4186[HGNC] - ClinVar

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Search results

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 58847	GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1	ACKR3, AGAP1 +393 more	Copy number loss	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	LOC129935966, LOC129935967 +630 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC132088828, LOC132088829 +576 more	Copy number gain	See cases	GPathogenic
Select item 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	LOC129935965, LOC129935966 +455 more	Copy number loss	See cases	GPathogenic
Select item 34724	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	ACKR3, AGAP1 +455 more	Copy number loss	See cases	GPathogenic
Select item 58851	GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1	ACKR3, AGAP1 +361 more	Copy number loss	See cases	GPathogenic
Select item 58852	GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1	RAB17-DT, RAMP1 +359 more	Copy number loss	See cases	GPathogenic
Select item 148337	GRCh38/hg38 2q37.1-37.3(chr2:234058757-239443690)x1	GBX2, GBX2-AS1 +180 more	Copy number loss	See cases	GPathogenic
Select item 154186	GRCh38/hg38 2q37.1-37.3(chr2:234159653-241841232)x1	LOC132090688, LOC132090689 +325 more	Copy number loss	See cases	GPathogenic
Select item 58879	GRCh38/hg38 2q37.1-37.3(chr2:234172536-242086301)x1	LOC126806577, LOC126806578 +334 more	Copy number loss	See cases	GPathogenic
Select item 57457	GRCh38/hg38 2q37.1-37.3(chr2:234345842-242126245)x1	HDAC4, HDAC4-AS1 +334 more	Copy number loss	See cases	GPathogenic
Select item 58880	GRCh38/hg38 2q37.1-37.3(chr2:234668159-242126245)x1	PRLH, PRR21 +325 more	Copy number loss	See cases	GPathogenic
Select item 147967	GRCh38/hg38 2q37.2-37.3(chr2:234835780-242065208)x1	ACKR3, AGAP1 +318 more	Copy number loss	See cases	GPathogenic
Select item 147844	GRCh38/hg38 2q37.2-37.3(chr2:235028429-242066108)x1	ACKR3, AGAP1 +314 more	Copy number loss	See cases	GPathogenic
Select item 59176	GRCh38/hg38 2q37.2-37.3(chr2:235268768-242126245)x3	ACKR3, AGAP1 +311 more	Copy number gain	See cases	GPathogenic
Select item 58882	GRCh38/hg38 2q37.2-37.3(chr2:235268768-242065208)x1	ACKR3, AGAP1 +309 more	Copy number loss	See cases	GPathogenic
Select item 59177	GRCh38/hg38 2q37.2-37.3(chr2:235563664-242086301)x3	ACKR3, AGAP1 +303 more	Copy number gain	See cases	GPathogenic
Select item 147465	GRCh38/hg38 2q37.2-37.3(chr2:235603604-241771051)x1	ACKR3, AGAP1 +288 more	Copy number loss	See cases	GPathogenic
Select item 58883	GRCh38/hg38 2q37.2-37.3(chr2:235741079-242032456)x1	ACKR3, AGAP1 +298 more	Copy number loss	See cases	GPathogenic
Select item 148764	GRCh38/hg38 2q37.2-37.3(chr2:235757098-239443690)x1	ACKR3, AGAP1 +144 more	Copy number loss	See cases	GPathogenic
Select item 153183	GRCh38/hg38 2q37.2-37.3(chr2:235846916-241841232)x1	ACKR3, AGAP1 +288 more	Copy number loss	See cases	GPathogenic
Select item 155528	GRCh38/hg38 2q37.2-37.3(chr2:235927742-236472322)x3	AGAP1, ASB18 +11 more	Copy number gain	See cases	GUncertain significance
Select item 57426	GRCh38/hg38 2q37.2-37.3(chr2:236043791-237379158)x3	ACKR3, AGAP1 +33 more	Copy number gain	See cases	GUncertain significance
Select item 2258556	NM_001485.4(GBX2):c.929C>A (p.Ala310Asp)	GBX2 (A310D)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 780367	NM_001485.4(GBX2):c.777G>A (p.Leu259=)	GBX2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3098956	NM_001485.4(GBX2):c.769G>A (p.Glu257Lys)	GBX2 (E257K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2681292	NM_001485.4(GBX2):c.729T>C (p.Ser243=)	GBX2	Single nucleotide variant (3 prime UTR variant +1 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 3098955	NM_001485.4(GBX2):c.709G>A (p.Ala237Thr)	GBX2 (A237T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3280967	NM_001485.4(GBX2):c.706G>T (p.Gly236Cys)	GBX2 (G236C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3098954	NM_001485.4(GBX2):c.701G>C (p.Ser234Thr)	GBX2 (S234T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3098953	NM_001485.4(GBX2):c.685G>A (p.Glu229Lys)	GBX2 (E229K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2525803	NM_001485.4(GBX2):c.422C>T (p.Ala141Val)	GBX2, GBX2-AS1 (A141V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280968	NM_001485.4(GBX2):c.407G>A (p.Gly136Asp)	GBX2, GBX2-AS1 (G136D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2240026	NM_001485.4(GBX2):c.406G>C (p.Gly136Arg)	GBX2, GBX2-AS1 (G136R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287518	NM_001485.4(GBX2):c.404G>T (p.Gly135Val)	GBX2, GBX2-AS1 (G135V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780874	NM_001485.4(GBX2):c.360G>C (p.Glu120Asp)	GBX2, GBX2-AS1 (E120D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2474869	NM_001485.4(GBX2):c.329G>T (p.Gly110Val)	GBX2, GBX2-AS1 (G110V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280966	NM_001485.4(GBX2):c.315G>A (p.Met105Ile)	GBX2, GBX2-AS1 (M105I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2547024	NM_001485.4(GBX2):c.294G>A (p.Met98Ile)	GBX2, GBX2-AS1 (M98I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292801	NM_001485.4(GBX2):c.290G>C (p.Gly97Ala)	GBX2, GBX2-AS1 (G97A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359871	NM_001485.4(GBX2):c.248T>C (p.Ile83Thr)	GBX2, GBX2-AS1 (I83T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098952	NM_001485.4(GBX2):c.218C>A (p.Ala73Glu)	GBX2, GBX2-AS1 (A73E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098951	NM_001485.4(GBX2):c.164T>C (p.Leu55Pro)	GBX2, GBX2-AS1 (L55P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412500	NM_001485.4(GBX2):c.151C>G (p.Arg51Gly)	GBX2, GBX2-AS1 (R51G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295090	NM_001485.4(GBX2):c.13T>C (p.Phe5Leu)	GBX2, GBX2-AS1 (F5L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242308	GRCh37/hg19 2q37.2-37.3(chr2:236478472-243048854)x1	ACKR3, AGAP1 +60 more	Copy number loss	not provided	GPathogenic
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 3148868	GRCh37/hg19 2q37.1-37.3(chr2:235267074-242782258)x1	ACKR3, AGAP1 +60 more	Copy number loss	See cases	GPathogenic
Select item 3062615	GRCh37/hg19 2q37.2-37.3(chr2:236057846-242783384)x1	ACKR3, AGAP1 +58 more	Copy number loss	not specified	GPathogenic
Select item 3062606	GRCh37/hg19 2q37.2-37.3(chr2:236726690-242783384)x1	ACKR3, AGAP1 +58 more	Copy number loss	not specified	GPathogenic
Select item 2685879	GRCh37/hg19 2q36.2-37.3(chr2:225995545-237594511)x3	ACKR3, AGAP1 +79 more	Copy number gain	not provided	GPathogenic
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2671587	Single allele	CHRND, LRRFIP1 +123 more	Duplication	not provided	GPathogenic
Select item 2425085	NC_000002.11:g.(?_236403331)_(242801596_?)del	ANO7, ACKR3 +59 more	Deletion	Bethlem myopathy 1A	GPathogenic
Select item 1808816	GRCh37/hg19 2q37.2-37.3(chr2:236876804-237470963)x3	AGAP1, ASB18 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1808622	GRCh37/hg19 2q37.2-37.3(chr2:236878509-242783384)x1	ACKR3, AGAP1 +59 more	Copy number loss	not provided	GPathogenic
Select item 1807819	GRCh37/hg19 2q37.2-37.3(chr2:235942616-242783384)x1	ACKR3, AGAP1 +60 more	Copy number loss	not provided	GPathogenic
Select item 1807604	GRCh37/hg19 2q37.1-37.3(chr2:233642145-237654870)x1	ACKR3, AGAP1 +27 more	Copy number loss	not provided	GUncertain significance
Select item 1703652	GRCh37/hg19 2q37.2-37.3(chr2:236472789-242783384)	HES6, ILKAP +58 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 1703651	GRCh37/hg19 2q37.1-37.3(chr2:233227837-242783384)	CHRND, CHRNG +93 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
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 1526953	GRCh37/hg19 2q35-37.3(chr2:219606537-239217703)	FBXO36, UGT1A5 +147 more	Copy number loss	not specified	GPathogenic
Select item 1371785	NC_000002.11:g.(?_236403331)_(242801596_?)dup	ACKR3, AGAP1 +59 more	Duplication	not provided	GUncertain significance
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 981208	GRCh37/hg19 2q37.1-37.3(chr2:233110452-243028452)x1	DTYMK, DUSP28 +96 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 980014	GRCh37/hg19 2q37.2(chr2:236912262-237180519)x3	ASB18, AGAP1 +1 more	Copy number gain	not provided	GLikely benign
Select item 816588	GRCh37/hg19 2q37.2-37.3(chr2:236172348-241611309)x1	ACKR3, AGAP1 +37 more	Copy number loss	not provided	GPathogenic
Select item 816585	GRCh37/hg19 2q37.1-37.3(chr2:234791927-242783384)x1	ACKR3, AGAP1 +63 more	Copy number loss	not provided	GPathogenic
Select item 816583	GRCh37/hg19 2q37.1-37.3(chr2:234090049-239494702)x1	RAB17, ASB1 +41 more	Copy number loss	not provided	GPathogenic
Select item 816582	GRCh37/hg19 2q36.3-37.3(chr2:230814690-242783384)x3	ACKR3, AGAP1 +119 more	Copy number gain	not provided	GPathogenic
Select item 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	GPathogenic
Select item 625779	GRCh37/hg19 2q37.2-37.3(chr2:237028693-242708080)	OR6B2, PASK +56 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 562681	GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3	ABCB6, ACKR3 +183 more	Copy number gain	not provided	GPathogenic
Select item 562672	GRCh37/hg19 2q37.1-37.3(chr2:234716425-242783384)x3	ACKR3, AGAP1 +65 more	Copy number gain	not provided	GPathogenic
Select item 562671	GRCh37/hg19 2q37.2-37.3(chr2:235790256-242783384)x1	AQP12B, ASB1 +59 more	Copy number loss	not provided	GPathogenic
Select item 443896	GRCh37/hg19 2q37.1-37.3(chr2:235539337-242783384)x1	ACKR3, AGAP1 +59 more	Copy number loss	See cases	GPathogenic
Select item 443370	GRCh37/hg19 2q37.1-37.3(chr2:234495262-242783384)x1	ACKR3, AGAP1 +74 more	Copy number loss	See cases	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 442941	GRCh37/hg19 2q37.2-37.3(chr2:235791354-237594511)x1	ACKR3, AGAP1 +4 more	Copy number loss	See cases	GUncertain significance
Select item 442425	GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3	UGT1A8, UGT1A9 +113 more	Copy number gain	See cases	GPathogenic
Select item 442002	GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	AAMP, ABCA12 +225 more	Copy number gain	See cases	GPathogenic
Select item 395404	GRCh37/hg19 2q37.1-37.3(chr2:233784243-243040217)x1	ACKR3, AGAP1 +82 more	Copy number loss	See cases	GPathogenic
Select item 394312	GRCh37/hg19 2q37.2(chr2:236603963-237076525)x3	AGAP1, GBX2	Copy number gain	See cases	GLikely benign

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Items: 90