MEAK7[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	ADAD2, ADAMTS18 +591 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC130059772, LOC130059773 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC132090418, LOC132090419 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	ACSF3, ADAD2 +781 more	Copy number gain	See cases	GPathogenic
Select item 59517	GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1	LOC130059506, LOC130059507 +447 more	Copy number loss	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	LOC130059746, LOC130059747 +719 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	LOC130059500, LOC130059501 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	LOC132090448, LOC132090449 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	LOC130059591, LOC130059592 +670 more	Copy number gain	See cases	GPathogenic
Select item 59518	GRCh38/hg38 16q23.3-24.1(chr16:81753762-85714791)x1	ADAD2, ATP2C2 +211 more	Copy number loss	See cases	GPathogenic
Select item 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	LOC130059691, LOC130059692 +566 more	Copy number gain	See cases	GPathogenic
Select item 59519	GRCh38/hg38 16q23.3-24.1(chr16:83016872-85087809)x1	ADAD2, ATP2C2 +106 more	Copy number loss	See cases	GPathogenic
Select item 144447	GRCh38/hg38 16q23.3-24.1(chr16:83399060-84908120)x1	ADAD2, ATP2C2 +93 more	Copy number loss	See cases	GPathogenic
Select item 148918	GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3	ACSF3, ADAD2 +531 more	Copy number gain	See cases	GLikely pathogenic
Select item 147286	GRCh38/hg38 16q23.3-24.1(chr16:83687650-86073240)x1	ADAD2, CIBAR2 +203 more	Copy number loss	See cases	GPathogenic
Select item 150582	GRCh38/hg38 16q23.3-24.1(chr16:83763804-84558035)x1	ADAD2, ATP2C2 +55 more	Copy number loss	See cases	GUncertain significance
Select item 146470	GRCh38/hg38 16q23.3-24.1(chr16:83878992-84908120)x3	ADAD2, KCNG4 +80 more	Copy number gain	See cases	GUncertain significance
Select item 57422	GRCh38/hg38 16q23.3-24.2(chr16:83878992-87223838)x1	LOC130059603, LOC130059604 +227 more	Copy number loss	See cases	GPathogenic
Select item 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
Select item 3124795	NM_020947.4(MEAK7):c.1349G>A (p.Arg450Gln)	LOC126862428, MEAK7 (R450Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124794	NM_020947.4(MEAK7):c.1348C>T (p.Arg450Trp)	LOC126862428, MEAK7 (R450W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124793	NM_020947.4(MEAK7):c.1331G>A (p.Arg444His)	LOC126862428, MEAK7 (R444H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778506	NM_020947.4(MEAK7):c.1330C>T (p.Arg444Cys)	LOC126862428, MEAK7 (R444C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3124792	NM_020947.4(MEAK7):c.1312G>C (p.Glu438Gln)	LOC126862428, MEAK7 (E438Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589846	NM_020947.4(MEAK7):c.1302G>C (p.Gln434His)	LOC126862428, MEAK7 (Q434H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 707958	NM_020947.4(MEAK7):c.1301A>G (p.Gln434Arg)	LOC126862428, MEAK7 (Q434R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3124791	NM_020947.4(MEAK7):c.1298C>T (p.Ala433Val)	LOC126862428, MEAK7 (A433V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540385	NM_020947.4(MEAK7):c.1290C>A (p.Asp430Glu)	LOC126862428, MEAK7 (D430E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293924	NM_020947.4(MEAK7):c.1274G>A (p.Ser425Asn)	LOC126862428, MEAK7 (S425N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124789	NM_020947.4(MEAK7):c.1267A>G (p.Asn423Asp)	LOC126862428, MEAK7 (N423D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 729693	NM_020947.4(MEAK7):c.1258-6C>T	LOC126862428, MEAK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3124788	NM_020947.4(MEAK7):c.1252C>A (p.Gln418Lys)	MEAK7 (Q418K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124787	NM_020947.4(MEAK7):c.1241C>T (p.Pro414Leu)	MEAK7 (P414L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293926	NM_020947.4(MEAK7):c.1232T>C (p.Val411Ala)	MEAK7 (V411A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124786	NM_020947.4(MEAK7):c.1229C>T (p.Ala410Val)	MEAK7 (A410V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600199	NM_020947.4(MEAK7):c.1203C>G (p.Phe401Leu)	MEAK7 (F401L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124785	NM_020947.4(MEAK7):c.1187C>T (p.Ser396Leu)	MEAK7 (S396L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124784	NM_020947.4(MEAK7):c.1178C>T (p.Pro393Leu)	MEAK7 (P393L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454732	NM_020947.4(MEAK7):c.1173C>A (p.Asn391Lys)	MEAK7 (N391K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124783	NM_020947.4(MEAK7):c.1153C>T (p.Pro385Ser)	MEAK7 (P385S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535473	NM_020947.4(MEAK7):c.1105G>C (p.Gly369Arg)	MEAK7 (G369R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 742235	NM_020947.4(MEAK7):c.1089dup (p.Gln364fs)	MEAK7 (Q364fs)	Duplication (frameshift variant)	not provided	GLikely benign
Select item 3293928	NM_020947.4(MEAK7):c.1081A>G (p.Met361Val)	MEAK7 (M361V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545931	NM_020947.4(MEAK7):c.1073G>T (p.Gly358Val)	MEAK7 (G358V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454703	NM_020947.4(MEAK7):c.1072G>A (p.Gly358Arg)	MEAK7 (G358R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124782	NM_020947.4(MEAK7):c.1071C>G (p.Asn357Lys)	MEAK7 (N357K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124781	NM_020947.4(MEAK7):c.1067C>T (p.Pro356Leu)	MEAK7 (P356L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646925	NM_020947.4(MEAK7):c.1065C>T (p.Ile355=)	MEAK7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2517494	NM_020947.4(MEAK7):c.1048C>G (p.His350Asp)	MEAK7 (H350D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124780	NM_020947.4(MEAK7):c.1034A>G (p.Tyr345Cys)	MEAK7 (Y345C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484400	NM_020947.4(MEAK7):c.1001C>A (p.Ala334Asp)	MEAK7 (A334D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508430	NM_020947.4(MEAK7):c.989G>C (p.Cys330Ser)	MEAK7 (C330S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3124824	NM_020947.4(MEAK7):c.914G>C (p.Gly305Ala)	MEAK7 (G305A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124823	NM_020947.4(MEAK7):c.907G>T (p.Val303Leu)	MEAK7 (V303L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454400	NM_020947.4(MEAK7):c.886C>G (p.Leu296Val)	MEAK7 (L296V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293916	NM_020947.4(MEAK7):c.865C>T (p.Arg289Trp)	MEAK7 (R289W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293920	NM_020947.4(MEAK7):c.856A>T (p.Ile286Phe)	MEAK7 (I286F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293921	NM_020947.4(MEAK7):c.815C>G (p.Ser272Cys)	MEAK7 (S272C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771489	NM_020947.4(MEAK7):c.813G>A (p.Ser271=)	MEAK7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3124822	NM_020947.4(MEAK7):c.801C>G (p.Cys267Trp)	MEAK7 (C267W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124821	NM_020947.4(MEAK7):c.793C>G (p.Arg265Gly)	MEAK7 (R265G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293919	NM_020947.4(MEAK7):c.787C>T (p.Arg263Trp)	MEAK7 (R263W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124820	NM_020947.4(MEAK7):c.763A>C (p.Asn255His)	MEAK7 (N255H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293922	NM_020947.4(MEAK7):c.760A>G (p.Ile254Val)	MEAK7 (I254V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785544	NM_020947.4(MEAK7):c.736C>T (p.Leu246=)	MEAK7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3124819	NM_020947.4(MEAK7):c.716G>A (p.Gly239Asp)	MEAK7 (G239D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124818	NM_020947.4(MEAK7):c.701G>A (p.Arg234His)	MEAK7 (R234H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561305	NM_020947.4(MEAK7):c.700C>T (p.Arg234Cys)	MEAK7 (R234C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768801	NM_020947.4(MEAK7):c.699G>C (p.Glu233Asp)	MEAK7 (E233D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 779168	NM_020947.4(MEAK7):c.689T>C (p.Leu230Pro)	MEAK7 (L230P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3124817	NM_020947.4(MEAK7):c.682A>G (p.Thr228Ala)	MEAK7 (T228A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3124816	NM_020947.4(MEAK7):c.624A>G (p.Ile208Met)	MEAK7 (I208M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124815	NM_020947.4(MEAK7):c.605G>T (p.Arg202Met)	MEAK7 (R202M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124814	NM_020947.4(MEAK7):c.598G>T (p.Val200Leu)	MEAK7 (V200L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124813	NM_020947.4(MEAK7):c.576C>G (p.Asp192Glu)	MEAK7 (D192E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124812	NM_020947.4(MEAK7):c.568G>A (p.Asp190Asn)	MEAK7 (D190N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124811	NM_020947.4(MEAK7):c.566A>G (p.Tyr189Cys)	MEAK7 (Y189C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 771490	NM_020947.4(MEAK7):c.530-6C>T	MEAK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3124810	NM_020947.4(MEAK7):c.528A>C (p.Gln176His)	MEAK7 (Q176H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124809	NM_020947.4(MEAK7):c.497C>T (p.Ala166Val)	MEAK7 (A166V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124808	NM_020947.4(MEAK7):c.476A>G (p.Asn159Ser)	MEAK7 (N159S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124806	NM_020947.4(MEAK7):c.452C>A (p.Thr151Asn)	MEAK7 (T151N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124805	NM_020947.4(MEAK7):c.413T>A (p.Val138Glu)	MEAK7 (V138E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293918	NM_020947.4(MEAK7):c.406T>G (p.Ser136Ala)	MEAK7 (S136A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293917	NM_020947.4(MEAK7):c.376G>A (p.Val126Ile)	MEAK7 (V126I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124804	NM_020947.4(MEAK7):c.375A>C (p.Glu125Asp)	MEAK7 (E125D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124803	NM_020947.4(MEAK7):c.361G>A (p.Val121Met)	MEAK7 (V121M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779169	NM_020947.4(MEAK7):c.286T>G (p.Ser96Ala)	MEAK7 (S96A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2454397	NM_020947.4(MEAK7):c.270G>C (p.Gln90His)	MEAK7 (Q90H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124801	NM_020947.4(MEAK7):c.257T>G (p.Val86Gly)	MEAK7 (V86G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612513	NM_020947.4(MEAK7):c.245C>G (p.Pro82Arg)	MEAK7 (P82R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124800	NM_020947.4(MEAK7):c.236C>T (p.Ala79Val)	MEAK7 (A79V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597419	NM_020947.4(MEAK7):c.220G>A (p.Asp74Asn)	MEAK7 (D74N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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