ClinVar for Gene (Select 51066) - ClinVar

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Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3170544	NM_001256748.3(SSUH2):c.946G>A (p.Ala316Thr)	LOC122889024, SSUH2 (A243T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170543	NM_001256748.3(SSUH2):c.638G>A (p.Arg213Gln)	SSUH2 (R140Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170542	NM_001256748.3(SSUH2):c.547C>T (p.Arg183Cys)	SSUH2 (R110C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170541	NM_001256748.3(SSUH2):c.210-97C>T	SSUH2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3170540	NM_001256748.3(SSUH2):c.520G>T (p.Val174Phe)	SSUH2 (V101F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170539	NM_001256748.3(SSUH2):c.512C>T (p.Ser171Leu)	SSUH2 (S171L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170538	NM_001256748.3(SSUH2):c.239G>A (p.Arg80Gln)	SSUH2 (R7Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170537	NM_001256748.3(SSUH2):c.210-22C>A	SSUH2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3170536	NM_001256748.3(SSUH2):c.1114T>C (p.Cys372Arg)	SSUH2 (C372R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 3062673	GRCh37/hg19 3p26.1-25.3(chr3:6306331-11468530)x1	ARPC4, ARPC4-TTLL3 +40 more	Copy number loss	not specified	GPathogenic
Select item 3062668	GRCh37/hg19 3p26.1-25.3(chr3:8405045-9014878)x1	CAV3, LINC00312 +4 more	Copy number loss	not specified	GUncertain significance
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 2671618	Single allele	ARL8B, ARPC4 +36 more	Deletion	not provided	GPathogenic
Select item 2600039	NM_001256748.3(SSUH2):c.272G>A (p.Cys91Tyr)	SSUH2 (C91Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2580893	GRCh37/hg19 3p26.2-25.3(chr3:3691505-9917651)x1	ARPC4, ARPC4-TTLL3 +29 more	Copy number loss	3p- syndrome	GPathogenic
Select item 2535365	NM_001256748.3(SSUH2):c.907A>G (p.Ile303Val)	LOC122889024, SSUH2 (I303V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493674	NM_001256748.3(SSUH2):c.574C>A (p.His192Asn)	SSUH2 (H192N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480123	NM_001256748.3(SSUH2):c.235G>A (p.Ala79Thr)	SSUH2 (A79T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470372	NM_001256748.3(SSUH2):c.210-94A>G	SSUH2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2423657	NC_000003.11:g.(?_6903076)_(9517775_?)del	CAV3, GRM7 +8 more	Deletion	not provided	GPathogenic
Select item 2410735	NM_001256748.3(SSUH2):c.924G>T (p.Gln308His)	LOC122889024, SSUH2 (Q308H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405479	NM_001256748.3(SSUH2):c.902G>A (p.Arg301Gln)	LOC122889024, SSUH2 (R228Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404614	NM_001256748.3(SSUH2):c.620G>A (p.Arg207His)	SSUH2 (R207H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377157	NM_001256748.3(SSUH2):c.548G>A (p.Arg183His)	SSUH2 (R110H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363828	NM_001256748.3(SSUH2):c.803G>A (p.Arg268Gln)	SSUH2 (R195Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2359032	NM_001256748.3(SSUH2):c.968G>A (p.Arg323His)	LOC122889024, SSUH2 (R323H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357946	NM_001256748.3(SSUH2):c.1090T>C (p.Tyr364His)	SSUH2 (Y364H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346444	NM_001256748.3(SSUH2):c.577G>A (p.Gly193Arg)	SSUH2 (G193R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329089	NM_001256748.3(SSUH2):c.917C>G (p.Ala306Gly)	LOC122889024, SSUH2 (A233G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327656	NM_001256748.3(SSUH2):c.992T>C (p.Ile331Thr)	SSUH2 (I258T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316829	NM_001256748.3(SSUH2):c.548G>T (p.Arg183Leu)	SSUH2 (R110L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300565	NM_001256748.3(SSUH2):c.763A>C (p.Met255Leu)	SSUH2 (M182L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294052	NM_001256748.3(SSUH2):c.520G>A (p.Val174Ile)	SSUH2 (V101I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265240	NM_001256748.3(SSUH2):c.412G>T (p.Asp138Tyr)	SSUH2 (D65Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808299	GRCh37/hg19 3p26.3-25.3(chr3:61892-11679509)x1	ARL8B, ARPC4 +55 more	Copy number loss	not provided	GPathogenic
Select item 1808087	GRCh37/hg19 3p26.1-25.3(chr3:8394537-9014878)x1	CAV3, LINC00312 +4 more	Copy number loss	not provided	GUncertain significance
Select item 1807781	GRCh37/hg19 3p26.3-25.3(chr3:61892-9769457)x1	ARL8B, BHLHE40 +25 more	Copy number loss	not provided	GPathogenic
Select item 1807765	GRCh37/hg19 3p26.3-25.3(chr3:61892-9899605)x1	ARL8B, ARPC4 +33 more	Copy number loss	not provided	GPathogenic
Select item 1803810	GRCh37/hg19 3p26.3-25.3(chr3:60931-10687964)x3	JAGN1, LHFPL4 +50 more	Copy number gain	not provided	GPathogenic
Select item 1706499	GRCh37/hg19 3p26.1-25.3(chr3:7694117-9546173)x1	SRGAP3, SSUH2 +9 more	Copy number loss	See cases	GPathogenic
Select item 1526996	GRCh37/hg19 3p26.1-25.3(chr3:8652091-8756423)	SSUH2	Copy number loss	not specified	GUncertain significance
Select item 1526995	GRCh37/hg19 3p26.1-25.3(chr3:6842555-10153209)	ARPC4, ARPC4-TTLL3 +28 more	Copy number loss	not specified	GPathogenic
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1526967	GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)	ANKRD28, ARL8B +112 more	Copy number gain	not specified	GPathogenic
Select item 1526966	GRCh37/hg19 3p26.3-25.3(chr3:61891-9797094)	ARL8B, BHLHE40 +27 more	Copy number loss	not specified	GPathogenic
Select item 1373390	NC_000003.11:g.(?_7782024)_(11078652_?)dup	ARPC4, ARPC4-TTLL3 +38 more	Duplication	Atrioventricular septal defect, susceptibility to, 2	GUncertain significance
Select item 1340193	GRCh37/hg19 3p26.1-25.3(chr3:8652027-8756423)x1	SSUH2	Copy number loss	not provided	GLikely benign
Select item 816593	GRCh37/hg19 3p26.3-25.3(chr3:61891-10287825)x1	ARL8B, ARPC4 +45 more	Copy number loss	not provided	GPathogenic
Select item 814421	GRCh37/hg19 3p26.1-25.3(chr3:7172720-9545741)x3	THUMPD3, GRM7 +9 more	Copy number gain	not provided	GUncertain significance
Select item 784465	NM_001256748.3(SSUH2):c.71C>T (p.Pro24Leu)	SSUH2 (P24L)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 781967	NM_001256748.3(SSUH2):c.244G>A (p.Ala82Thr)	SSUH2 (A82T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 722357	NM_001256748.3(SSUH2):c.448dup (p.Asp150fs)	SSUH2 (D150fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GLikely benign
Select item 711878	NM_001256748.3(SSUH2):c.656C>T (p.Ala219Val)	SSUH2 (A146V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 635936	Single allele	ARL8B, BHLHE40 +20 more	Deletion	Neurodevelopmental disorder	GLikely pathogenic
Select item 562744	GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)x3	ANKRD28, ARL8B +84 more	Copy number gain	not provided	GPathogenic
Select item 562726	GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3	ANKRD28, ARL8B +98 more	Copy number gain	not provided	GPathogenic
Select item 562691	GRCh37/hg19 3p26.3-25.3(chr3:61891-10104842)x1	SUMF1, TTLL3 +41 more	Copy number loss	not provided	GPathogenic
Select item 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	FANCD2OS, FBLN2 +155 more	Copy number gain	See cases	GPathogenic
Select item 443052	GRCh37/hg19 3p26.3-25.3(chr3:61891-8777555)x1	ARL8B, BHLHE40 +17 more	Copy number loss	See cases	GPathogenic
Select item 442562	GRCh37/hg19 3p26.1-25.3(chr3:7349315-9047066)x3	CAV3, GRM7 +6 more	Copy number gain	See cases	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +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 442264	GRCh37/hg19 3p26.3-25.2(chr3:61891-12575409)x1	ARL8B, ARPC4 +60 more	Copy number loss	See cases	GPathogenic
Select item 441705	GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3	ANKRD28, ARL8B +145 more	Copy number gain	See cases	GPathogenic
Select item 155699	GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3	ARPC4, ARPC4-TTLL3 +307 more	Copy number gain	See cases	GPathogenic
Select item 155639	GRCh38/hg38 3p26.3-25.3(chr3:688897-11051142)x1	ARL8B, ARPC4 +274 more	Copy number loss	See cases	GPathogenic
Select item 155258	GRCh38/hg38 3p26.3-25.3(chr3:32241-10323124)x1	MTMR14, OGG1 +263 more	Copy number loss	See cases	GPathogenic
Select item 155106	GRCh38/hg38 3p26.3-25.3(chr3:32241-10631310)x1	LOC129936144, LOC129936145 +271 more	Copy number loss	See cases	GPathogenic
Select item 154175	GRCh38/hg38 3p26.3-25.3(chr3:20213-9362037)x1	ARL8B, BHLHE40 +172 more	Copy number loss	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	LOC129936377, LOC129936378 +1111 more	Copy number gain	See cases	GPathogenic
Select item 153284	GRCh38/hg38 3p26.3-25.3(chr3:20213-11221602)x1	ARL8B, ARPC4 +286 more	Copy number loss	See cases	GPathogenic
Select item 152256	GRCh38/hg38 3p26.3-25.3(chr3:32241-9066287)x1	ARL8B, BHLHE40 +162 more	Copy number loss	See cases	GPathogenic
Select item 151834	GRCh38/hg38 3p25.3(chr3:8320124-9395968)x1	CAV3, LINC00312 +36 more	Copy number loss	See cases	GPathogenic
Select item 151534	GRCh38/hg38 3p26.3-25.3(chr3:32241-9574994)x1	LOC129936120, LOC129936121 +184 more	Copy number loss	See cases	GPathogenic
Select item 150393	GRCh38/hg38 3p26.3-25.3(chr3:32241-9469506)x1	LOC100130207, LOC101927394 +181 more	Copy number loss	See cases	GPathogenic
Select item 150031	GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3	ARL8B, ARPC4 +406 more	Copy number gain	See cases	GPathogenic
Select item 149331	GRCh38/hg38 3p26.3-25.3(chr3:32241-11379835)x1	ARL8B, ARPC4 +291 more	Copy number loss	See cases	GPathogenic
Select item 149085	GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1	LOC112935932, LOC112935963 +331 more	Copy number loss	See cases	GPathogenic
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936094, LOC129936095 +647 more	Copy number gain	See cases	GPathogenic
Select item 148234	GRCh38/hg38 3p26.1-25.2(chr3:7975734-12636917)x3	LOC129929025, LOC129929026 +190 more	Copy number gain	See cases	GLikely pathogenic
Select item 148015	GRCh38/hg38 3p26.3-25.3(chr3:52266-9450310)x1	ARL8B, BHLHE40 +181 more	Copy number loss	See cases	GPathogenic
Select item 147518	GRCh38/hg38 3p26.1-25.3(chr3:8038727-8668286)x3	LINC00312, LMCD1 +11 more	Copy number gain	See cases	GUncertain significance
Select item 146336	GRCh38/hg38 3p26.1-25.3(chr3:8038727-11240931)x4	ARPC4, ARPC4-TTLL3 +146 more	Copy number gain	See cases	GLikely pathogenic
Select item 144395	GRCh38/hg38 3p26.1-25.3(chr3:7401136-8995777)x3	CAV3, GRM7 +25 more	Copy number gain	See cases	GUncertain significance
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 57736	GRCh38/hg38 3p26.3-25.3(chr3:63843-9507969)x1	ARL8B, BHLHE40 +184 more	Copy number loss	See cases	GPathogenic
Select item 57708	GRCh38/hg38 3p26.3-25.3(chr3:52266-11089569)x1	ARL8B, ARPC4 +281 more	Copy number loss	See cases	GPathogenic
Select item 57697	GRCh38/hg38 3p26.1-25.3(chr3:8091665-8742586)x3	CAV3, LINC00312 +13 more	Copy number gain	See cases	GUncertain significance
Select item 57696	GRCh38/hg38 3p26.1-25.3(chr3:7975734-9038133)x3	CAV3, LINC00312 +23 more	Copy number gain	See cases	GUncertain significance
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	ANKRD28, ARL8B +962 more	Copy number gain	See cases	GPathogenic
Select item 8283	NM_033337.3(CAV3):c.80G>A (p.Arg27Gln)	CAV3, SSUH2 (R27Q)	Single nucleotide variant (missense variant)	Distal myopathy, Tateyama type +6 more	GPathogenic

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Links from Gene

Items: 93