Cheney syndrome	GUncertain significance
Select item 3063421	GRCh37/hg19 1p12(chr1:119425396-120523902)x3	ADAM30, HAO2 +9 more	Copy number gain	not specified	GUncertain significance
Select item 2685822	GRCh37/hg19 1p12(chr1:119426691-120527495)x3	ADAM30, HAO2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 2425621	NC_000001.10:g.(?_120277237)_(120529725_?)dup	ADAM30, HMGCS2 +3 more	Duplication	PHGDH deficiency	GUncertain significance
Select item 1527270	GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783)	NHLH2, NOTCH2 +78 more	Copy number gain	not specified	GPathogenic
Select item 1440997	NC_000001.10:g.(?_119427355)_(120529725_?)dup	ADAM30, HAO2 +9 more	Duplication	Hajdu-Cheney syndrome	GUncertain significance
Select item 1340543	GRCh37/hg19 1p12(chr1:119584796-120527495)x3	ADAM30, HAO2 +8 more	Copy number gain	not provided	GUncertain significance
Select item 686601	GRCh37/hg19 1p12(chr1:119425395-120527495)x3	ADAM30, HAO2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 565145	GRCh37/hg19 1p12(chr1:120315510-120527495)x3	REG4, NOTCH2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 565144	GRCh37/hg19 1p12(chr1:120294903-120527495)x3	HMGCS2, REG4 +2 more	Copy number gain	not provided	GUncertain significance
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395148	GRCh37/hg19 1p12(chr1:119806427-120438201)x3	ADAM30, HAO2 +6 more	Copy number gain	See cases	GUncertain significance

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Items: 68