ADAM19[gene] - ClinVar

Search results

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic
Select item 149231	GRCh38/hg38 5q33.1-34(chr5:152443869-166104392)x1	ADAM19, ADRA1B +294 more	Copy number loss	See cases	GPathogenic
Select item 58390	GRCh38/hg38 5q33.1-34(chr5:152761187-167248053)x1	ADAM19, ADRA1B +279 more	Copy number loss	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	ADAM19, ADAMTS2 +863 more	Copy number gain	See cases	GPathogenic
Select item 3144569	NM_033274.5(ADAM19):c.2738T>C (p.Met913Thr)	ADAM19 (M913T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144565	NM_033274.5(ADAM19):c.2701A>G (p.Lys901Glu)	ADAM19 (K901E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144558	NM_033274.5(ADAM19):c.2678G>A (p.Arg893Gln)	ADAM19 (R893Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2535033	NM_033274.5(ADAM19):c.2677C>T (p.Arg893Trp)	ADAM19 (R893W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355443	NM_033274.5(ADAM19):c.2647C>T (p.Arg883Trp)	ADAM19 (R883W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549859	NM_033274.5(ADAM19):c.2644C>A (p.Leu882Met)	ADAM19 (L882M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400203	NM_033274.5(ADAM19):c.2608C>T (p.Arg870Cys)	ADAM19 (R870C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228300	NM_033274.5(ADAM19):c.2567G>A (p.Arg856Gln)	ADAM19 (R856Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 208872	NM_033274.5(ADAM19):c.2563C>T (p.Pro855Ser)	ADAM19 (P855S)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 3144536	NM_033274.5(ADAM19):c.2560A>G (p.Arg854Gly)	ADAM19 (R854G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790983	NM_033274.5(ADAM19):c.2526C>T (p.Pro842=)	ADAM19	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3144533	NM_033274.5(ADAM19):c.2515C>T (p.Pro839Ser)	ADAM19 (P839S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294438	NM_033274.5(ADAM19):c.2513G>A (p.Arg838Gln)	ADAM19 (R838Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719097	NM_033274.5(ADAM19):c.2500C>G (p.Pro834Ala)	ADAM19 (P834A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2454435	NM_033274.5(ADAM19):c.2483C>T (p.Thr828Met)	ADAM19 (T828M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256849	NM_033274.5(ADAM19):c.2440G>A (p.Ala814Thr)	ADAM19 (A814T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 776088	NM_033274.5(ADAM19):c.2413G>A (p.Ala805Thr)	ADAM19 (A805T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2479453	NM_033274.5(ADAM19):c.2408C>T (p.Pro803Leu)	ADAM19 (P803L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212285	NM_033274.5(ADAM19):c.2375G>A (p.Arg792Gln)	ADAM19 (R792Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144510	NM_033274.5(ADAM19):c.2374C>T (p.Arg792Trp)	ADAM19 (R792W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144504	NM_033274.5(ADAM19):c.2351G>A (p.Arg784Gln)	ADAM19 (R784Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144501	NM_033274.5(ADAM19):c.2336C>T (p.Thr779Ile)	ADAM19 (T779I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144500	NM_033274.5(ADAM19):c.2279A>T (p.His760Leu)	ADAM19 (H760L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245659	NM_033274.5(ADAM19):c.2146G>A (p.Val716Ile)	ADAM19 (V716I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323471	NM_033274.5(ADAM19):c.2137G>A (p.Val713Met)	ADAM19 (V713M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715897	NM_033274.5(ADAM19):c.2080C>T (p.Pro694Ser)	ADAM19 (P694S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 714148	NM_033274.5(ADAM19):c.1986+3G>A	ADAM19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3144489	NM_033274.5(ADAM19):c.1958G>C (p.Gly653Ala)	ADAM19 (G653A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336933	NM_033274.5(ADAM19):c.1816C>T (p.Arg606Trp)	ADAM19 (R606W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144483	NM_033274.5(ADAM19):c.1763A>G (p.Asn588Ser)	ADAM19 (N588S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518205	NM_033274.5(ADAM19):c.1748G>A (p.Arg583Gln)	ADAM19 (R583Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144479	NM_033274.5(ADAM19):c.1700T>G (p.Met567Arg)	ADAM19 (M567R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261847	NM_033274.5(ADAM19):c.1691A>T (p.Lys564Met)	ADAM19 (K564M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144472	NM_033274.5(ADAM19):c.1674G>T (p.Met558Ile)	ADAM19 (M558I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259562	NM_033274.5(ADAM19):c.1615C>T (p.Leu539Phe)	ADAM19 (L539F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526604	NM_033274.5(ADAM19):c.1514C>T (p.Pro505Leu)	ADAM19 (P505L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476162	NM_033274.5(ADAM19):c.1489A>G (p.Asn497Asp)	ADAM19 (N497D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655999	NM_033274.5(ADAM19):c.1374C>T (p.His458=)	ADAM19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3144460	NM_033274.5(ADAM19):c.1355C>T (p.Pro452Leu)	ADAM19 (P452L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368102	NM_033274.5(ADAM19):c.1250G>A (p.Arg417Gln)	ADAM19 (R417Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2431088	NM_033274.5(ADAM19):c.1130+67G>T	ADAM19	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2341065	NM_033274.5(ADAM19):c.1081T>C (p.Cys361Arg)	ADAM19 (C361R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550257	NM_033274.5(ADAM19):c.1015G>A (p.Val339Met)	ADAM19 (V339M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144433	NM_033274.5(ADAM19):c.1007C>T (p.Ala336Val)	ADAM19 (A336V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546110	NM_033274.5(ADAM19):c.944C>G (p.Pro315Arg)	ADAM19 (P315R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312600	NM_033274.5(ADAM19):c.943C>T (p.Pro315Ser)	ADAM19 (P315S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144604	NM_033274.5(ADAM19):c.922G>A (p.Gly308Ser)	ADAM19 (G308S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283316	NM_033274.5(ADAM19):c.910A>G (p.Met304Val)	ADAM19 (M304V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790984	NM_033274.5(ADAM19):c.906-7C>A	ADAM19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2372736	NM_033274.5(ADAM19):c.794A>G (p.His265Arg)	ADAM19 (H265R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459703	NM_033274.5(ADAM19):c.722C>T (p.Ala241Val)	ADAM19 (A241V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601709	NM_033274.5(ADAM19):c.701A>G (p.Lys234Arg)	ADAM19 (K234R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321102	NM_033274.5(ADAM19):c.623C>T (p.Ser208Phe)	ADAM19 (S208F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478515	NM_033274.5(ADAM19):c.548C>T (p.Thr183Ile)	ADAM19 (T183I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513054	NM_033274.5(ADAM19):c.532C>T (p.His178Tyr)	ADAM19 (H178Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492984	NM_033274.5(ADAM19):c.528C>G (p.Phe176Leu)	ADAM19 (F176L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255265	NM_033274.5(ADAM19):c.448G>A (p.Glu150Lys)	ADAM19 (E150K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622346	NM_033274.5(ADAM19):c.419C>A (p.Thr140Lys)	ADAM19 (T140K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354385	NM_033274.5(ADAM19):c.353C>T (p.Thr118Met)	ADAM19 (T118M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257924	NM_033274.5(ADAM19):c.320G>A (p.Arg107Gln)	ADAM19 (R107Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545600	NM_033274.5(ADAM19):c.319C>T (p.Arg107Trp)	ADAM19 (R107W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784061	NM_033274.5(ADAM19):c.307C>G (p.Gln103Glu)	ADAM19 (Q103E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2431106	NM_033274.5(ADAM19):c.252-190C>A	ADAM19	Single nucleotide variant (intron variant)	Squamous cell carcinoma	GUncertain significance
Select item 2431107	NM_033274.5(ADAM19):c.252-193T>G	ADAM19	Single nucleotide variant (intron variant)	Squamous cell carcinoma	GUncertain significance
Select item 2431123	NM_033274.5(ADAM19):c.251+324T>G	ADAM19	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 3144494	NM_033274.5(ADAM19):c.202A>G (p.Arg68Gly)	ADAM19 (R68G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656000	NM_033274.5(ADAM19):c.187C>T (p.Leu63Phe)	ADAM19 (L63F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2431146	NM_033274.5(ADAM19):c.180+659A>C	ADAM19	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2520813	NM_033274.5(ADAM19):c.128A>G (p.His43Arg)	ADAM19 (H43R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542831	NM_033274.5(ADAM19):c.119A>G (p.Lys40Arg)	ADAM19 (K40R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556328	NM_033274.5(ADAM19):c.68G>A (p.Arg23Gln)	ADAM19, LOC129995137 (R23Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401130	NM_033274.5(ADAM19):c.23C>G (p.Ala8Gly)	ADAM19, LOC129995137 (A8G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1879644	GRCh37/hg19 5q33.3-34(chr5:156786013-162945369)x1	ADAM19, ADRA1B +29 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
Select item 1807669	GRCh37/hg19 5q33.3(chr5:156486127-156930814)x3	ADAM19, CYFIP2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1339784	GRCh37/hg19 5q33.3-34(chr5:155970607-162450579)x1	ADAM19, ADRA1B +33 more	Copy number loss	not provided	Gnot provided
Select item 814756	GRCh37/hg19 5q33.3-35.1(chr5:156347980-169959880)x1	ADAM19, ADRA1B +51 more	Copy number loss	not provided	GPathogenic
Select item 684880	GRCh37/hg19 5q33.3-35.1(chr5:156597181-171166353)x3	C5orf52, ADAM19 +51 more	Copy number gain	not provided	GPathogenic
Select item 563114	GRCh37/hg19 5q33.3(chr5:156911673-157225044)x3	LSM11, C5orf52 +4 more	Copy number gain	not provided	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 253504	GRCh37/hg19 5q33.2-35.1(chr5:154886174-169757448)x1	ADAM19, ADRA1B +50 more	Copy number loss	See cases	GPathogenic

ClinVar

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Items: 90