171019[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 150374	GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1	LOC129389350, LOC129389351 +377 more	Copy number loss	See cases	GPathogenic
Select item 59673	GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1	LOC129994580, LOC129994581 +336 more	Copy number loss	See cases	GPathogenic
Select item 58356	GRCh38/hg38 5q23.2-31.1(chr5:126438406-132873967)x1	LOC129994513, LOC129994514 +200 more	Copy number loss	See cases	GPathogenic
Select item 146646	GRCh38/hg38 5q23.3(chr5:129434947-129762848)x3	ADAMTS19, ADAMTS19-AS1 +1 more	Copy number gain	See cases	GBenign
Select item 147728	GRCh38/hg38 5q23.3(chr5:129444185-129973967)x3	ADAMTS19, ADAMTS19-AS1 +3 more	Copy number gain	See cases	GUncertain significance
Select item 3076553	NM_133638.6(ADAMTS19):c.98A>T (p.Gln33Leu)	ADAMTS19 (Q33L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362481	NM_133638.6(ADAMTS19):c.112C>G (p.Arg38Gly)	ADAMTS19 (R38G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329048	NM_133638.6(ADAMTS19):c.113G>T (p.Arg38Leu)	ADAMTS19 (R38L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264757	NM_133638.6(ADAMTS19):c.127G>A (p.Val43Ile)	ADAMTS19 (V43I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491737	NM_133638.6(ADAMTS19):c.140C>T (p.Ala47Val)	ADAMTS19 (A47V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225330	NM_133638.6(ADAMTS19):c.140C>G (p.Ala47Gly)	ADAMTS19 (A47G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348651	NM_133638.6(ADAMTS19):c.157C>A (p.Pro53Thr)	ADAMTS19 (P53T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474934	NM_133638.6(ADAMTS19):c.217G>C (p.Gly73Arg)	ADAMTS19 (G73R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2063500	NM_133638.6(ADAMTS19):c.237_238del (p.Gln81fs)	ADAMTS19 (Q81fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3267190	NM_133638.6(ADAMTS19):c.251G>A (p.Gly84Asp)	ADAMTS19 (G84D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2050921	NM_133638.6(ADAMTS19):c.270del (p.Ser91fs)	ADAMTS19 (S91fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2287311	NM_133638.6(ADAMTS19):c.301G>A (p.Val101Met)	ADAMTS19 (V101M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378911	NM_133638.6(ADAMTS19):c.311G>C (p.Arg104Pro)	ADAMTS19 (R104P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548892	NM_133638.6(ADAMTS19):c.335C>T (p.Pro112Leu)	ADAMTS19 (P112L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602395	NM_133638.6(ADAMTS19):c.382C>G (p.Leu128Val)	ADAMTS19 (L128V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3233453	NM_133638.6(ADAMTS19):c.407C>A (p.Ala136Asp)	ADAMTS19 (A136D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076538	NM_133638.6(ADAMTS19):c.416C>G (p.Ser139Cys)	ADAMTS19 (S139C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401140	NM_133638.6(ADAMTS19):c.439C>A (p.Gln147Lys)	ADAMTS19 (Q147K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346675	NM_133638.6(ADAMTS19):c.452C>T (p.Pro151Leu)	ADAMTS19 (P151L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267089	NM_133638.6(ADAMTS19):c.461C>A (p.Pro154Gln)	ADAMTS19 (P154Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267098	NM_133638.6(ADAMTS19):c.475C>T (p.Pro159Ser)	ADAMTS19 (P159S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267195	NM_133638.6(ADAMTS19):c.497C>T (p.Pro166Leu)	ADAMTS19 (P166L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614109	NM_133638.6(ADAMTS19):c.511G>C (p.Val171Leu)	ADAMTS19 (V171L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 790568	NM_133638.6(ADAMTS19):c.555G>C (p.Leu185=)	ADAMTS19	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3041049	NM_133638.6(ADAMTS19):c.568G>A (p.Gly190Ser)	ADAMTS19 (G190S)	Single nucleotide variant (missense variant)	ADAMTS19-related disorder	GLikely benign
Select item 3267184	NM_133638.6(ADAMTS19):c.596T>A (p.Val199Glu)	ADAMTS19 (V199E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 771383	NM_133638.6(ADAMTS19):c.616GGCCCC[3] (p.206GP[3])	ADAMTS19	Microsatellite (inframe_insertion)	not provided	GBenign
Select item 776063	NM_133638.6(ADAMTS19):c.622G>A (p.Gly208Ser)	ADAMTS19 (G208S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2457203	NM_133638.6(ADAMTS19):c.670G>T (p.Ala224Ser)	ADAMTS19 (A224S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474479	NM_133638.6(ADAMTS19):c.692C>G (p.Ala231Gly)	ADAMTS19 (A231G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3233986	NM_133638.6(ADAMTS19):c.747+7G>A	ADAMTS19	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2673025	NM_133638.6(ADAMTS19):c.765C>T (p.Leu255=)	ADAMTS19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3267178	NM_133638.6(ADAMTS19):c.789G>T (p.Glu263Asp)	ADAMTS19 (E263D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530425	NM_133638.6(ADAMTS19):c.805A>G (p.Met269Val)	ADAMTS19 (M269V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2518940	NM_133638.6(ADAMTS19):c.811A>G (p.Ile271Val)	ADAMTS19 (I271V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339749	NM_133638.6(ADAMTS19):c.892C>T (p.His298Tyr)	ADAMTS19 (H298Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 750229	NM_133638.6(ADAMTS19):c.897C>T (p.Tyr299=)	ADAMTS19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2206015	NM_133638.6(ADAMTS19):c.938A>G (p.Lys313Arg)	ADAMTS19 (K313R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267148	NM_133638.6(ADAMTS19):c.1006G>C (p.Val336Leu)	ADAMTS19 (V336L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267140	NM_133638.6(ADAMTS19):c.1076T>C (p.Ile359Thr)	ADAMTS19 (I359T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3032728	NM_133638.6(ADAMTS19):c.1076T>A (p.Ile359Asn)	ADAMTS19 (I359N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267059	NM_133638.6(ADAMTS19):c.1135C>T (p.Arg379Cys)	ADAMTS19 (R379C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457653	NM_133638.6(ADAMTS19):c.1163A>T (p.Glu388Val)	ADAMTS19 (E388V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359333	NM_133638.6(ADAMTS19):c.1242T>A (p.Phe414Leu)	ADAMTS19 (F414L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304895	NM_133638.6(ADAMTS19):c.1250A>G (p.Lys417Arg)	ADAMTS19 (K417R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296285	NM_133638.6(ADAMTS19):c.1276A>G (p.Thr426Ala)	ADAMTS19 (T426A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270639	NM_133638.6(ADAMTS19):c.1294A>G (p.Met432Val)	ADAMTS19 (M432V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401500	NM_133638.6(ADAMTS19):c.1295T>C (p.Met432Thr)	ADAMTS19 (M432T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 764849	NM_133638.6(ADAMTS19):c.1372+9G>A	ADAMTS19	Single nucleotide variant	not provided	GLikely benign
Select item 3267130	NM_133638.6(ADAMTS19):c.1382A>T (p.Tyr461Phe)	ADAMTS19 (Y461F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3076436	NM_133638.6(ADAMTS19):c.1491C>G (p.Asn497Lys)	ADAMTS19 (N497K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518699	NM_133638.6(ADAMTS19):c.1586G>T (p.Arg529Leu)	ADAMTS19 (R529L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3236630	NM_133638.6(ADAMTS19):c.1596G>C (p.Lys532Asn)	ADAMTS19 (K532N)	Single nucleotide variant (missense variant)	Cardiac valvular dysplasia 2	GUncertain significance
Select item 2633743	NM_133638.6(ADAMTS19):c.1620-2A>C	ADAMTS19	Single nucleotide variant (splice acceptor variant)	ADAMTS19-related disorder	GUncertain significance
Select item 2318367	NM_133638.6(ADAMTS19):c.1621T>C (p.Ser541Pro)	ADAMTS19 (S541P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267041	NM_133638.6(ADAMTS19):c.1628C>T (p.Ala543Val)	ADAMTS19 (A543V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 713081	NM_133638.6(ADAMTS19):c.1655C>T (p.Pro552Leu)	ADAMTS19 (P552L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3267109	NM_133638.6(ADAMTS19):c.1703C>T (p.Thr568Ile)	ADAMTS19 (T568I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3076440	NM_133638.6(ADAMTS19):c.1732C>T (p.Leu578Phe)	ADAMTS19 (L578F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508341	NM_133638.6(ADAMTS19):c.1737T>G (p.Phe579Leu)	ADAMTS19 (F579L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615719	NM_133638.6(ADAMTS19):c.1801G>A (p.Val601Ile)	ADAMTS19 (V601I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3052103	NM_133638.6(ADAMTS19):c.1899C>A (p.Ser633Arg)	ADAMTS19 (S633R)	Single nucleotide variant (missense variant)	ADAMTS19-related disorder	GLikely benign
Select item 3076456	NM_133638.6(ADAMTS19):c.1927G>A (p.Gly643Arg)	ADAMTS19 (G643R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2155981	NM_133638.6(ADAMTS19):c.1930G>T (p.Glu644Ter)	ADAMTS19 (E644*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1707571	NM_133638.6(ADAMTS19):c.1957C>T (p.Arg653Ter)	ADAMTS19 (R653*)	Single nucleotide variant (nonsense)	Cardiac valvular dysplasia 2	GPathogenic
Select item 1707568	NM_133638.6(ADAMTS19):c.1984C>T (p.Arg662Ter)	ADAMTS19 (R662*)	Single nucleotide variant (nonsense)	Cardiac valvular dysplasia 2	GPathogenic
Select item 3267079	NM_133638.6(ADAMTS19):c.1990C>T (p.Arg664Cys)	ADAMTS19 (R664C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1707569	NM_133638.6(ADAMTS19):c.2003+1G>T	ADAMTS19	Single nucleotide variant (splice donor variant)	Cardiac valvular dysplasia 2	GPathogenic
Select item 3029161	NM_133638.6(ADAMTS19):c.2194T>A (p.Phe732Ile)	ADAMTS19 (F732I)	Single nucleotide variant (missense variant)	ADAMTS19-related disorder	GUncertain significance
Select item 3267069	NM_133638.6(ADAMTS19):c.2279A>G (p.Asp760Gly)	ADAMTS19 (D760G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3076460	NM_133638.6(ADAMTS19):c.2350C>A (p.His784Asn)	ADAMTS19 (H784N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3238751	NM_133638.6(ADAMTS19):c.2423C>T (p.Ala808Val)	ADAMTS19 (A808V)	Single nucleotide variant (missense variant)	Cardiac valvular dysplasia 2	GUncertain significance
Select item 3267164	NM_133638.6(ADAMTS19):c.2558A>C (p.His853Pro)	ADAMTS19 (H853P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3076463	NM_133638.6(ADAMTS19):c.2567C>A (p.Ala856Asp)	ADAMTS19 (A856D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357075	NM_133638.6(ADAMTS19):c.2590G>A (p.Val864Ile)	ADAMTS19 (V864I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267169	NM_133638.6(ADAMTS19):c.2606G>A (p.Arg869Gln)	ADAMTS19 (R869Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267157	NM_133638.6(ADAMTS19):c.2611C>T (p.Leu871Phe)	ADAMTS19 (L871F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2655687	NM_133638.6(ADAMTS19):c.2646A>C (p.Thr882=)	ADAMTS19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2301438	NM_133638.6(ADAMTS19):c.2755C>T (p.Pro919Ser)	ADAMTS19 (P919S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3076474	NM_133638.6(ADAMTS19):c.2902A>G (p.Thr968Ala)	ADAMTS19 (T968A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3032008	NM_133638.6(ADAMTS19):c.2923C>T (p.Arg975Ter)	ADAMTS19 (R975*)	Single nucleotide variant (nonsense)	ADAMTS19-related disorder	GLikely pathogenic
Select item 2271569	NM_133638.6(ADAMTS19):c.2987G>A (p.Arg996Gln)	ADAMTS19 (R996Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259563	NM_133638.6(ADAMTS19):c.2999A>C (p.Lys1000Thr)	ADAMTS19 (K1000T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603498	NM_133638.6(ADAMTS19):c.3065G>A (p.Arg1022Gln)	ADAMTS19 (R1022Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 760695	NM_133638.6(ADAMTS19):c.3069G>A (p.Glu1023=)	ADAMTS19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2602394	NM_133638.6(ADAMTS19):c.3071G>A (p.Arg1024Lys)	ADAMTS19 (R1024K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3354014	NM_133638.6(ADAMTS19):c.3084del (p.Lys1030fs)	ADAMTS19 (K1030fs)	Deletion (frameshift variant)	ADAMTS19-related disorder	GLikely pathogenic
Select item 3076492	NM_133638.6(ADAMTS19):c.3094G>A (p.Ala1032Thr)	ADAMTS19 (A1032T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3238775	NM_133638.6(ADAMTS19):c.3107G>A (p.Arg1036His)	ADAMTS19 (R1036H)	Single nucleotide variant (missense variant)	Cardiac valvular dysplasia 2	GUncertain significance
Select item 3267119	NM_133638.6(ADAMTS19):c.3133G>A (p.Val1045Met)	ADAMTS19 (V1045M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3076495	NM_133638.6(ADAMTS19):c.3146G>A (p.Gly1049Glu)	ADAMTS19 (G1049E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479904	NM_133638.6(ADAMTS19):c.3164C>T (p.Ser1055Leu)	ADAMTS19 (S1055L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3076499	NM_133638.6(ADAMTS19):c.3193C>T (p.Arg1065Trp)	ADAMTS19 (R1065W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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