ClinVar for Gene (Select 57794) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3323566	NM_172231.4(SUGP1):c.1081C>T (p.Pro361Ser)	SUGP1 (P361S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323565	NM_172231.4(SUGP1):c.398G>C (p.Gly133Ala)	SUGP1 (G133A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323564	NM_172231.4(SUGP1):c.1208A>G (p.Gln403Arg)	SUGP1 (Q403R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323563	NM_172231.4(SUGP1):c.1126G>A (p.Ala376Thr)	SUGP1 (A376T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3171982	NM_172231.4(SUGP1):c.997G>C (p.Gly333Arg)	SUGP1 (G333R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171981	NM_172231.4(SUGP1):c.929G>A (p.Arg310Gln)	SUGP1 (R310Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171980	NM_172231.4(SUGP1):c.781G>A (p.Glu261Lys)	SUGP1 (E261K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171979	NM_172231.4(SUGP1):c.727A>G (p.Lys243Glu)	SUGP1 (K243E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171978	NM_172231.4(SUGP1):c.631A>C (p.Met211Leu)	SUGP1 (M211L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171977	NM_172231.4(SUGP1):c.601G>A (p.Glu201Lys)	SUGP1 (E201K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171976	NM_172231.4(SUGP1):c.536A>G (p.Lys179Arg)	SUGP1 (K179R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171975	NM_172231.4(SUGP1):c.485A>G (p.Gln162Arg)	SUGP1 (Q162R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171974	NM_172231.4(SUGP1):c.395C>T (p.Thr132Ile)	SUGP1 (T132I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171973	NM_172231.4(SUGP1):c.326C>T (p.Ala109Val)	SUGP1 (A109V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171972	NM_172231.4(SUGP1):c.205G>A (p.Glu69Lys)	SUGP1 (E69K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171971	NM_172231.4(SUGP1):c.1891C>T (p.Arg631Cys)	SUGP1 (R631C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171970	NM_172231.4(SUGP1):c.1818T>G (p.Ile606Met)	SUGP1 (I606M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171969	NM_172231.4(SUGP1):c.1625A>G (p.Lys542Arg)	SUGP1 (K542R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171968	NM_172231.4(SUGP1):c.1282C>G (p.Pro428Ala)	SUGP1 (P428A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171967	NM_172231.4(SUGP1):c.1177A>G (p.Lys393Glu)	SUGP1 (K393E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171966	NM_172231.4(SUGP1):c.1015C>T (p.Pro339Ser)	SUGP1 (P339S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171965	NM_172231.4(SUGP1):c.1006C>T (p.Arg336Cys)	SUGP1 (R336C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062380	GRCh37/hg19 19p13.11-12(chr19:18926463-21100330)x1	ARMC6, ATP13A1 +36 more	Copy number loss	not specified	GUncertain significance
Select item 2649607	NM_172231.4(SUGP1):c.114C>T (p.Leu38=)	SUGP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649606	NM_172231.4(SUGP1):c.495C>T (p.Asp165=)	SUGP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2618877	NM_172231.4(SUGP1):c.460G>T (p.Val154Leu)	SUGP1 (V154L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614946	NM_172231.4(SUGP1):c.1063G>T (p.Ala355Ser)	SUGP1 (A355S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559120	NM_172231.4(SUGP1):c.719A>G (p.Glu240Gly)	SUGP1 (E240G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550973	NM_172231.4(SUGP1):c.118G>A (p.Ala40Thr)	SUGP1 (A40T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546601	NM_172231.4(SUGP1):c.235A>T (p.Ile79Phe)	SUGP1 (I79F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546600	NM_172231.4(SUGP1):c.230C>T (p.Ser77Phe)	SUGP1 (S77F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546453	NM_172231.4(SUGP1):c.1919C>G (p.Pro640Arg)	SUGP1 (P640R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538271	NM_172231.4(SUGP1):c.1231T>C (p.Ser411Pro)	SUGP1 (S411P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535704	NM_172231.4(SUGP1):c.974G>T (p.Gly325Val)	SUGP1 (G325V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534009	NM_172231.4(SUGP1):c.382A>C (p.Ile128Leu)	SUGP1 (I128L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2513621	NM_172231.4(SUGP1):c.1424C>A (p.Ala475Glu)	SUGP1 (A475E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478417	NM_172231.4(SUGP1):c.1667A>G (p.Lys556Arg)	SUGP1 (K556R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472941	NM_172231.4(SUGP1):c.1108C>T (p.Pro370Ser)	SUGP1 (P370S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394600	NM_172231.4(SUGP1):c.728A>G (p.Lys243Arg)	SUGP1 (K243R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377963	NM_172231.4(SUGP1):c.908G>A (p.Ser303Asn)	SUGP1 (S303N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365818	NM_172231.4(SUGP1):c.361G>A (p.Ala121Thr)	SUGP1 (A121T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2351805	NM_172231.4(SUGP1):c.13A>G (p.Met5Val)	SUGP1 (M5V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348730	NM_172231.4(SUGP1):c.778G>A (p.Asp260Asn)	SUGP1 (D260N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335542	NM_172231.4(SUGP1):c.1415G>T (p.Trp472Leu)	SUGP1 (W472L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329569	NM_172231.4(SUGP1):c.1837T>G (p.Ser613Ala)	SUGP1 (S613A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328618	NM_172231.4(SUGP1):c.1189C>G (p.Pro397Ala)	SUGP1 (P397A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319699	NM_172231.4(SUGP1):c.174G>T (p.Gln58His)	SUGP1 (Q58H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316010	NM_172231.4(SUGP1):c.1082C>G (p.Pro361Arg)	SUGP1 (P361R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309289	NM_172231.4(SUGP1):c.593T>C (p.Phe198Ser)	SUGP1 (F198S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304982	NM_172231.4(SUGP1):c.1370T>C (p.Met457Thr)	SUGP1 (M457T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291710	NM_172231.4(SUGP1):c.734C>T (p.Ala245Val)	SUGP1 (A245V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275145	NM_172231.4(SUGP1):c.289C>G (p.Gln97Glu)	SUGP1 (Q97E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256357	NM_172231.4(SUGP1):c.860A>G (p.Gln287Arg)	SUGP1 (Q287R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249093	NM_172231.4(SUGP1):c.946T>A (p.Phe316Ile)	SUGP1 (F316I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809253	GRCh37/hg19 19p13.11(chr19:19218464-19494045)x3	BORCS8, HAPLN4 +9 more	Copy number gain	not provided	GUncertain significance
Select item 1244931	NM_172231.4(SUGP1):c.1365C>T (p.Tyr455=)	SUGP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 688890	GRCh37/hg19 19p13.11(chr19:19230490-19440304)x3	BORCS8, HAPLN4 +8 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 392685	NM_172231.4(SUGP1):c.1282C>A (p.Pro428Thr)	SUGP1 (P428T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 221350	chr19:19230868-24115369 complex variant	ATP13A1, BORCS8 +49 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 66