SIGLEC12[gene] - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 155383	GRCh38/hg38 19q13.41(chr19:51202361-51993020)x3	C19orf84, CD33 +62 more	Copy number gain	See cases	GUncertain significance
Select item 3318495	NM_053003.4(SIGLEC12):c.1747G>T (p.Ala583Ser)	SIGLEC12 (A465S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318497	NM_053003.4(SIGLEC12):c.1641C>A (p.His547Gln)	SIGLEC12 (H547Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162182	NM_053003.4(SIGLEC12):c.1637C>T (p.Pro546Leu)	SIGLEC12 (P496L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268436	NM_053003.4(SIGLEC12):c.1606C>A (p.Leu536Met)	SIGLEC12 (L486M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162181	NM_053003.4(SIGLEC12):c.1601G>T (p.Gly534Val)	SIGLEC12 (G484V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378372	NM_053003.4(SIGLEC12):c.1577C>T (p.Ala526Val)	SIGLEC12 (A408V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385611	NM_053003.4(SIGLEC12):c.1576G>A (p.Ala526Thr)	SIGLEC12 (A476T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239196	NM_053003.4(SIGLEC12):c.1570G>A (p.Ala524Thr)	SIGLEC12 (A406T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162180	NM_053003.4(SIGLEC12):c.1563G>A (p.Met521Ile)	SIGLEC12 (M471I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162179	NM_053003.4(SIGLEC12):c.1552G>A (p.Asp518Asn)	SIGLEC12 (D400N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536529	NM_053003.4(SIGLEC12):c.1546G>T (p.Val516Leu)	SIGLEC12 (V398L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569736	NM_053003.4(SIGLEC12):c.1510T>C (p.Ser504Pro)	SIGLEC12 (S504P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162178	NM_053003.4(SIGLEC12):c.1508G>A (p.Arg503Lys)	SIGLEC12 (R385K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295598	NM_053003.4(SIGLEC12):c.1485C>G (p.Phe495Leu)	SIGLEC12 (F377L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162177	NM_053003.4(SIGLEC12):c.1472T>C (p.Val491Ala)	SIGLEC12 (V441A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464377	NM_053003.4(SIGLEC12):c.1463C>T (p.Thr488Ile)	SIGLEC12 (T370I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373885	NM_053003.4(SIGLEC12):c.1439G>A (p.Gly480Glu)	SIGLEC12 (G430E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268349	NM_053003.4(SIGLEC12):c.1361C>T (p.Ser454Phe)	SIGLEC12 (S336F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162176	NM_053003.4(SIGLEC12):c.1350C>A (p.Asn450Lys)	SIGLEC12 (N400K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261348	NM_053003.4(SIGLEC12):c.1340G>A (p.Arg447Gln)	SIGLEC12 (R329Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162174	NM_053003.4(SIGLEC12):c.1309C>T (p.His437Tyr)	SIGLEC12 (H437Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162173	NM_053003.4(SIGLEC12):c.1280A>G (p.Asn427Ser)	SIGLEC12 (N377S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289732	NM_053003.4(SIGLEC12):c.1264C>T (p.Pro422Ser)	SIGLEC12 (P422S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284354	NM_053003.4(SIGLEC12):c.1208T>C (p.Val403Ala)	SIGLEC12 (V403A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340554	NM_053003.4(SIGLEC12):c.1205C>T (p.Ala402Val)	SIGLEC12 (A402V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3162172	NM_053003.4(SIGLEC12):c.1171G>C (p.Val391Leu)	SIGLEC12 (V273L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650377	NM_053003.4(SIGLEC12):c.1161G>C (p.Ser387=)	SIGLEC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3162171	NM_053003.4(SIGLEC12):c.1155T>G (p.Asn385Lys)	SIGLEC12 (N267K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204599	NM_053003.4(SIGLEC12):c.1105A>C (p.Thr369Pro)	SIGLEC12 (T251P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238395	NM_053003.4(SIGLEC12):c.1094C>T (p.Pro365Leu)	SIGLEC12 (P247L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162170	NM_053003.4(SIGLEC12):c.1059G>A (p.Met353Ile)	SIGLEC12 (M303I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397281	NM_053003.4(SIGLEC12):c.1057A>G (p.Met353Val)	SIGLEC12 (M303V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162169	NM_053003.4(SIGLEC12):c.1048G>A (p.Gly350Ser)	SIGLEC12 (G350S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276487	NM_053003.4(SIGLEC12):c.1045G>A (p.Ala349Thr)	SIGLEC12 (A299T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347238	NM_053003.4(SIGLEC12):c.940G>A (p.Val314Met)	SIGLEC12 (V264M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790211	NM_053003.4(SIGLEC12):c.933G>A (p.Gly311=)	SIGLEC12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2381516	NM_053003.4(SIGLEC12):c.917C>T (p.Thr306Met)	SIGLEC12 (T256M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162191	NM_053003.4(SIGLEC12):c.878G>T (p.Cys293Phe)	SIGLEC12 (C175F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224581	NM_053003.4(SIGLEC12):c.870C>G (p.Asn290Lys)	SIGLEC12 (N240K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557211	NM_053003.4(SIGLEC12):c.767A>G (p.Lys256Arg)	SIGLEC12 (K138R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262763	NM_053003.4(SIGLEC12):c.752A>G (p.Glu251Gly)	SIGLEC12 (E133G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162189	NM_053003.4(SIGLEC12):c.721G>T (p.Gly241Trp)	SIGLEC12 (G123W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162188	NM_053003.4(SIGLEC12):c.682A>T (p.Thr228Ser)	SIGLEC12 (T178S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162187	NM_053003.4(SIGLEC12):c.634G>T (p.Val212Leu)	SIGLEC12 (V212L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318498	NM_053003.4(SIGLEC12):c.607G>A (p.Val203Met)	SIGLEC12 (V85M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463129	NM_053003.4(SIGLEC12):c.602T>G (p.Ile201Ser)	SIGLEC12 (I83S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162186	NM_053003.4(SIGLEC12):c.586G>A (p.Asp196Asn)	SIGLEC12 (D146N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456918	NM_053003.4(SIGLEC12):c.514A>T (p.Ser172Cys)	SIGLEC12 (S54C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318496	NM_053003.4(SIGLEC12):c.493C>G (p.Leu165Val)	SIGLEC12 (L165V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162184	NM_053003.4(SIGLEC12):c.265A>T (p.Thr89Ser)	SIGLEC12 (T89S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162183	NM_053003.4(SIGLEC12):c.202G>A (p.Asp68Asn)	SIGLEC12 (D68N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 403443	NM_053003.4(SIGLEC12):c.196dup (p.Ala66fs)	SIGLEC12 (A66fs)	Duplication (frameshift variant)	not specified	GBenign
Select item 2536179	NM_053003.4(SIGLEC12):c.194G>A (p.Arg65Gln)	SIGLEC12 (R65Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771041	NM_053003.4(SIGLEC12):c.150A>G (p.Gln50=)	SIGLEC12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2222556	NM_053003.4(SIGLEC12):c.143A>G (p.Tyr48Cys)	SIGLEC12 (Y48C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603306	NM_053003.4(SIGLEC12):c.142T>C (p.Tyr48His)	SIGLEC12 (Y48H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162175	NM_053003.4(SIGLEC12):c.134C>A (p.Ser45Tyr)	SIGLEC12 (S45Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455790	NM_053003.4(SIGLEC12):c.122C>T (p.Ser41Phe)	SIGLEC12 (S41F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162190	NM_053003.4(SIGLEC12):c.80C>A (p.Thr27Lys)	SIGLEC12 (T27K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282049	NM_053003.4(SIGLEC12):c.67G>T (p.Asp23Tyr)	SIGLEC12 (D23Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162185	NM_053003.4(SIGLEC12):c.55A>G (p.Lys19Glu)	SIGLEC12 (K19E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 1526670	GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438)	FPR3, ZNF577 +115 more	Copy number gain	not specified	GLikely pathogenic
Select item 1340619	GRCh37/hg19 19q13.41(chr19:51769834-52415762)x3	CEACAM18, CLDND2 +21 more	Copy number gain	not provided	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
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 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic

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Items: 77