CLIC6[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LCA5L, LINC00111 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653353, LOC126653354 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	KRTAP8-1, LCA5L +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	RNA5-8SN1, RNA5-8SN2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC130066804, LOC130066805 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	SCAF4, SETD4 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653353, LOC126653354 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC129388418, LOC129391214 +1160 more	Copy number gain	See cases	GPathogenic
Select item 149035	GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1	KCNJ6, KCNJ6-AS1 +643 more	Copy number loss	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LINC00515, LINC00649 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	LOC130066731, LOC130066732 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	ETS2-AS1, EVA1C +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066726, LOC130066727 +1159 more	Copy number gain	See cases	GPathogenic
Select item 144194	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3	LOC128849172, LOC129388418 +884 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SLC5A3, SLX9 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LINC01425, LINC01426 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066861, LOC130066862 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066468, LOC130066469 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC112694754, LOC114004360 +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066795, LOC130066796 +1156 more	Copy number loss	See cases	GPathogenic
Select item 154734	GRCh38/hg38 21q22.12(chr21:34507402-34693381)x1	CLIC6, KCNE1 +13 more	Copy number loss	See cases	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 2564414	NM_053277.3(CLIC6):c.89A>T (p.Glu30Val)	CLIC6, LOC130066590 (E30V)	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 3145772	NM_053277.3(CLIC6):c.133G>C (p.Glu45Gln)	CLIC6, LOC130066590 (E45Q)	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 2362921	NM_053277.3(CLIC6):c.227C>T (p.Thr76Met)	CLIC6, LOC130066590 (T76M)	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 2207780	NM_053277.3(CLIC6):c.241G>A (p.Gly81Ser)	CLIC6, LOC130066590 (G81S)	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 3145783	NM_053277.3(CLIC6):c.283G>A (p.Val95Met)	CLIC6, LOC130066590 (V95M)	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 3145784	NM_053277.3(CLIC6):c.337C>T (p.Pro113Ser)	CLIC6, LOC130066590 (P113S)	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 3267736	NM_053277.3(CLIC6):c.448G>A (p.Gly150Ser)	CLIC6 (G150S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234167	NM_053277.3(CLIC6):c.471G>A (p.Gly157=)	CLIC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2250496	NM_053277.3(CLIC6):c.510A>G (p.Ile170Met)	CLIC6 (I170M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715385	NM_053277.3(CLIC6):c.531C>G (p.Gly177=)	CLIC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 710983	NM_053277.3(CLIC6):c.538G>T (p.Val180Leu)	CLIC6 (V180L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 734248	NM_053277.3(CLIC6):c.540A>G (p.Val180=)	CLIC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2205810	NM_053277.3(CLIC6):c.609G>C (p.Glu203Asp)	CLIC6 (E203D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2652635	NM_053277.3(CLIC6):c.651G>C (p.Gly217=)	CLIC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2559953	NM_053277.3(CLIC6):c.659T>C (p.Val220Ala)	CLIC6 (V220A)	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 3145787	NM_053277.3(CLIC6):c.667G>A (p.Glu223Lys)	CLIC6 (E223K)	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 2246329	NM_053277.3(CLIC6):c.722A>G (p.Asp241Gly)	CLIC6 (D241G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652636	NM_053277.3(CLIC6):c.735G>C (p.Arg245=)	CLIC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 769476	NM_053277.3(CLIC6):c.786_815del (p.Gly263_Ala272del)	CLIC6	Deletion (inframe_deletion)	not provided	GBenign
Select item 2652637	NM_053277.3(CLIC6):c.783A>G (p.Glu261=)	CLIC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3267732	NM_053277.3(CLIC6):c.812A>T (p.Glu271Val)	CLIC6 (E271V)	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 3267731	NM_053277.3(CLIC6):c.849G>T (p.Glu283Asp)	CLIC6 (E283D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3145788	NM_053277.3(CLIC6):c.932T>C (p.Ile311Thr)	CLIC6 (I311T)	Single nucleotide variant (missense variant)	not specified	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 3145789	NM_053277.3(CLIC6):c.979G>A (p.Ala327Thr)	CLIC6 (A327T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 741296	NM_053277.3(CLIC6):c.1026C>T (p.Ser342=)	CLIC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2343077	NM_053277.3(CLIC6):c.1118G>T (p.Arg373Ile)	CLIC6 (R373I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726346	NM_053277.3(CLIC6):c.1121G>T (p.Arg374Leu)	CLIC6 (R374L)	Single nucleotide variant (missense variant)	not provided	GBenign
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 3145768	NM_053277.3(CLIC6):c.1191C>A (p.Ser397Arg)	CLIC6 (S397R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 718259	NM_053277.3(CLIC6):c.1203G>A (p.Glu401=)	CLIC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 785672	NM_053277.3(CLIC6):c.1307G>C (p.Arg436Pro)	CLIC6, LOC130066591 (R436P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 716249	NM_053277.3(CLIC6):c.1314C>A (p.Asp438Glu)	CLIC6, LOC130066591 (D438E)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2517321	NM_053277.3(CLIC6):c.1346A>G (p.Gln449Arg)	CLIC6 (Q449R)	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 737290	NM_053277.3(CLIC6):c.1425C>T (p.Leu475=)	CLIC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 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 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 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 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 741218	NM_053277.3(CLIC6):c.1650C>T (p.Ser550=)	CLIC6	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 3267729	NM_053277.3(CLIC6):c.1697C>T (p.Thr566Met)	CLIC6 (T566M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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