19005[HGNC] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 57769	GRCh38/hg38 3p22.3-22.2(chr3:32322382-36775606)x1	ARPP21, ARPP21-AS1 +87 more	Copy number loss	See cases	GPathogenic
Select item 57770	GRCh38/hg38 3p22.3-22.2(chr3:33062199-36829440)x1	ARPP21, ARPP21-AS1 +54 more	Copy number loss	See cases	GPathogenic
Select item 145586	GRCh38/hg38 3p22.3-22.1(chr3:33728406-40662451)x3	ACAA1, ACVR2B +176 more	Copy number gain	See cases	GPathogenic
Select item 3080511	NM_001394672.2(DCLK3):c.2410C>T (p.His804Tyr)	DCLK3 (H804Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080510	NM_001394672.2(DCLK3):c.2389G>C (p.Val797Leu)	DCLK3 (V797L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224221	NM_001394672.2(DCLK3):c.2282G>A (p.Arg761Gln)	DCLK3 (R592Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245112	NM_001394672.2(DCLK3):c.2054C>T (p.Thr685Ile)	DCLK3 (T516I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080509	NM_001394672.2(DCLK3):c.2026G>T (p.Val676Leu)	DCLK3 (V507L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518321	NM_001394672.2(DCLK3):c.1882A>G (p.Met628Val)	DCLK3 (M628V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464025	NM_001394672.2(DCLK3):c.1876A>G (p.Met626Val)	DCLK3 (M457V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080508	NM_001394672.2(DCLK3):c.1759C>T (p.His587Tyr)	DCLK3 (H418Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080507	NM_001394672.2(DCLK3):c.1675T>A (p.Ser559Thr)	DCLK3 (S390T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387137	NM_001394672.2(DCLK3):c.1534C>T (p.Arg512Trp)	DCLK3 (R512W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592968	NM_001394672.2(DCLK3):c.1526G>A (p.Arg509Gln)	DCLK3 (R340Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258120	NM_001394672.2(DCLK3):c.1514G>A (p.Arg505Gln)	DCLK3 (R505Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080520	NM_001394672.2(DCLK3):c.1469T>C (p.Leu490Pro)	DCLK3 (L321P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476699	NM_001394672.2(DCLK3):c.1457A>C (p.Gln486Pro)	DCLK3 (Q486P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080519	NM_001394672.2(DCLK3):c.1327G>A (p.Gly443Ser)	DCLK3 (G443S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080518	NM_001394672.2(DCLK3):c.1325G>T (p.Gly442Val)	DCLK3 (G273V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080517	NM_001394672.2(DCLK3):c.1214C>T (p.Ala405Val)	DCLK3 (A405V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475564	NM_001394672.2(DCLK3):c.1082C>A (p.Ala361Glu)	DCLK3 (A192E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290261	NM_001394672.2(DCLK3):c.1010A>C (p.Lys337Thr)	DCLK3 (K337T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216767	NM_001394672.2(DCLK3):c.968G>A (p.Arg323His)	DCLK3 (R154H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080516	NM_001394672.2(DCLK3):c.886G>T (p.Val296Leu)	DCLK3 (V127L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080515	NM_001394672.2(DCLK3):c.859C>A (p.His287Asn)	DCLK3 (H118N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080514	NM_001394672.2(DCLK3):c.829C>T (p.Pro277Ser)	DCLK3 (P277S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080513	NM_001394672.2(DCLK3):c.827A>G (p.Lys276Arg)	DCLK3 (K107R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080512	NM_001394672.2(DCLK3):c.818C>T (p.Pro273Leu)	DCLK3 (P104L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404811	NM_001394672.2(DCLK3):c.773C>T (p.Ala258Val)	DCLK3 (A89V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2342674	NM_001394672.2(DCLK3):c.748G>A (p.Glu250Lys)	DCLK3 (E250K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541132	NM_001394672.2(DCLK3):c.726G>A (p.Met242Ile)	DCLK3 (M73I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2490327	NM_001394672.2(DCLK3):c.593C>T (p.Ala198Val)	DCLK3 (A198V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653655	NM_001394672.2(DCLK3):c.578G>A (p.Arg193Gln)	DCLK3 (R193Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2366192	NM_001394672.2(DCLK3):c.577C>T (p.Arg193Trp)	DCLK3 (R24W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062747	GRCh37/hg19 3p22.3-22.2(chr3:35969734-37443324)x3	APRG1, DCLK3 +6 more	Copy number gain	not specified	GUncertain significance
Select item 3062694	GRCh37/hg19 3p22.3-22.2(chr3:35970901-37455657)x3	APRG1, DCLK3 +6 more	Copy number gain	not specified	GUncertain significance
Select item 1455527	NC_000003.11:g.(?_16710965)_(41275270_?)del	AZI2, CCR4 +93 more	Deletion	not provided	GPathogenic
Select item 562760	GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3	ABHD5, ACAA1 +135 more	Copy number gain	not provided	GPathogenic
Select item 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	ANKRD28, APRG1 +155 more	Copy number gain	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic

ClinVar

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Items: 44