ClinVar for Gene (Select 79781) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2652036	NM_024726.5(IQCA1):c.979G>C (p.Ala327Pro)	IQCA1, LOC126806570 (A327P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2622402	NM_024726.5(IQCA1):c.620C>A (p.Thr207Asn)	IQCA1 (T207N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2615684	NM_024726.5(IQCA1):c.139G>A (p.Val47Ile)	IQCA1 (V47I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2609633	NM_024726.5(IQCA1):c.2204C>T (p.Ala735Val)	IQCA1 (A694V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2604146	NM_024726.5(IQCA1):c.1682T>G (p.Val561Gly)	IQCA1 (V520G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2553357	NM_024726.5(IQCA1):c.1981C>A (p.His661Asn)	IQCA1 (H620N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2552727	NM_024726.5(IQCA1):c.2187G>C (p.Leu729Phe)	IQCA1 (L688F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2538977	NM_024726.5(IQCA1):c.73C>G (p.Pro25Ala)	IQCA1 (P32A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2524415	NM_024726.5(IQCA1):c.961G>A (p.Val321Ile)	IQCA1, LOC126806570 (V328I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2523578	NM_024726.5(IQCA1):c.514G>A (p.Glu172Lys)	IQCA1 (E172K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2511729	NM_024726.5(IQCA1):c.2120A>G (p.Tyr707Cys)	IQCA1 (Y666C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2508817	NM_024726.5(IQCA1):c.1591C>T (p.Arg531Cys)	IQCA1 (R539C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2486297	NM_024726.5(IQCA1):c.2417C>T (p.Ala806Val)	IQCA1 (A765V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2476378	NM_024726.5(IQCA1):c.1267C>G (p.Leu423Val)	IQCA1, IQCA1-AS1 +1 more (L423V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2458616	NM_024726.5(IQCA1):c.2279G>A (p.Arg760Gln)	IQCA1 (R760Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2425085	NC_000002.11:g.(?_236403331)_(242801596_?)del	ACKR3, AGAP1 +59 more	Deletion	Bethlem myopathy 1A	GPathogenic
Select item 2394128	NM_024726.5(IQCA1):c.871G>A (p.Val291Met)	IQCA1 (V298M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2363695	NM_024726.5(IQCA1):c.428C>T (p.Ala143Val)	IQCA1 (A143V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2350202	NM_024726.5(IQCA1):c.1613T>C (p.Met538Thr)	IQCA1 (M497T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2345988	NM_024726.5(IQCA1):c.694G>A (p.Glu232Lys)	IQCA1 (E239K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2338347	NM_024726.5(IQCA1):c.2281C>T (p.Arg761Trp)	IQCA1 (R761W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2334982	NM_024726.5(IQCA1):c.620C>T (p.Thr207Ile)	IQCA1 (T214I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2332903	NM_024726.5(IQCA1):c.2355G>C (p.Glu785Asp)	IQCA1 (E744D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2330690	NM_024726.5(IQCA1):c.2359G>A (p.Glu787Lys)	IQCA1 (E795K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2327639	NM_024726.5(IQCA1):c.1514A>G (p.Glu505Gly)	IQCA1 (E464G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2321932	NM_024726.5(IQCA1):c.1763T>A (p.Ile588Asn)	IQCA1 (I588N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2317711	NM_024726.5(IQCA1):c.1625T>C (p.Leu542Pro)	IQCA1 (L501P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2294855	NM_024726.5(IQCA1):c.937G>A (p.Gly313Arg)	IQCA1 (G313R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2291180	NM_024726.5(IQCA1):c.896A>T (p.Asp299Val)	IQCA1 (D299V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2270385	NM_024726.5(IQCA1):c.2195G>A (p.Ser732Asn)	IQCA1 (S732N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2265655	NM_024726.5(IQCA1):c.287C>A (p.Thr96Lys)	IQCA1 (T103K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2261253	NM_024726.5(IQCA1):c.880A>G (p.Lys294Glu)	IQCA1 (K301E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2257939	NM_024726.5(IQCA1):c.206G>A (p.Arg69Gln)	IQCA1 (R69Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2241437	NM_024726.5(IQCA1):c.2411C>G (p.Ala804Gly)	IQCA1 (A763G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2240440	NM_024726.5(IQCA1):c.1504C>G (p.Leu502Val)	IQCA1 (L461V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2203886	NM_024726.5(IQCA1):c.1877G>A (p.Arg626Gln)	IQCA1 (R626Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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)	ACKR3, AGAP1 +59 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 1703651	GRCh37/hg19 2q37.1-37.3(chr2:233227837-242783384)	ACKR3, AGAP1 +94 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 997810	Single allele	D2HGDH, DTYMK +57 more	Deletion	Intellectual disability	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 981208	GRCh37/hg19 2q37.1-37.3(chr2:233110452-243028452)x1	KCNJ13, NGEF +97 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 816591	GRCh37/hg19 2q37.2-37.3(chr2:237236732-237354843)x1	IQCA1	Copy number loss	not provided	GUncertain significance
Select item 816590	GRCh37/hg19 2q37.2-37.3(chr2:237109613-237962213)x3	ASB18, ACKR3 +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 814375	GRCh37/hg19 2q37.2-37.3(chr2:237265271-237865834)x3	ACKR3, IQCA1	Copy number gain	not provided	GLikely benign
Select item 814374	GRCh37/hg19 2q37.2-37.3(chr2:237265271-242783384)x3	ACKR3, AGXT +56 more	Copy number gain	not provided	GPathogenic
Select item 689087	GRCh37/hg19 2q37.2-37.3(chr2:237147543-237400898)x3	ASB18, IQCA1	Copy number gain	not provided	GUncertain significance
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)	ACKR3, AGAP1 +57 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 +60 more	Copy number loss	See cases	GPathogenic
Select item 443370	GRCh37/hg19 2q37.1-37.3(chr2:234495262-242783384)x1	ACKR3, AGAP1 +75 more	Copy number loss	See cases	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +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	ACKR3, ACSL3 +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 +83 more	Copy number loss	See cases	GPathogenic
Select item 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	UGT1A6, UGT1A7 +455 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 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	AAMP, ABCB6 +986 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	ABCA12, ABCB6 +1687 more	Copy number gain	See cases	GPathogenic
Select item 154186	GRCh38/hg38 2q37.1-37.3(chr2:234159653-241841232)x1	ACKR3, AGAP1 +325 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 151463	GRCh38/hg38 2q37.2-37.3(chr2:236382349-237002439)x4	ACKR3, COPS8-DT +16 more	Copy number gain	See cases	GLikely benign
Select item 151026	GRCh38/hg38 2q37.3(chr2:236413722-242126251)x1	ACKR3, AGXT +287 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 148337	GRCh38/hg38 2q37.1-37.3(chr2:234058757-239443690)x1	ACKR3, AGAP1 +180 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	LOC129935986, LOC129935987 +314 more	Copy number loss	See cases	GPathogenic
Select item 147465	GRCh38/hg38 2q37.2-37.3(chr2:235603604-241771051)x1	LOC126806573, LOC126806574 +288 more	Copy number loss	See cases	GPathogenic
Select item 146848	GRCh38/hg38 2q37.2-37.3(chr2:236224888-236827745)x3	ACKR3, ASB18 +14 more	Copy number gain	See cases	GLikely benign
Select item 146836	GRCh38/hg38 2q37.2-37.3(chr2:236180530-237034528)x3	ACKR3, ASB18 +18 more	Copy number gain	See cases	GLikely benign
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	OR6B3, OTOS +1148 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC132088830, LOC132088831 +576 more	Copy number gain	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 59176	GRCh38/hg38 2q37.2-37.3(chr2:235268768-242126245)x3	LOC129936018, LOC129936019 +311 more	Copy number gain	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	ACKR3, AGAP1 +630 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	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 58882	GRCh38/hg38 2q37.2-37.3(chr2:235268768-242065208)x1	ACKR3, AGAP1 +309 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

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