ClinVar for Gene (Select 9746) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3267903	NM_014718.4(CLSTN3):c.1439A>T (p.His480Leu)	CLSTN3 (H480L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267902	NM_014718.4(CLSTN3):c.2222C>T (p.Thr741Ile)	CLSTN3 (T741I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267901	NM_014718.4(CLSTN3):c.581T>C (p.Ile194Thr)	CLSTN3 (I194T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267900	NM_014718.4(CLSTN3):c.2627G>A (p.Arg876His)	CLSTN3 (R876H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267899	NM_014718.4(CLSTN3):c.1958G>A (p.Arg653His)	CLSTN3 (R653H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267898	NM_014718.4(CLSTN3):c.802A>G (p.Ile268Val)	CLSTN3 (I268V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267897	NM_014718.4(CLSTN3):c.484C>T (p.Arg162Cys)	CLSTN3 (R162C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267896	NM_014718.4(CLSTN3):c.1560C>G (p.His520Gln)	CLSTN3 (H520Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267894	NM_014718.4(CLSTN3):c.2336G>A (p.Arg779Gln)	CLSTN3 (R779Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244256	NC_000012.11:g.(?_7053285)_(9027607_?)del	A2ML1, ACSM4 +35 more	Deletion	Peroxisome biogenesis disorder 2B +1 more	GPathogenic
Select item 3146086	NM_014718.4(CLSTN3):c.971C>T (p.Pro324Leu)	CLSTN3 (P324L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146085	NM_014718.4(CLSTN3):c.796C>T (p.Pro266Ser)	CLSTN3 (P266S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146083	NM_014718.4(CLSTN3):c.451C>T (p.Arg151Cys)	CLSTN3 (R151C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146082	NM_014718.4(CLSTN3):c.286C>G (p.Pro96Ala)	CLSTN3 (P96A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146081	NM_014718.4(CLSTN3):c.2836A>G (p.Arg946Gly)	CLSTN3 (R946G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146080	NM_014718.4(CLSTN3):c.2688C>G (p.Phe896Leu)	CLSTN3 (F896L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146079	NM_014718.4(CLSTN3):c.244C>T (p.Leu82Phe)	CLSTN3 (L82F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146078	NM_014718.4(CLSTN3):c.2353A>G (p.Met785Val)	CLSTN3 (M785V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146077	NM_014718.4(CLSTN3):c.2308G>A (p.Gly770Arg)	CLSTN3 (G770R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146076	NM_014718.4(CLSTN3):c.2261C>T (p.Thr754Ile)	CLSTN3 (T754I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146075	NM_014718.4(CLSTN3):c.1985A>G (p.Asn662Ser)	CLSTN3 (N662S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146074	NM_014718.4(CLSTN3):c.1870G>A (p.Val624Ile)	CLSTN3 (V624I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146073	NM_014718.4(CLSTN3):c.1778T>C (p.Val593Ala)	CLSTN3 (V593A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146072	NM_014718.4(CLSTN3):c.1754C>A (p.Thr585Asn)	CLSTN3 (T585N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146071	NM_014718.4(CLSTN3):c.161A>G (p.Asp54Gly)	CLSTN3 (D54G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146070	NM_014718.4(CLSTN3):c.1571A>G (p.His524Arg)	CLSTN3 (H524R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146069	NM_014718.4(CLSTN3):c.1513G>A (p.Gly505Arg)	CLSTN3 (G505R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146068	NM_014718.4(CLSTN3):c.1444C>T (p.Pro482Ser)	CLSTN3 (P482S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2642668	NM_014718.4(CLSTN3):c.2829C>T (p.Ser943=)	CLSTN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642667	NM_014718.4(CLSTN3):c.2730+19C>T	CLSTN3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2642666	NM_014718.4(CLSTN3):c.1533C>T (p.Thr511=)	CLSTN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642665	NM_014718.4(CLSTN3):c.777T>C (p.Ala259=)	CLSTN3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2642664	NM_014718.4(CLSTN3):c.255G>A (p.Ala85=)	CLSTN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2603330	NM_014718.4(CLSTN3):c.1442C>T (p.Pro481Leu)	CLSTN3 (P481L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600752	NM_014718.4(CLSTN3):c.743G>T (p.Gly248Val)	CLSTN3 (G248V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590108	NM_014718.4(CLSTN3):c.2804C>T (p.Ser935Leu)	CLSTN3 (S935L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552793	NM_014718.4(CLSTN3):c.916C>T (p.Arg306Trp)	CLSTN3 (R306W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541131	NM_014718.4(CLSTN3):c.2278C>A (p.Leu760Met)	CLSTN3 (L760M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536362	NM_014718.4(CLSTN3):c.2162G>A (p.Arg721Gln)	CLSTN3 (R721Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526345	NM_014718.4(CLSTN3):c.1594G>A (p.Val532Met)	CLSTN3 (V532M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490766	NM_014718.4(CLSTN3):c.1601C>T (p.Ser534Leu)	CLSTN3 (S534L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483426	NM_014718.4(CLSTN3):c.1013A>G (p.Gln338Arg)	CLSTN3 (Q338R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482159	NM_014718.4(CLSTN3):c.2860C>G (p.His954Asp)	CLSTN3 (H954D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475957	NM_014718.4(CLSTN3):c.2645G>A (p.Gly882Glu)	CLSTN3 (G882E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469031	NM_014718.4(CLSTN3):c.346G>A (p.Glu116Lys)	CLSTN3 (E116K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461163	NM_014718.4(CLSTN3):c.1243C>T (p.His415Tyr)	CLSTN3 (H415Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454574	NM_014718.4(CLSTN3):c.2416C>T (p.Arg806Trp)	CLSTN3 (R806W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2423987	NC_000012.11:g.(?_4368352)_(9027607_?)dup	A2ML1, ACRBP +85 more	Duplication	Lymphoproliferative syndrome 2	GUncertain significance
Select item 2399938	NM_014718.4(CLSTN3):c.650C>T (p.Thr217Ile)	CLSTN3 (T217I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390569	NM_014718.4(CLSTN3):c.633G>C (p.Glu211Asp)	CLSTN3 (E211D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379590	NM_014718.4(CLSTN3):c.173C>T (p.Pro58Leu)	CLSTN3 (P58L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376533	NM_014718.4(CLSTN3):c.1351G>A (p.Ala451Thr)	CLSTN3 (A451T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375915	NM_014718.4(CLSTN3):c.1189G>A (p.Val397Ile)	CLSTN3 (V397I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375413	NM_014718.4(CLSTN3):c.2264T>C (p.Val755Ala)	CLSTN3 (V755A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375129	NM_014718.4(CLSTN3):c.2863C>T (p.Arg955Cys)	CLSTN3 (R955C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370920	NM_014718.4(CLSTN3):c.911C>T (p.Ala304Val)	CLSTN3 (A304V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370654	NM_014718.4(CLSTN3):c.562C>A (p.Pro188Thr)	CLSTN3 (P188T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368687	NM_014718.4(CLSTN3):c.1390G>A (p.Asp464Asn)	CLSTN3 (D464N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360493	NM_014718.4(CLSTN3):c.2128A>C (p.Ile710Leu)	CLSTN3 (I710L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349698	NM_014718.4(CLSTN3):c.1754C>T (p.Thr585Ile)	CLSTN3 (T585I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345086	NM_014718.4(CLSTN3):c.2566G>A (p.Val856Met)	CLSTN3 (V856M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342807	NM_014718.4(CLSTN3):c.2071A>G (p.Thr691Ala)	CLSTN3 (T691A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316093	NM_014718.4(CLSTN3):c.1161C>A (p.Asn387Lys)	CLSTN3 (N387K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314450	NM_014718.4(CLSTN3):c.2459T>G (p.Leu820Arg)	CLSTN3 (L820R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308635	NM_014718.4(CLSTN3):c.2504T>C (p.Leu835Pro)	CLSTN3 (L835P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293856	NM_014718.4(CLSTN3):c.1274C>T (p.Pro425Leu)	CLSTN3 (P425L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284116	NM_014718.4(CLSTN3):c.2854C>T (p.Pro952Ser)	CLSTN3 (P952S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264159	NM_014718.4(CLSTN3):c.395A>T (p.His132Leu)	CLSTN3 (H132L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262423	NM_014718.4(CLSTN3):c.2348C>T (p.Ser783Leu)	CLSTN3 (S783L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252091	NM_014718.4(CLSTN3):c.254C>T (p.Ala85Val)	CLSTN3 (A85V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232418	NM_014718.4(CLSTN3):c.2774G>C (p.Gly925Ala)	CLSTN3 (G925A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221283	NM_014718.4(CLSTN3):c.2084C>A (p.Thr695Lys)	CLSTN3 (T695K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211143	NM_014718.4(CLSTN3):c.1828C>T (p.Arg610Cys)	CLSTN3 (R610C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209688	NM_014718.4(CLSTN3):c.2832C>A (p.Asp944Glu)	CLSTN3 (D944E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807708	GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 1527682	GRCh37/hg19 12p13.31(chr12:6530146-7376398)	ACRBP, ATN1 +40 more	Copy number gain	not specified	GUncertain significance
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
Select item 1473612	NC_000012.11:g.(?_6438478)_(8756953_?)dup	ACRBP, ACSM4 +64 more	Duplication	not provided	GUncertain significance
Select item 1409561	NC_000012.11:g.(?_6438478)_(8248686_?)dup	ENO2, VAMP1 +57 more	Duplication	Temtamy syndrome	GUncertain significance
Select item 1373618	NC_000012.11:g.(?_6978008)_(9010204_?)dup	C12orf57, ATN1 +40 more	Duplication	Peroxisome biogenesis disorder 2B	GUncertain significance
Select item 1330180	GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3	CLEC4A, LRRC23 +106 more	Copy number gain	Single transverse palmar crease +6 more	GPathogenic
Select item 1180524	GRCh37/hg19 12p13.33-13.31(chr12:189145-7730395)x3	CRACR2A, ERC1 +93 more	Copy number gain	not provided	GPathogenic
Select item 1056361	NC_000012.11:g.(?_6438478)_(7362819_?)dup	ACRBP, ATN1 +43 more	Duplication	Temtamy syndrome	GUncertain significance
Select item 1004385	NC_000012.11:g.(?_6945914)_(9027627_?)dup	C1RL, C1S +44 more	Duplication	Klippel-Feil syndrome 3, autosomal dominant	GUncertain significance
Select item 996628	NM_014718.4(CLSTN3):c.599T>C (p.Ile200Thr)	CLSTN3 (I200T)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 830671	NC_000012.11:g.(?_6438458)_(7362839_?)dup	ACRBP, ATN1 +43 more	Duplication	Peroxisome biogenesis disorder 2B	GUncertain significance
Select item 830465	NC_000012.11:g.(?_6945914)_(8248706_?)dup	ACSM4, APOBEC1 +34 more	Duplication	Temtamy syndrome	GUncertain significance
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 688764	GRCh37/hg19 12p13.31(chr12:7162134-7605102)x3	ACSM4, C1R +6 more	Copy number gain	not provided	GUncertain significance
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 685635	GRCh37/hg19 12p13.33-13.31(chr12:173786-8393815)x3	ACRBP, ACSM4 +107 more	Copy number gain	not provided	GPathogenic
Select item 625811	GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497)	ACRBP, ACSM4 +102 more	Copy number gain	not provided	GPathogenic
Select item 625810	GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292)	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 625809	GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)	A2M, A2ML1 +193 more	Copy number gain	not provided	GPathogenic
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	GAPDH, GAU1 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided

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