MAK16[gene] - ClinVar

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Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC130000032, LOC130000033 +1105 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DPYSL2, DUSP26 +1020 more	Copy number gain	See cases	GPathogenic
Select item 150733	GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	LOC126860319, LOC126860320 +696 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	LOC130000106, LOC130000107 +937 more	Copy number gain	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	LOC130000241, LOC130000242 +934 more	Copy number gain	See cases	GPathogenic
Select item 57442	GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3	ADAM28, ADAM7 +665 more	Copy number gain	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC129999967, LOC129999968 +870 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	KAT6A-AS1, KCNU1 +929 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC130000074, LOC130000075 +929 more	Copy number gain	See cases	GPathogenic
Select item 59763	GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3	TNFRSF10A, TNFRSF10A-DT +705 more	Copy number gain	See cases	GPathogenic
Select item 34276	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	ADAM18, ADAM2 +870 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	LOC124153144, LOC124153145 +818 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC113788268, LOC113788269 +929 more	Copy number gain	See cases	GPathogenic
Select item 148997	GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3	LOC128772328, LOC129389957 +653 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC130000303, LOC130000304 +922 more	Copy number gain	See cases	GPathogenic
Select item 147303	GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	LOC113788272, LOC113788273 +807 more	Copy number gain	See cases	GPathogenic
Select item 57410	GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	LOC130000012, LOC130000013 +857 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 150985	GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	LOC130000050, LOC130000051 +791 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	LOC130000309, LOC130000310 +900 more	Copy number gain	See cases	GPathogenic
Select item 154680	GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1	ADAM28, ADAM7 +532 more	Copy number loss	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 57237	GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3	LOC130000135, LOC130000136 +593 more	Copy number gain	See cases	GPathogenic
Select item 147723	GRCh38/hg38 8p12-11.21(chr8:29362097-40231708)x1	ADAM18, ADAM2 +288 more	Copy number loss	See cases	GPathogenic
Select item 57312	GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3	ADAM18, ADAM2 +419 more	Copy number gain	See cases	GPathogenic
Select item 151191	GRCh38/hg38 8p12(chr8:30368765-36421541)x3	DUSP26, FUT10 +85 more	Copy number gain	See cases	GUncertain significance
Select item 757099	NM_032509.4(MAK16):c.9G>C (p.Ser3=)	MAK16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2236114	NM_032509.4(MAK16):c.164A>C (p.Lys55Thr)	MAK16 (K55T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589070	NM_032509.4(MAK16):c.223C>G (p.Arg75Gly)	MAK16 (R75G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388268	NM_032509.4(MAK16):c.427C>T (p.Arg143Cys)	MAK16 (R143C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292730	NM_032509.4(MAK16):c.428G>A (p.Arg143His)	MAK16 (R143H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292731	NM_032509.4(MAK16):c.590G>A (p.Ser197Asn)	MAK16 (S197N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658530	NM_032509.4(MAK16):c.627T>C (p.Asp209=)	MAK16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3292732	NM_032509.4(MAK16):c.684G>C (p.Glu228Asp)	MAK16 (E228D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274574	NM_032509.4(MAK16):c.701T>C (p.Phe234Ser)	MAK16 (F234S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122304	NM_032509.4(MAK16):c.743A>G (p.Gln248Arg)	MAK16 (Q248R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122305	NM_032509.4(MAK16):c.758C>T (p.Ser253Phe)	MAK16 (S253F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122307	NM_032509.4(MAK16):c.865C>A (p.Gln289Lys)	MAK16 (Q289K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264073	NM_032509.4(MAK16):c.889G>A (p.Ala297Thr)	MAK16 (A297T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 764915	NM_001102401.4(TTI2):c.1506C>T (p.Gly502=)	TTI2, MAK16	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 3184489	NM_001102401.4(TTI2):c.1475A>G (p.Tyr492Cys)	MAK16, TTI2 (Y461C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3184488	NM_001102401.4(TTI2):c.1439T>G (p.Ile480Ser)	MAK16, TTI2 (I449S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3184487	NM_001102401.4(TTI2):c.1426C>G (p.Leu476Val)	MAK16, TTI2 (L476V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2607669	NM_001102401.4(TTI2):c.1423G>A (p.Gly475Ser)	MAK16, TTI2 (G444S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 813601	NM_001102401.4(TTI2):c.1414C>T (p.Arg472Trp)	MAK16, TTI2 (R441W +1 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly	GUncertain significance
Select item 2663493	NM_001102401.4(TTI2):c.1399C>T (p.Arg467Cys)	MAK16, TTI2 (R436C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1685191	NM_001102401.4(TTI2):c.1397A>C (p.Asp466Ala)	TTI2, MAK16 (D435A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408213	NM_001102401.4(TTI2):c.1357G>A (p.Ala453Thr)	MAK16, TTI2 (A422T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 593064	NM_001102401.4(TTI2):c.1350dup (p.Lys451Ter)	MAK16, TTI2 (K420* +1 more)	Duplication (nonsense +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 88868	NM_001102401.4(TTI2):c.1307T>A (p.Ile436Asn)	MAK16, TTI2 (I436N +1 more)	Single nucleotide variant (missense variant +1 more)	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	GPathogenic
Select item 2470991	NM_001102401.4(TTI2):c.1297T>G (p.Leu433Val)	MAK16, TTI2 (L402V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 437080	NM_001102401.4(TTI2):c.1274T>G (p.Leu425Arg)	MAK16, TTI2 (L425R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 737813	NM_001102401.4(TTI2):c.1260-9T>C	MAK16, TTI2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3063038	GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	ADAM18, ADAM2 +150 more	Copy number gain	not specified	GPathogenic
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2684528	GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	ADAM28, ADAM7 +145 more	Copy number gain	not provided	GPathogenic
Select item 2684526	GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	ADAM28, ADAM7 +140 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	SMIM18, SORBS3 +225 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 1807790	GRCh37/hg19 8p21.2-11.22(chr8:26808969-38346383)x1	ADGRA2, ADRB3 +59 more	Copy number loss	not provided	GPathogenic
Select item 1711134	Single allele	CDCA2, CLDN23 +250 more	Complex	See cases	GPathogenic
Select item 1703665	Single allele	ADAMDEC1, ADGRA2 +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 997076	GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	SPAG11A, STMN4 +252 more	Copy number gain	Abnormal fetal cardiovascular morphology	GPathogenic
Select item 988938	GRCh37/hg19 8p12(chr8:32691933-33893567)x3	DUSP26, FUT10 +3 more	Copy number gain	not provided	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 685669	GRCh37/hg19 8p12(chr8:29103983-35728509)x1	DCTN6, DUSP26 +20 more	Copy number loss	not provided	GUncertain significance
Select item 626288	Single allele	ADAM28, ADAM7 +124 more	Duplication	not provided	GLikely pathogenic
Select item 624504	GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3	ADAM28, ADAM7 +123 more	Copy number gain	not provided	GLikely pathogenic
Select item 563554	GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3	ADAM28, ADAM7 +124 more	Copy number gain	not provided	GPathogenic
Select item 563546	GRCh37/hg19 8p12-11.21(chr8:31352498-41481295)x3	ADGRA2, BAG4 +41 more	Copy number gain	not provided	GPathogenic
Select item 563535	GRCh37/hg19 8p12(chr8:30335124-33770070)x1	UBXN8, TTI2 +13 more	Copy number loss	not provided	GPathogenic
Select item 443715	GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3	ASAH1-AS1, ATP6V1B2 +129 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 443194	GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3	ADAM18, ADAM2 +186 more	Copy number gain	See cases	GPathogenic
Select item 442982	GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3	ADAM28, ADAM7 +123 more	Copy number gain	See cases	GPathogenic
Select item 442330	GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3	ADAM18, ADAM28 +151 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 395721	GRCh37/hg19 8p21.2-12(chr8:24514488-34808438)	ADRA1A, BNIP3L +51 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 394647	GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3	ADAM18, ADAM2 +180 more	Copy number gain	See cases	GPathogenic
Select item 393993	GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3	ADAM18, ADAM2 +133 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Items: 94