ClinVar for Gene (Select 4145) - ClinVar

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Links from Gene

Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3293449	NM_139355.3(MATK):c.212A>C (p.Lys71Thr)	MATK (K72T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293448	NM_139355.3(MATK):c.1415G>A (p.Arg472His)	MATK (R431H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248515	NC_000019.9:g.(?_2430909)_(4171966_?)del	GIPC3, LMNB2 +42 more	Deletion	RASopathy	GUncertain significance
Select item 3123946	NM_139355.3(MATK):c.634C>T (p.Arg212Trp)	MATK (R171W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123945	NM_139355.3(MATK):c.457C>G (p.Pro153Ala)	MATK (P153A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123944	NM_139355.3(MATK):c.451C>T (p.Arg151Cys)	MATK (R151C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123943	NM_139355.3(MATK):c.337G>A (p.Ala113Thr)	MATK (A114T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3123941	NM_139355.3(MATK):c.1363G>A (p.Val455Ile)	MATK (V456I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123940	NM_139355.3(MATK):c.106C>A (p.Pro36Thr)	MATK, LOC121852973 (P37T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062389	GRCh37/hg19 19p13.3(chr19:3788725-4881494)x1	EBI3, EEF2 +30 more	Copy number loss	not specified	GUncertain significance
Select item 3062379	GRCh37/hg19 19p13.3(chr19:3794098-4036681)x1	ATCAY, DAPK3 +5 more	Copy number loss	not specified	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	UBXN6, UHRF1 +202 more	Copy number gain	not provided	GPathogenic
Select item 2618473	NM_139355.3(MATK):c.1487C>A (p.Ala496Asp)	MATK (A497D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614360	NM_139355.3(MATK):c.919G>A (p.Val307Met)	MATK (V266M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611947	NM_139355.3(MATK):c.523G>A (p.Asp175Asn)	MATK (D175N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605919	NM_139355.3(MATK):c.943T>C (p.Phe315Leu)	MATK (F316L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549931	NM_139355.3(MATK):c.107C>G (p.Pro36Arg)	LOC121852973, MATK (P37R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548869	NM_139355.3(MATK):c.956G>A (p.Arg319Gln)	MATK (R320Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548868	NM_139355.3(MATK):c.1519C>T (p.Pro507Ser)	MATK (P466S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533814	NM_139355.3(MATK):c.496G>A (p.Val166Ile)	MATK (V125I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	ARID3A, ARRDC5 +151 more	Duplication	not provided	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 2391627	NM_139355.3(MATK):c.1396G>A (p.Ala466Thr)	MATK (A467T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383704	NM_139355.3(MATK):c.208C>T (p.Arg70Cys)	MATK (R29C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380590	NM_139355.3(MATK):c.1195G>A (p.Gly399Arg)	MATK (G358R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374480	NM_139355.3(MATK):c.559T>A (p.Cys187Ser)	MATK (C187S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373785	NM_139355.3(MATK):c.131C>T (p.Thr44Met)	LOC121852973, MATK (T3M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336135	NM_139355.3(MATK):c.706A>T (p.Thr236Ser)	MATK (T237S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335452	NM_139355.3(MATK):c.884T>A (p.Ile295Asn)	MATK (I295N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328030	NM_139355.3(MATK):c.1162G>A (p.Val388Ile)	MATK (V389I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268536	NM_139355.3(MATK):c.500T>C (p.Ile167Thr)	MATK (I167T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266010	NM_139355.3(MATK):c.470T>A (p.Val157Asp)	MATK (V158D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247697	NM_139355.3(MATK):c.1492G>A (p.Gly498Ser)	MATK (G457S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239768	NM_139355.3(MATK):c.287A>G (p.Gln96Arg)	MATK (Q96R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217018	NM_139355.3(MATK):c.521G>A (p.Arg174His)	MATK (R133H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1340547	GRCh37/hg19 19p13.3(chr19:3501624-5357124)x1	ANKRD24, APBA3 +46 more	Copy number loss	not provided	GPathogenic
Select item 1340292	GRCh37/hg19 19p13.3(chr19:3788725-4225547)x1	ANKRD24, ATCAY +10 more	Copy number loss	not provided	GUncertain significance
Select item 1037962	NC_000019.9:g.(?_3762699)_(3808981_?)del	MATK, MRPL54 +2 more	Deletion	not provided	GPathogenic
Select item 816518	GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	ABCA7, ABHD17A +138 more	Copy number gain	See cases	GPathogenic
Select item 785911	NM_139355.3(MATK):c.1395C>T (p.Pro465=)	MATK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 768956	NM_002378.4(MATK):c.25C>T (p.Arg9Ter)	LOC129391032, MATK (R9*)	Single nucleotide variant (nonsense)	not provided	GBenign
Select item 747662	NM_139355.3(MATK):c.459C>T (p.Pro153=)	MATK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 746469	NM_139355.3(MATK):c.102C>T (p.His34=)	LOC121852973, MATK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 686923	GRCh37/hg19 19p13.3(chr19:3132909-3907470)x3	APBA3, ATCAY +20 more	Copy number gain	not provided	GUncertain significance
Select item 686280	GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	ABCA7, ABHD17A +147 more	Copy number gain	not provided	GPathogenic
Select item 635915	Single allele	SMIM24, SPPL2B +50 more	Deletion	Internal malformations	GUncertain significance
Select item 625734	GRCh37/hg19 19p13.3(chr19:3076808-4796782)	ANKRD24, APBA3 +48 more	Copy number loss	not provided	GPathogenic
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 549647	Single allele	CREB3L3, SHD +28 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 395025	GRCh37/hg19 19p13.3(chr19:3783813-3834742)x3	MATK, ZFR2	Copy number gain	See cases	GUncertain significance
Select item 394387	GRCh37/hg19 19p13.3(chr19:3801763-3834742)x3	MATK, ZFR2	Copy number gain	See cases	Gconflicting data from submitters
Select item 155547	GRCh38/hg38 19p13.3(chr19:3788727-5147354)x1	ANKRD24, ARRDC5 +150 more	Copy number loss	See cases	GLikely pathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	See cases	GPathogenic
Select item 148645	GRCh38/hg38 19p13.3(chr19:3080621-4912622)x3	ANKRD24, APBA3 +223 more	Copy number gain	See cases	GLikely pathogenic
Select item 146498	GRCh38/hg38 19p13.3(chr19:3437996-4039217)x1	APBA3, ATCAY +71 more	Copy number loss	See cases	GPathogenic
Select item 145414	GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1	ABHD17A, ADAT3 +387 more	Copy number loss	See cases	GPathogenic
Select item 145080	GRCh38/hg38 19p13.3(chr19:3338024-4833139)x1	LOC121852974, LOC125371451 +193 more	Copy number loss	See cases	GPathogenic
Select item 60071	GRCh38/hg38 19p13.3(chr19:3554635-4690965)x1	PIP5K1C, PLIN4 +142 more	Copy number loss	See cases	GPathogenic
Select item 60070	GRCh38/hg38 19p13.3(chr19:2926238-4051635)x1	APBA3, ATCAY +121 more	Copy number loss	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063246, LOC130063247 +810 more	Copy number gain	See cases	GPathogenic
Select item 59081	GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3	ABHD17A, ADAT3 +362 more	Copy number gain	See cases	GPathogenic
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC116276498, LOC121627842 +687 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 64