13206[HGNC] - ClinVar

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Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146015	GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1	ABI2, ALS2 +279 more	Copy number loss	See cases	GPathogenic
Select item 146362	GRCh38/hg38 2q33.1(chr2:197400023-202089348)x1	ALS2, AOX1 +145 more	Copy number loss	See cases	GLikely pathogenic
Select item 147402	GRCh38/hg38 2q33.1(chr2:198767347-202353840)x1	ALS2, AOX1 +117 more	Copy number loss	See cases	GPathogenic
Select item 155234	GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1	ABI2, ADAM23 +298 more	Copy number loss	See cases	GPathogenic
Select item 152538	GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1	ABI2, ADAM23 +293 more	Copy number loss	See cases	GPathogenic
Select item 2331480	NM_015049.3(TRAK2):c.2739G>C (p.Glu913Asp)	TRAK2 (E913D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181836	NM_015049.3(TRAK2):c.2696C>T (p.Ala899Val)	TRAK2 (A899V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388119	NM_015049.3(TRAK2):c.2675T>G (p.Val892Gly)	TRAK2 (V892G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328457	NM_015049.3(TRAK2):c.2671C>T (p.Pro891Ser)	TRAK2 (P891S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354387	NM_015049.3(TRAK2):c.2612C>T (p.Ala871Val)	TRAK2 (A871V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1335437	NM_015049.3(TRAK2):c.2596C>T (p.Gln866Ter)	TRAK2 (Q866*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 2273879	NM_015049.3(TRAK2):c.2537T>A (p.Val846Glu)	TRAK2 (V846E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621198	NM_015049.3(TRAK2):c.2498A>T (p.Asn833Ile)	TRAK2 (N833I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263971	NM_015049.3(TRAK2):c.2419C>A (p.Pro807Thr)	TRAK2 (P807T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328462	NM_015049.3(TRAK2):c.2348A>G (p.His783Arg)	TRAK2 (H783R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181835	NM_015049.3(TRAK2):c.2315C>T (p.Ala772Val)	TRAK2 (A772V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181834	NM_015049.3(TRAK2):c.2243G>A (p.Arg748Gln)	TRAK2 (R748Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328459	NM_015049.3(TRAK2):c.2123C>G (p.Thr708Arg)	TRAK2 (T708R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181832	NM_015049.3(TRAK2):c.2104G>A (p.Gly702Ser)	TRAK2 (G702S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2744220	NM_015049.3(TRAK2):c.2070-6_2070-4del	TRAK2	Deletion (intron variant)	not provided	GBenign
Select item 2776125	NM_015049.3(TRAK2):c.2070-15_2070-14insC	TRAK2	Insertion (intron variant)	not provided	GLikely benign
Select item 2302274	NM_015049.3(TRAK2):c.2053A>C (p.Thr685Pro)	TRAK2 (T685P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181831	NM_015049.3(TRAK2):c.2050A>G (p.Ile684Val)	TRAK2 (I684V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510099	NM_015049.3(TRAK2):c.1969A>C (p.Thr657Pro)	TRAK2 (T657P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247731	NM_015049.3(TRAK2):c.1921A>G (p.Ile641Val)	TRAK2 (I641V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246320	NM_015049.3(TRAK2):c.1863G>C (p.Gln621His)	TRAK2 (Q621H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597456	NM_015049.3(TRAK2):c.1799C>T (p.Pro600Leu)	TRAK2 (P600L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181830	NM_015049.3(TRAK2):c.1787T>G (p.Phe596Cys)	TRAK2 (F596C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270687	NM_015049.3(TRAK2):c.1784G>C (p.Gly595Ala)	TRAK2 (G595A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181829	NM_015049.3(TRAK2):c.1782A>C (p.Lys594Asn)	TRAK2 (K594N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412411	NM_015049.3(TRAK2):c.1763G>A (p.Arg588Gln)	TRAK2 (R588Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181827	NM_015049.3(TRAK2):c.1688C>A (p.Pro563His)	TRAK2 (P563H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375671	NM_015049.3(TRAK2):c.1525C>T (p.Arg509Trp)	TRAK2 (R509W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355723	NM_015049.3(TRAK2):c.1510G>A (p.Ala504Thr)	TRAK2 (A504T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767841	NM_015049.3(TRAK2):c.1506C>T (p.Phe502=)	TRAK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3328458	NM_015049.3(TRAK2):c.1465C>G (p.Leu489Val)	TRAK2 (L489V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220320	NM_015049.3(TRAK2):c.1387G>A (p.Glu463Lys)	TRAK2 (E463K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778016	NM_015049.3(TRAK2):c.1362C>T (p.Leu454=)	TRAK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2558090	NM_015049.3(TRAK2):c.1301G>A (p.Ser434Asn)	TRAK2 (S434N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560717	NM_015049.3(TRAK2):c.1295G>A (p.Arg432His)	TRAK2 (R432H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2403936	NM_015049.3(TRAK2):c.1250G>A (p.Arg417His)	TRAK2 (R417H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376971	NM_015049.3(TRAK2):c.1235A>G (p.Asn412Ser)	TRAK2 (N412S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181826	NM_015049.3(TRAK2):c.1199A>G (p.Gln400Arg)	TRAK2 (Q400R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779409	NM_015049.3(TRAK2):c.1193+3A>G	TRAK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2356404	NM_015049.3(TRAK2):c.1168G>A (p.Glu390Lys)	TRAK2 (E390K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328461	NM_015049.3(TRAK2):c.1165G>A (p.Asp389Asn)	TRAK2 (D389N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181825	NM_015049.3(TRAK2):c.1051C>T (p.Arg351Cys)	TRAK2 (R351C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703164	NM_015049.3(TRAK2):c.980A>T (p.His327Leu)	TRAK2 (H327L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2524120	NM_015049.3(TRAK2):c.959G>A (p.Arg320Gln)	TRAK2 (R320Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181845	NM_015049.3(TRAK2):c.953C>T (p.Ala318Val)	TRAK2 (A318V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181843	NM_015049.3(TRAK2):c.781G>T (p.Ala261Ser)	TRAK2 (A261S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181842	NM_015049.3(TRAK2):c.616G>C (p.Gly206Arg)	TRAK2 (G206R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181841	NM_015049.3(TRAK2):c.595G>A (p.Glu199Lys)	TRAK2 (E199K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181840	NM_015049.3(TRAK2):c.532G>A (p.Val178Ile)	TRAK2 (V178I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339916	NM_015049.3(TRAK2):c.524T>C (p.Leu175Pro)	TRAK2 (L175P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181839	NM_015049.3(TRAK2):c.464G>A (p.Gly155Glu)	TRAK2 (G155E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181838	NM_015049.3(TRAK2):c.415C>T (p.Arg139Trp)	TRAK2 (R139W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230569	NM_015049.3(TRAK2):c.392G>A (p.Arg131Gln)	TRAK2 (R131Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597258	NM_015049.3(TRAK2):c.320A>G (p.Lys107Arg)	TRAK2 (K107R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388236	NM_015049.3(TRAK2):c.277C>T (p.Arg93Cys)	TRAK2 (R93C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328454	NM_015049.3(TRAK2):c.222C>G (p.His74Gln)	TRAK2 (H74Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463231	NM_015049.3(TRAK2):c.211C>G (p.Gln71Glu)	TRAK2 (Q71E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181828	NM_015049.3(TRAK2):c.173T>C (p.Val58Ala)	TRAK2 (V58A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328455	NM_015049.3(TRAK2):c.158A>G (p.Gln53Arg)	TRAK2 (Q53R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328456	NM_015049.3(TRAK2):c.134G>A (p.Ser45Asn)	TRAK2 (S45N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406501	NM_015049.3(TRAK2):c.101C>G (p.Ser34Cys)	TRAK2 (S34C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551018	NM_015049.3(TRAK2):c.81G>C (p.Glu27Asp)	TRAK2 (E27D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062594	GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1	ABI2, ACADL +95 more	Copy number loss	not specified	GPathogenic
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2423982	NC_000002.11:g.(?_201943606)_(204824322_?)dup	ABI2, ALS2 +25 more	Duplication	Autoimmune lymphoproliferative syndrome type 2B +1 more	GUncertain significance
Select item 1808483	GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1	ABI2, ADAM23 +107 more	Copy number loss	not provided	GPathogenic
Select item 1704349	GRCh37/hg19 2q33.1(chr2:201838259-202711243)x3	ALS2, C2CD6 +11 more	Copy number gain	CYSTIC HYGROMA, VSD	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1703524	GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)	ABI2, ACADL +127 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1526943	GRCh37/hg19 2q33.1-34(chr2:200851079-209054267)	ABI2, ADAM23 +58 more	Copy number loss	not specified	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1456057	NC_000002.11:g.(?_201943606)_(204824322_?)del	ABI2, ALS2 +25 more	Deletion	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency +2 more	GPathogenic
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 979397	GRCh37/hg19 2q33.1(chr2:202011822-202749788)x1	ALS2, C2CD6 +9 more	Copy number loss	not provided	GUncertain significance
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 813263	Single allele	ABI2, ALS2 +35 more	Deletion	Pulmonary arterial hypertension	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 562676	GRCh37/hg19 2q32.2-33.1(chr2:191750202-202297376)x1	ANKRD44, AOX1 +45 more	Copy number loss	not provided	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 253679	GRCh37/hg19 2q33.1(chr2:200776457-203070949)x3	ALS2, AOX1 +25 more	Copy number gain	See cases	GUncertain significance

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Items: 94