18643[HGNC] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 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
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 3171971	NM_172231.4(SUGP1):c.1891C>T (p.Arg631Cys)	SUGP1 (R631C)	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 3171970	NM_172231.4(SUGP1):c.1818T>G (p.Ile606Met)	SUGP1 (I606M)	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 3171969	NM_172231.4(SUGP1):c.1625A>G (p.Lys542Arg)	SUGP1 (K542R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2335542	NM_172231.4(SUGP1):c.1415G>T (p.Trp472Leu)	SUGP1 (W472L)	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 1244931	NM_172231.4(SUGP1):c.1365C>T (p.Tyr455=)	SUGP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 392685	NM_172231.4(SUGP1):c.1282C>A (p.Pro428Thr)	SUGP1 (P428T)	Single nucleotide variant (missense variant)	not provided	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 3323564	NM_172231.4(SUGP1):c.1208A>G (p.Gln403Arg)	SUGP1 (Q403R)	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 3171967	NM_172231.4(SUGP1):c.1177A>G (p.Lys393Glu)	SUGP1 (K393E)	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 2472941	NM_172231.4(SUGP1):c.1108C>T (p.Pro370Ser)	SUGP1 (P370S)	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 3323566	NM_172231.4(SUGP1):c.1081C>T (p.Pro361Ser)	SUGP1 (P361S)	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 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 3171982	NM_172231.4(SUGP1):c.997G>C (p.Gly333Arg)	SUGP1 (G333R)	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 2249093	NM_172231.4(SUGP1):c.946T>A (p.Phe316Ile)	SUGP1 (F316I)	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 2377963	NM_172231.4(SUGP1):c.908G>A (p.Ser303Asn)	SUGP1 (S303N)	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 3171980	NM_172231.4(SUGP1):c.781G>A (p.Glu261Lys)	SUGP1 (E261K)	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 2291710	NM_172231.4(SUGP1):c.734C>T (p.Ala245Val)	SUGP1 (A245V)	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 3171979	NM_172231.4(SUGP1):c.727A>G (p.Lys243Glu)	SUGP1 (K243E)	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 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 2309289	NM_172231.4(SUGP1):c.593T>C (p.Phe198Ser)	SUGP1 (F198S)	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 2649606	NM_172231.4(SUGP1):c.495C>T (p.Asp165=)	SUGP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2618877	NM_172231.4(SUGP1):c.460G>T (p.Val154Leu)	SUGP1 (V154L)	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 3171974	NM_172231.4(SUGP1):c.395C>T (p.Thr132Ile)	SUGP1 (T132I)	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 2365818	NM_172231.4(SUGP1):c.361G>A (p.Ala121Thr)	SUGP1 (A121T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2275145	NM_172231.4(SUGP1):c.289C>G (p.Gln97Glu)	SUGP1 (Q97E)	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 3171972	NM_172231.4(SUGP1):c.205G>A (p.Glu69Lys)	SUGP1 (E69K)	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 2550973	NM_172231.4(SUGP1):c.118G>A (p.Ala40Thr)	SUGP1 (A40T)	Single nucleotide variant (missense variant)	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 2351805	NM_172231.4(SUGP1):c.13A>G (p.Met5Val)	SUGP1 (M5V)	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 1809253	GRCh37/hg19 19p13.11(chr19:19218464-19494045)x3	BORCS8, HAPLN4 +9 more	Copy number gain	not provided	GUncertain significance
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 221350	chr19:19230868-24115369 complex variant	ATP13A1, BORCS8 +49 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 66