18079[HGNC] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 59931	GRCh38/hg38 1p35.2-35.1(chr1:30766758-33359428)x1	A3GALT2, ADGRB2 +214 more	Copy number loss	See cases	GPathogenic
Select item 2559895	NM_018207.3(TRIM62):c.1421G>A (p.Arg474His)	AZIN2, TRIM62 +1 more (R474H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775532	NM_018207.3(TRIM62):c.1417G>A (p.Val473Ile)	AZIN2, TRIM62 +1 more (V473I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3182647	NM_018207.3(TRIM62):c.1400C>T (p.Pro467Leu)	AZIN2, TRIM62 +1 more (P467L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328868	NM_018207.3(TRIM62):c.1325G>A (p.Arg442His)	AZIN2, TRIM62 +1 more (R321H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182646	NM_018207.3(TRIM62):c.1289A>G (p.Tyr430Cys)	AZIN2, TRIM62 +1 more (Y309C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182645	NM_018207.3(TRIM62):c.1274G>T (p.Gly425Val)	AZIN2, TRIM62 +1 more (G304V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328869	NM_018207.3(TRIM62):c.1150C>T (p.Arg384Cys)	AZIN2, TRIM62 +1 more (R384C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508287	NM_018207.3(TRIM62):c.1105C>A (p.His369Asn)	AZIN2, TRIM62 +1 more (H248N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362685	NM_018207.3(TRIM62):c.1003G>A (p.Asp335Asn)	AZIN2, TRIM62 +1 more (D214N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727193	NM_018207.3(TRIM62):c.1002C>T (p.Phe334=)	AZIN2, TRIM62 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3328871	NM_018207.3(TRIM62):c.985G>C (p.Asp329His)	AZIN2, TRIM62 +1 more (D329H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592888	NM_018207.3(TRIM62):c.902C>T (p.Pro301Leu)	TRIM62, AZIN2 +1 more (P301L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256092	NM_018207.3(TRIM62):c.752T>C (p.Leu251Pro)	AZIN2, TRIM62 +1 more (L130P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328867	NM_018207.3(TRIM62):c.722G>A (p.Arg241Gln)	AZIN2, TRIM62 +1 more (R241Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344883	NM_018207.3(TRIM62):c.718G>A (p.Asp240Asn)	AZIN2, TRIM62 +1 more (D119N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781661	NM_018207.3(TRIM62):c.702G>A (p.Glu234=)	AZIN2, TRIM62 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 727194	NM_018207.3(TRIM62):c.633C>T (p.Ile211=)	AZIN2, TRIM62 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 746594	NM_018207.3(TRIM62):c.621G>A (p.Thr207=)	AZIN2, TRIM62 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3328866	NM_018207.3(TRIM62):c.620C>T (p.Thr207Met)	AZIN2, TRIM62 +1 more (T207M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182652	NM_018207.3(TRIM62):c.617G>A (p.Arg206His)	AZIN2, TRIM62 +1 more (R85H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512581	NM_018207.3(TRIM62):c.616C>T (p.Arg206Cys)	AZIN2, TRIM62 +1 more (R206C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182651	NM_018207.3(TRIM62):c.595G>A (p.Glu199Lys)	AZIN2, TRIM62 +1 more (E199K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254473	NM_018207.3(TRIM62):c.575G>A (p.Arg192His)	AZIN2, TRIM62 +1 more (R192H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 741382	NM_018207.3(TRIM62):c.523C>A (p.Arg175=)	AZIN2, TRIM62 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2594502	NM_018207.3(TRIM62):c.482A>G (p.Lys161Arg)	AZIN2, TRIM62 +1 more (K40R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257234	NM_018207.3(TRIM62):c.467C>T (p.Ala156Val)	AZIN2, TRIM62 +1 more (A156V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328865	NM_018207.3(TRIM62):c.452G>A (p.Arg151Gln)	AZIN2, TRIM62 +1 more (R151Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638617	NM_018207.3(TRIM62):c.408+4599G>A	TRIM62, ZNF362	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3182650	NM_018207.3(TRIM62):c.356T>C (p.Leu119Pro)	TRIM62, ZNF362 (L119P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290603	NM_018207.3(TRIM62):c.349C>T (p.Pro117Ser)	TRIM62, ZNF362 (P117S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182649	NM_018207.3(TRIM62):c.329T>C (p.Leu110Pro)	TRIM62, ZNF362 (L110P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534847	NM_018207.3(TRIM62):c.161G>C (p.Arg54Pro)	TRIM62, ZNF362 (R54P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328870	NM_018207.3(TRIM62):c.139G>A (p.Ala47Thr)	TRIM62, ZNF362 (A47T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387437	NM_018207.3(TRIM62):c.135G>C (p.Gln45His)	TRIM62, ZNF362 (Q45H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328872	NM_018207.3(TRIM62):c.70C>A (p.Leu24Met)	TRIM62, ZNF362 (L24M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182653	NM_018207.3(TRIM62):c.68G>A (p.Ser23Asn)	TRIM62, ZNF362 (S23N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2624104	NM_152493.3(ZNF362):c.185C>T (p.Ser62Leu)	ZNF362 (S62L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252331	NM_152493.3(ZNF362):c.191C>T (p.Ser64Leu)	ZNF362 (S64L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299950	NM_152493.3(ZNF362):c.226G>A (p.Ala76Thr)	ZNF362 (A76T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526040	NM_152493.3(ZNF362):c.237C>G (p.Ser79Arg)	ZNF362 (S79R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219336	NM_152493.3(ZNF362):c.244G>A (p.Val82Ile)	ZNF362 (V82I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262157	NM_152493.3(ZNF362):c.431C>T (p.Thr144Ile)	ZNF362 (T144I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588829	NM_152493.3(ZNF362):c.605C>T (p.Pro202Leu)	ZNF362 (P202L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464952	NM_152493.3(ZNF362):c.611G>T (p.Gly204Val)	ZNF362 (G204V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195390	NM_152493.3(ZNF362):c.799G>A (p.Ala267Thr)	ZNF362 (A267T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335598	NM_152493.3(ZNF362):c.967A>G (p.Thr323Ala)	ZNF362 (T323A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195389	NM_152493.3(ZNF362):c.1223C>T (p.Thr408Met)	ZNF362 (T408M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638618	NM_152493.3(ZNF362):c.1233C>T (p.Pro411=)	ZNF362	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2374081	NM_152493.3(ZNF362):c.1234G>C (p.Gly412Arg)	ZNF362 (G412R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260695	NM_152493.3(ZNF362):c.1255C>T (p.Leu419Phe)	ZNF362 (L419F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 814067	GRCh37/hg19 1p35.2-35.1(chr1:30819875-34380419)x3	TMEM54, RBBP4 +51 more	Copy number gain	not provided	GLikely pathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 625764	GRCh37/hg19 1p35.1-34.3(chr1:32859415-36454915)	YARS1, ZBTB8A +41 more	Copy number loss	not provided	GPathogenic
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 61