SMC4[gene] - ClinVar

Search results

Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 57993	GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3	ACTRT3, ARL14 +304 more	Copy number gain	See cases	GPathogenic
Select item 3166385	NM_001002800.3(SMC4):c.29C>T (p.Thr10Ile)	SMC4, TRIM59-IFT80 (T10I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556419	NM_001002800.3(SMC4):c.58C>T (p.Pro20Ser)	SMC4, TRIM59-IFT80 (P20S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344786	NM_001002800.3(SMC4):c.88G>A (p.Ala30Thr)	SMC4, TRIM59-IFT80 (A30T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2386997	NM_001002800.3(SMC4):c.203C>T (p.Pro68Leu)	SMC4, TRIM59-IFT80 (P68L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467897	NM_001002800.3(SMC4):c.310T>C (p.Phe104Leu)	SMC4, TRIM59-IFT80 (F79L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320890	NM_001002800.3(SMC4):c.456C>G (p.His152Gln)	SMC4, TRIM59-IFT80 (H127Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617310	NM_001002800.3(SMC4):c.590A>G (p.Tyr197Cys)	SMC4, TRIM59-IFT80 (Y172C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403620	NM_001002800.3(SMC4):c.665A>G (p.His222Arg)	SMC4, TRIM59-IFT80 (H197R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610873	NM_001002800.3(SMC4):c.814C>T (p.Arg272Trp)	SMC4, TRIM59-IFT80 (R247W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480264	NM_001002800.3(SMC4):c.896A>G (p.Glu299Gly)	SMC4, TRIM59-IFT80 (E274G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536384	NM_001002800.3(SMC4):c.950G>C (p.Arg317Thr)	SMC4, TRIM59-IFT80 (R317T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558632	NM_001002800.3(SMC4):c.971A>G (p.Gln324Arg)	SMC4, TRIM59-IFT80 (Q324R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320888	NM_001002800.3(SMC4):c.998G>A (p.Arg333Gln)	SMC4, TRIM59-IFT80 (R308Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608448	NM_001002800.3(SMC4):c.1000A>G (p.Ile334Val)	SMC4, TRIM59-IFT80 (I309V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336445	NM_001002800.3(SMC4):c.1023G>C (p.Lys341Asn)	SMC4, TRIM59-IFT80 (K341N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328872	NM_001002800.3(SMC4):c.1131T>A (p.Asn377Lys)	SMC4, TRIM59-IFT80 (N377K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302852	NM_001002800.3(SMC4):c.1136T>C (p.Ile379Thr)	SMC4, TRIM59-IFT80 (I354T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540786	NM_001002800.3(SMC4):c.1222A>G (p.Thr408Ala)	SMC4, TRIM59-IFT80 (T408A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309624	NM_001002800.3(SMC4):c.1282T>C (p.Phe428Leu)	SMC4, TRIM59-IFT80 (F403L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166377	NM_001002800.3(SMC4):c.1292T>C (p.Ile431Thr)	SMC4, TRIM59-IFT80 (I431T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166378	NM_001002800.3(SMC4):c.1483G>A (p.Ala495Thr)	SMC4, TRIM59-IFT80 (A470T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599126	NM_001002800.3(SMC4):c.1487G>T (p.Arg496Leu)	SMC4, TRIM59-IFT80 (R496L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 523010	NM_001002800.3(SMC4):c.1513G>T (p.Glu505Ter)	SMC4, TRIM59-IFT80 (E480* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3166379	NM_001002800.3(SMC4):c.1718A>G (p.Lys573Arg)	SMC4, TRIM59-IFT80 (K548R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538337	NM_001002800.3(SMC4):c.1748T>C (p.Val583Ala)	SMC4, TRIM59-IFT80 (V558A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311618	NM_001002800.3(SMC4):c.1784G>A (p.Ser595Asn)	SMC4, TRIM59-IFT80 (S570N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600758	NM_001002800.3(SMC4):c.1807A>G (p.Ile603Val)	SMC4, TRIM59-IFT80 (I603V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2392337	NM_001002800.3(SMC4):c.1949T>A (p.Ile650Lys)	SMC4, TRIM59-IFT80 (I625K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166380	NM_001002800.3(SMC4):c.1952C>T (p.Ala651Val)	SMC4, TRIM59-IFT80 (A626V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320891	NM_001002800.3(SMC4):c.1985A>G (p.Asn662Ser)	SMC4, TRIM59-IFT80 (N637S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166381	NM_001002800.3(SMC4):c.2008G>T (p.Gly670Cys)	SMC4, TRIM59-IFT80 (G670C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344410	NM_001002800.3(SMC4):c.2020A>G (p.Met674Val)	SMC4, TRIM59-IFT80 (M649V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368763	NM_001002800.3(SMC4):c.2336T>C (p.Met779Thr)	SMC4, TRIM59-IFT80 (M779T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354762	NM_001002800.3(SMC4):c.2356G>A (p.Asp786Asn)	SMC4, TRIM59-IFT80 (D786N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166383	NM_001002800.3(SMC4):c.2423G>A (p.Arg808Gln)	SMC4, TRIM59-IFT80 (R783Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619889	NM_001002800.3(SMC4):c.2444G>A (p.Arg815Lys)	SMC4, TRIM59-IFT80 (R815K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777588	NM_001002800.3(SMC4):c.2478+4TG[17]	SMC4, TRIM59-IFT80	Microsatellite (intron variant)	not provided	GBenign
Select item 774608	NM_001002800.3(SMC4):c.2478+4TG[23]	SMC4, TRIM59-IFT80	Microsatellite (intron variant)	not provided	GBenign
Select item 771705	NM_001002800.3(SMC4):c.2478+4TG[21]	SMC4, TRIM59-IFT80	Microsatellite (intron variant)	not provided	GLikely benign
Select item 770149	NM_001002800.3(SMC4):c.2478+4TG[22]	SMC4, TRIM59-IFT80	Microsatellite (intron variant)	not provided	GLikely benign
Select item 718993	NM_001002800.3(SMC4):c.2560A>G (p.Lys854Glu)	SMC4, TRIM59-IFT80 (K829E +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3166384	NM_001002800.3(SMC4):c.2656C>T (p.Arg886Cys)	SMC4, TRIM59-IFT80 (R861C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277285	NM_001002800.3(SMC4):c.2666A>G (p.Asn889Ser)	SMC4, TRIM59-IFT80 (N864S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654258	NM_001002800.3(SMC4):c.2817C>T (p.Asp939=)	SMC4, TRIM59-IFT80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2612823	NM_001002800.3(SMC4):c.2861A>G (p.Glu954Gly)	SMC4, TRIM59-IFT80 (E929G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234625	NM_001002800.3(SMC4):c.2953G>C (p.Glu985Gln)	SMC4, TRIM59-IFT80 (E985Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338843	NM_001002800.3(SMC4):c.2968C>T (p.His990Tyr)	SMC4, TRIM59-IFT80 (H990Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410403	NM_001002800.3(SMC4):c.2975A>G (p.Asn992Ser)	SMC4, TRIM59-IFT80 (N967S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604218	NM_001002800.3(SMC4):c.3181G>C (p.Glu1061Gln)	LOC126806863, SMC4 +1 more (E1061Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266476	NM_001002800.3(SMC4):c.3214A>G (p.Ile1072Val)	LOC126806863, SMC4 +1 more (I1047V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568863	NM_001002800.3(SMC4):c.3245G>A (p.Arg1082Gln)	LOC126806863, SMC4 +1 more (R1082Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2612824	NM_001002800.3(SMC4):c.3258G>A (p.Met1086Ile)	LOC126806863, SMC4 +1 more (M1061I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381844	NM_001002800.3(SMC4):c.3271G>A (p.Gly1091Ser)	LOC126806863, SMC4 +1 more (G1066S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328588	NM_001002800.3(SMC4):c.3271G>T (p.Gly1091Cys)	LOC126806863, SMC4 +1 more (G1091C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166386	NM_001002800.3(SMC4):c.3280G>A (p.Ala1094Thr)	LOC126806863, SMC4 +1 more (A1069T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289421	NM_001002800.3(SMC4):c.3286T>C (p.Tyr1096His)	LOC126806863, SMC4 +1 more (Y1071H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310420	NM_001002800.3(SMC4):c.3569A>G (p.Asn1190Ser)	SMC4, TRIM59-IFT80 (N1165S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166387	NM_001002800.3(SMC4):c.3655G>A (p.Asp1219Asn)	SMC4, TRIM59-IFT80 (D1194N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320889	NM_001002800.3(SMC4):c.3661A>C (p.Ile1221Leu)	SMC4, TRIM59-IFT80 (I1196L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265674	NM_001002800.3(SMC4):c.3755G>A (p.Arg1252Gln)	SMC4, TRIM59-IFT80 (R1252Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 91919	NM_001002800.3(SMC4):c.3849A>T (p.Ala1283=)	SMC4, TRIM59-IFT80	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1527050	GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)	ACTL6A, ACTRT3 +79 more	Copy number gain	not specified	GPathogenic
Select item 1527049	GRCh37/hg19 3q25.31-25.33(chr3:156768935-160158553)	C3orf80, CCNL1 +16 more	Copy number gain	not specified	GUncertain significance
Select item 1527043	GRCh37/hg19 3q24-25.33(chr3:145486960-160504834)	AADAC, AADACL2 +75 more	Copy number gain	not specified	GPathogenic
Select item 1328449	GRCh37/hg19 3q24-26.1(chr3:143439359-165252122)x1	PTX3, SCHIP1 +83 more	Copy number loss	not provided	GPathogenic
Select item 1047879	GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	CHST2, CLRN1 +115 more	Copy number gain	Global developmental delay	GPathogenic
Select item 929388	GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3	AADAC, AADACL2 +115 more	Copy number gain	See cases	GPathogenic
Select item 929324	GRCh37/hg19 3q25.31-25.33(chr3:156812581-160154747)x3	C3orf80, CCNL1 +16 more	Copy number gain	See cases	GUncertain significance
Select item 635957	Single allele	IL12A, IQCJ +10 more	Duplication	Growth abnormality	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	ABCC5, ABCF3 +198 more	Copy number gain	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic

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Items: 83