ClinVar for Gene (Select 26054) - ClinVar

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Links from Gene

Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3317449	NM_015571.4(SENP6):c.2335C>G (p.Pro779Ala)	SENP6 (P772A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317448	NM_015571.4(SENP6):c.125G>C (p.Ser42Thr)	SENP6 (S42T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317447	NM_015571.4(SENP6):c.2498G>A (p.Cys833Tyr)	SENP6 (C826Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317445	NM_015571.4(SENP6):c.1733A>G (p.Asn578Ser)	SENP6 (N578S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3317444	NM_015571.4(SENP6):c.29C>T (p.Ala10Val)	SENP6 (A10V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317443	NM_015571.4(SENP6):c.1390A>G (p.Ile464Val)	SENP6 (I464V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317442	NM_015571.4(SENP6):c.559A>T (p.Met187Leu)	SENP6 (M187L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317441	NM_015571.4(SENP6):c.475G>A (p.Glu159Lys)	SENP6 (E159K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3246043	NC_000006.11:g.(?_75827078)_(76640888_?)dup	COL12A1, COX7A2 +5 more	Duplication	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 3159988	NM_015571.4(SENP6):c.97A>T (p.Asn33Tyr)	SENP6 (N33Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159987	NM_015571.4(SENP6):c.491C>T (p.Pro164Leu)	SENP6 (P157L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159986	NM_015571.4(SENP6):c.470G>A (p.Arg157Gln)	SENP6 (R157Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3159985	NM_015571.4(SENP6):c.434C>G (p.Pro145Arg)	SENP6 (P145R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159984	NM_015571.4(SENP6):c.3215G>A (p.Arg1072Gln)	SENP6 (R1065Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159983	NM_015571.4(SENP6):c.3185C>T (p.Pro1062Leu)	SENP6 (P1055L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159982	NM_015571.4(SENP6):c.2665A>G (p.Lys889Glu)	SENP6 (K882E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159981	NM_015571.4(SENP6):c.2603C>T (p.Ala868Val)	SENP6 (A868V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159980	NM_015571.4(SENP6):c.2546G>A (p.Arg849His)	SENP6 (R842H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159979	NM_015571.4(SENP6):c.2383A>G (p.Lys795Glu)	SENP6 (K788E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159978	NM_015571.4(SENP6):c.1769G>T (p.Gly590Val)	SENP6 (G583V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159977	NM_015571.4(SENP6):c.1751C>G (p.Pro584Arg)	SENP6 (P577R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159976	NM_015571.4(SENP6):c.1685T>G (p.Val562Gly)	SENP6 (V555G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159975	NM_015571.4(SENP6):c.1641A>G (p.Ile547Met)	SENP6 (I547M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159974	NM_015571.4(SENP6):c.1592A>G (p.Asn531Ser)	SENP6 (N524S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159973	NM_015571.4(SENP6):c.1468G>C (p.Asp490His)	SENP6 (D490H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159972	NM_015571.4(SENP6):c.1438G>T (p.Asp480Tyr)	SENP6 (D480Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159970	NM_015571.4(SENP6):c.142A>C (p.Lys48Gln)	SENP6 (K48Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159969	NM_015571.4(SENP6):c.1148G>A (p.Arg383His)	SENP6 (R376H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2656710	NM_015571.4(SENP6):c.1968A>G (p.Val656=)	SENP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656709	NM_015571.4(SENP6):c.1872A>G (p.Gln624=)	SENP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2615334	NM_015571.4(SENP6):c.26G>T (p.Ser9Ile)	SENP6 (S9I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611777	NM_015571.4(SENP6):c.1434C>A (p.Asp478Glu)	SENP6 (D478E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2556648	NM_015571.4(SENP6):c.2830A>G (p.Ser944Gly)	SENP6 (S937G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548476	NM_015571.4(SENP6):c.3138T>G (p.Ile1046Met)	SENP6 (I1046M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545373	NM_015571.4(SENP6):c.11G>C (p.Gly4Ala)	SENP6 (G4A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538437	NM_015571.4(SENP6):c.1378A>G (p.Ile460Val)	SENP6 (I453V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533301	NM_015571.4(SENP6):c.1006A>G (p.Ser336Gly)	SENP6 (S329G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510342	NM_015571.4(SENP6):c.2176C>T (p.His726Tyr)	SENP6 (H719Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479561	NM_015571.4(SENP6):c.803C>A (p.Thr268Lys)	SENP6 (T261K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477723	NM_015571.4(SENP6):c.1289A>T (p.Asp430Val)	SENP6 (D423V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475733	NM_015571.4(SENP6):c.2568T>A (p.Ser856Arg)	SENP6 (S849R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473992	NM_015571.4(SENP6):c.2522C>A (p.Pro841His)	SENP6 (P834H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473350	NM_015571.4(SENP6):c.3157A>G (p.Met1053Val)	SENP6 (M1046V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472925	NM_015571.4(SENP6):c.1750C>T (p.Pro584Ser)	SENP6 (P584S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471256	NM_015571.4(SENP6):c.1439A>T (p.Asp480Val)	SENP6 (D473V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463194	NM_015571.4(SENP6):c.779C>T (p.Ser260Phe)	SENP6 (S253F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457995	NM_015571.4(SENP6):c.641A>G (p.Tyr214Cys)	SENP6 (Y207C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456598	NM_015571.4(SENP6):c.2562A>G (p.Ile854Met)	SENP6 (I847M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386811	NM_015571.4(SENP6):c.2684A>G (p.Gln895Arg)	SENP6 (Q888R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368988	NM_015571.4(SENP6):c.2201A>G (p.Gln734Arg)	SENP6 (Q727R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368232	NM_015571.4(SENP6):c.218G>A (p.Arg73Gln)	SENP6 (R73Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2354233	NM_015571.4(SENP6):c.1708A>C (p.Ile570Leu)	SENP6 (I563L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307199	NM_015571.4(SENP6):c.920T>C (p.Leu307Ser)	SENP6 (L307S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292727	NM_015571.4(SENP6):c.521C>T (p.Pro174Leu)	SENP6 (P167L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285902	NM_015571.4(SENP6):c.271A>G (p.Arg91Gly)	SENP6 (R91G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282890	NM_015571.4(SENP6):c.3335A>G (p.Asp1112Gly)	SENP6 (D1105G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282866	NM_015571.4(SENP6):c.1769G>A (p.Gly590Asp)	SENP6 (G590D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252956	NM_015571.4(SENP6):c.3323A>C (p.Asn1108Thr)	SENP6 (N1101T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233491	NM_015571.4(SENP6):c.1990G>A (p.Gly664Arg)	SENP6 (G657R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215213	NM_015571.4(SENP6):c.1499G>A (p.Arg500Gln)	SENP6 (R493Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212914	NM_015571.4(SENP6):c.341A>G (p.Asn114Ser)	SENP6 (N114S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1706642	NM_015571.4(SENP6):c.469C>T (p.Arg157Ter)	SENP6 (R157*)	Single nucleotide variant (nonsense +1 more)	Epicanthus +3 more	GLikely benign
Select item 1703664	GRCh37/hg19 6q12-14.1(chr6:64954687-79581678)	ADGRB3, B3GAT2 +32 more	Copy number loss	Chromosome 6q11-q14 deletion syndrome	GPathogenic
Select item 1527253	GRCh37/hg19 6q14.1(chr6:76424884-76512137)	MYO6, SENP6	Copy number loss	not specified	GUncertain significance
Select item 1527252	GRCh37/hg19 6q13-14.1(chr6:75889207-76522602)	COL12A1, COX7A2 +4 more	Copy number gain	not specified	GUncertain significance
Select item 1527249	GRCh37/hg19 6q12-16.1(chr6:69938252-94379210)	BACH2, ADGRB3 +88 more	Copy number gain	not specified	GPathogenic
Select item 1341189	GRCh37/hg19 6q13-14.1(chr6:72799054-83275894)x1	BCKDHB, CD109 +31 more	Copy number loss	not provided	GPathogenic
Select item 1340605	GRCh37/hg19 6q13-14.1(chr6:70165296-79920769)x1	B3GAT2, CD109 +31 more	Copy number loss	not provided	GPathogenic
Select item 980213	GRCh37/hg19 6q14.1(chr6:76226393-76496960)x3	SENP6, MYO6	Copy number gain	not provided	GUncertain significance
Select item 980211	GRCh37/hg19 6q13-14.1(chr6:74226559-80208037)x1	IRAK1BP1, CD109 +13 more	Copy number loss	not provided	GPathogenic
Select item 814832	GRCh37/hg19 6q14.1(chr6:76228781-76435943)x3	SENP6	Copy number gain	not provided	GUncertain significance
Select item 814831	GRCh37/hg19 6q14.1(chr6:76147293-76567615)x3	SENP6, FILIP1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 814830	GRCh37/hg19 6q13-14.1(chr6:75899299-76343518)x3	TMEM30A, SENP6 +3 more	Copy number gain	not provided	GUncertain significance
Select item 783467	NM_015571.4(SENP6):c.1959-4A>T	SENP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 768103	NM_015571.4(SENP6):c.762G>A (p.Thr254=)	SENP6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 768102	NM_015571.4(SENP6):c.537G>T (p.Arg179=)	SENP6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 587562	NM_015571.4(SENP6):c.113A>G (p.His38Arg)	SENP6 (H38R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 563192	GRCh37/hg19 6q13-14.2(chr6:73674612-84829774)x1	BCKDHB, CD109 +40 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442520	GRCh37/hg19 6q14.1(chr6:76225927-76496960)x3	MYO6, SENP6	Copy number gain	See cases	GUncertain significance
Select item 441916	GRCh37/hg19 6q14.1(chr6:76415367-76483115)x3	MYO6, SENP6	Copy number gain	See cases	GUncertain significance
Select item 154460	GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1	ADGRB3, ADGRB3-DT +310 more	Copy number loss	See cases	GPathogenic
Select item 152284	GRCh38/hg38 6q14.1(chr6:75655832-76509933)x3	IMPG1, LOC129996735 +7 more	Copy number gain	See cases	GUncertain significance
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 146557	GRCh38/hg38 6q14.1(chr6:75548198-75783637)x3	LOC123775375, LOC129996733 +7 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 87