ClinVar for Gene (Select 54102) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3267737	NM_053277.3(CLIC6):c.869G>A (p.Arg290His)	CLIC6 (R290H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3267736	NM_053277.3(CLIC6):c.448G>A (p.Gly150Ser)	CLIC6 (G150S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267733	NM_053277.3(CLIC6):c.655A>G (p.Ser219Gly)	CLIC6 (S219G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267732	NM_053277.3(CLIC6):c.812A>T (p.Glu271Val)	CLIC6 (E271V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267731	NM_053277.3(CLIC6):c.849G>T (p.Glu283Asp)	CLIC6 (E283D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267730	NM_053277.3(CLIC6):c.1904T>C (p.Val635Ala)	CLIC6 (V635A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267729	NM_053277.3(CLIC6):c.1697C>T (p.Thr566Met)	CLIC6 (T566M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242283	GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not provided	GPathogenic
Select item 3234167	NM_053277.3(CLIC6):c.471G>A (p.Gly157=)	CLIC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3145789	NM_053277.3(CLIC6):c.979G>A (p.Ala327Thr)	CLIC6 (A327T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145788	NM_053277.3(CLIC6):c.932T>C (p.Ile311Thr)	CLIC6 (I311T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3145787	NM_053277.3(CLIC6):c.667G>A (p.Glu223Lys)	CLIC6 (E223K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145786	NM_053277.3(CLIC6):c.575C>A (p.Ala192Glu)	CLIC6 (A192E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145785	NM_053277.3(CLIC6):c.415G>A (p.Glu139Lys)	CLIC6 (E139K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145784	NM_053277.3(CLIC6):c.337C>T (p.Pro113Ser)	CLIC6, LOC130066590 (P113S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145783	NM_053277.3(CLIC6):c.283G>A (p.Val95Met)	CLIC6, LOC130066590 (V95M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145782	NM_053277.3(CLIC6):c.248C>T (p.Thr83Ile)	CLIC6, LOC130066590 (T83I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145781	NM_053277.3(CLIC6):c.230G>C (p.Arg77Thr)	CLIC6, LOC130066590 (R77T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145780	NM_053277.3(CLIC6):c.1949G>A (p.Gly650Asp)	CLIC6 (G650D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145779	NM_053277.3(CLIC6):c.1910A>G (p.Lys637Arg)	CLIC6 (K655R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145778	NM_053277.3(CLIC6):c.1843G>A (p.Gly615Arg)	CLIC6 (G615R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145777	NM_053277.3(CLIC6):c.1687A>G (p.Ile563Val)	CLIC6 (I581V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145775	NM_053277.3(CLIC6):c.1619A>T (p.Lys540Met)	CLIC6 (K540M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145774	NM_053277.3(CLIC6):c.1526C>G (p.Pro509Arg)	CLIC6 (P509R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145773	NM_053277.3(CLIC6):c.1442T>A (p.Leu481Gln)	CLIC6 (L481Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145772	NM_053277.3(CLIC6):c.133G>C (p.Glu45Gln)	CLIC6, LOC130066590 (E45Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145770	NM_053277.3(CLIC6):c.128G>C (p.Gly43Ala)	CLIC6, LOC130066590 (G43A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3145769	NM_053277.3(CLIC6):c.1202A>G (p.Glu401Gly)	CLIC6 (E401G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145768	NM_053277.3(CLIC6):c.1191C>A (p.Ser397Arg)	CLIC6 (S397R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145767	NM_053277.3(CLIC6):c.1131C>A (p.Ser377Arg)	CLIC6 (S377R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145766	NM_053277.3(CLIC6):c.1048G>T (p.Ala350Ser)	CLIC6 (A350S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062429	GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3	CBR1, CBR3 +139 more	Copy number gain	not specified	GPathogenic
Select item 3062428	GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1	KCNJ15, KCNJ6 +118 more	Copy number loss	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	ABCG1, ADAMTS1 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	ABCG1, ADARB1 +186 more	Copy number gain	not specified	GPathogenic
Select item 2684914	GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3	ABCG1, ADARB1 +148 more	Copy number gain	not provided	GPathogenic
Select item 2684910	GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3	CLDN14, CLDN17 +170 more	Copy number gain	not provided	GPathogenic
Select item 2652637	NM_053277.3(CLIC6):c.783A>G (p.Glu261=)	CLIC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652636	NM_053277.3(CLIC6):c.735G>C (p.Arg245=)	CLIC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652635	NM_053277.3(CLIC6):c.651G>C (p.Gly217=)	CLIC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622836	NM_053277.3(CLIC6):c.951G>T (p.Glu317Asp)	CLIC6 (E317D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615620	NM_053277.3(CLIC6):c.753G>C (p.Glu251Asp)	CLIC6 (E251D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602431	NM_053277.3(CLIC6):c.1973C>T (p.Ala658Val)	CLIC6 (A658V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588988	NM_053277.3(CLIC6):c.1786G>A (p.Glu596Lys)	CLIC6 (E596K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564414	NM_053277.3(CLIC6):c.89A>T (p.Glu30Val)	CLIC6, LOC130066590 (E30V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559953	NM_053277.3(CLIC6):c.659T>C (p.Val220Ala)	CLIC6 (V220A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542842	NM_053277.3(CLIC6):c.1976A>G (p.Tyr659Cys)	CLIC6 (Y659C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531174	NM_053277.3(CLIC6):c.476G>A (p.Ser159Asn)	CLIC6 (S159N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517321	NM_053277.3(CLIC6):c.1346A>G (p.Gln449Arg)	CLIC6 (Q449R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513147	NM_053277.3(CLIC6):c.2040T>G (p.Asp680Glu)	CLIC6 (D680E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489785	NM_053277.3(CLIC6):c.310G>A (p.Gly104Ser)	CLIC6, LOC130066590 (G104S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2461689	NM_053277.3(CLIC6):c.1492G>A (p.Ala498Thr)	CLIC6 (A498T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424231	NC_000021.8:g.(?_36079578)_(37133458_?)del	CLIC6, RUNX1	Deletion	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GPathogenic
Select item 2409314	NM_053277.3(CLIC6):c.1663G>A (p.Val555Met)	CLIC6 (V555M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407794	NM_053277.3(CLIC6):c.178G>T (p.Ala60Ser)	CLIC6, LOC130066590 (A60S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384053	NM_053277.3(CLIC6):c.1327G>A (p.Glu443Lys)	CLIC6 (E443K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381800	NM_053277.3(CLIC6):c.1559C>T (p.Thr520Met)	CLIC6 (T520M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378369	NM_053277.3(CLIC6):c.1634A>G (p.His545Arg)	CLIC6 (H563R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377588	NM_053277.3(CLIC6):c.1516G>A (p.Gly506Arg)	CLIC6 (G506R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375547	NM_053277.3(CLIC6):c.1856C>T (p.Thr619Met)	CLIC6 (T619M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362921	NM_053277.3(CLIC6):c.227C>T (p.Thr76Met)	CLIC6, LOC130066590 (T76M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356375	NM_053277.3(CLIC6):c.1637C>T (p.Pro546Leu)	CLIC6 (P546L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349982	NM_053277.3(CLIC6):c.682G>A (p.Asp228Asn)	CLIC6 (D228N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345974	NM_053277.3(CLIC6):c.693C>G (p.Asp231Glu)	CLIC6 (D231E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343077	NM_053277.3(CLIC6):c.1118G>T (p.Arg373Ile)	CLIC6 (R373I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336993	NM_053277.3(CLIC6):c.1355A>T (p.Asp452Val)	CLIC6 (D452V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313584	NM_053277.3(CLIC6):c.2021T>C (p.Ile674Thr)	CLIC6 (I674T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285697	NM_053277.3(CLIC6):c.664G>A (p.Ala222Thr)	CLIC6 (A222T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250496	NM_053277.3(CLIC6):c.510A>G (p.Ile170Met)	CLIC6 (I170M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246329	NM_053277.3(CLIC6):c.722A>G (p.Asp241Gly)	CLIC6 (D241G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241480	NM_053277.3(CLIC6):c.38G>A (p.Gly13Asp)	CLIC6, LOC130066590 (G13D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232540	NM_053277.3(CLIC6):c.1217C>T (p.Ala406Val)	CLIC6 (A406V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207780	NM_053277.3(CLIC6):c.241G>A (p.Gly81Ser)	CLIC6, LOC130066590 (G81S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206061	NM_053277.3(CLIC6):c.847G>A (p.Glu283Lys)	CLIC6 (E283K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205810	NM_053277.3(CLIC6):c.609G>C (p.Glu203Asp)	CLIC6 (E203D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809035	GRCh37/hg19 21q22.12(chr21:35938726-36255103)x3	CLIC6, RCAN1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1808349	GRCh37/hg19 21q22.12(chr21:36045253-36165086)x3	CLIC6, RUNX1	Copy number gain	not provided	GUncertain significance
Select item 1801737	NM_053277.3(CLIC6):c.787G>A (p.Gly263Arg)	CLIC6 (G263R)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1705932	GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	Down syndrome	GPathogenic
Select item 1526716	GRCh37/hg19 21q22.11-22.12(chr21:35298070-36876005)	CLIC6, KCNE1 +6 more	Copy number gain	not specified	GUncertain significance
Select item 1526710	GRCh37/hg19 21q21.3-22.13(chr21:29812033-39282854)	KRTAP20-1, KRTAP20-2 +91 more	Copy number gain	not specified	GPathogenic
Select item 1526706	GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)	ADAMTS1, ADAMTS5 +216 more	Copy number gain	not specified	GPathogenic
Select item 1526705	GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372)	KCNJ15, N6AMT1 +216 more	Copy number gain	not specified	GPathogenic
Select item 1409651	NC_000021.8:g.(?_32439271)_(39212984_?)dup	ATP5PO, CBR1 +48 more	Duplication	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 +3 more	GUncertain significance
Select item 1341200	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	not provided	GPathogenic
Select item 1321998	GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3	COL6A2, KRTAP20-3 +220 more	Copy number gain	See cases	GPathogenic
Select item 1035906	NC_000021.8:g.(?_32439271)_(37133458_?)dup	ATP5PO, CFAP298 +33 more	Duplication	Early-onset Parkinson disease 20 +1 more	GUncertain significance
Select item 983157	GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 916692	NM_053277.3(CLIC6):c.641G>T (p.Gly214Val)	CLIC6 (G214V)	Single nucleotide variant (missense variant)	sellar metastasis from primary bronchial carcinoid tumor	GUncertain significance
Select item 812914	NC_000021.8:g.35304355_36865958del	KCNE1, KCNE2 +6 more	Deletion	Thrombocytopenia	GLikely pathogenic
Select item 812913	NC_000021.8:g.35304341_36865875del	CLIC6, KCNE1 +6 more	Deletion	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 788626	NM_053277.3(CLIC6):c.1951A>G (p.Ile651Val)	CLIC6 (I669V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 788039	NM_053277.3(CLIC6):c.1848C>T (p.Asp616=)	CLIC6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 785672	NM_053277.3(CLIC6):c.1307G>C (p.Arg436Pro)	CLIC6, LOC130066591 (R436P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 777616	NM_053277.3(CLIC6):c.1919G>A (p.Arg640Lys)	CLIC6 (R658K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 777059	NM_053277.3(CLIC6):c.2001G>A (p.Thr667=)	CLIC6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 769476	NM_053277.3(CLIC6):c.786_815del (p.Gly263_Ala272del)	CLIC6	Deletion (inframe_deletion)	not provided	GBenign
Select item 741296	NM_053277.3(CLIC6):c.1026C>T (p.Ser342=)	CLIC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 741218	NM_053277.3(CLIC6):c.1650C>T (p.Ser550=)	CLIC6	Single nucleotide variant (synonymous variant)	not provided	GBenign

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