SIGLEC6[gene] - ClinVar

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Items: 45

	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 2260044	NM_001245.7(SIGLEC6):c.1327G>A (p.Asp443Asn)	SIGLEC6 (D391N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2529211	NM_001245.7(SIGLEC6):c.1321G>T (p.Val441Phe)	SIGLEC6 (V441F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525835	NM_001245.7(SIGLEC6):c.1231C>A (p.Pro411Thr)	SIGLEC6 (P341H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236009	NM_001245.7(SIGLEC6):c.1210A>G (p.Thr404Ala)	SIGLEC6 (T352A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217866	NM_001245.7(SIGLEC6):c.1168G>A (p.Val390Ile)	SIGLEC6 (V390I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162204	NM_001245.7(SIGLEC6):c.1081T>G (p.Phe361Val)	SIGLEC6 (F345V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 729001	NM_001245.7(SIGLEC6):c.1037G>A (p.Gly346Asp)	SIGLEC6 (G357D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3162203	NM_001245.7(SIGLEC6):c.1030G>A (p.Ala344Thr)	SIGLEC6 (A328T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318506	NM_001245.7(SIGLEC6):c.1025G>T (p.Gly342Val)	SIGLEC6 (G342V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275732	NM_001245.7(SIGLEC6):c.884C>T (p.Ala295Val)	SIGLEC6 (A243V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 219341	NM_001245.7(SIGLEC6):c.883G>T (p.Ala295Ser)	SIGLEC6 (A243S +4 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 3318507	NM_001245.7(SIGLEC6):c.844G>A (p.Ala282Thr)	SIGLEC6 (A230T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321070	NM_001245.7(SIGLEC6):c.689T>C (p.Ile230Thr)	SIGLEC6 (I219T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212848	NM_001245.7(SIGLEC6):c.667G>A (p.Gly223Ser)	SIGLEC6 (G212S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318505	NM_001245.7(SIGLEC6):c.593C>T (p.Ser198Leu)	SIGLEC6 (S198L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162209	NM_001245.7(SIGLEC6):c.529C>T (p.Pro177Ser)	SIGLEC6 (P141S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373901	NM_001245.7(SIGLEC6):c.527C>T (p.Thr176Met)	SIGLEC6 (T140M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478511	NM_001245.7(SIGLEC6):c.521A>G (p.Gln174Arg)	SIGLEC6 (Q138R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456916	NM_001245.7(SIGLEC6):c.452C>G (p.Ser151Cys)	SIGLEC6 (S151C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358575	NM_001245.7(SIGLEC6):c.404C>T (p.Ser135Phe)	SIGLEC6 (S99F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162208	NM_001245.7(SIGLEC6):c.391G>A (p.Gly131Ser)	SIGLEC6 (G95S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375228	NM_001245.7(SIGLEC6):c.382A>T (p.Met128Leu)	SIGLEC6 (M128L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162207	NM_001245.7(SIGLEC6):c.319A>G (p.Ser107Gly)	SIGLEC6 (S71G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162206	NM_001245.7(SIGLEC6):c.310T>C (p.Cys104Arg)	SIGLEC6 (C104R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789352	NM_001245.7(SIGLEC6):c.292G>T (p.Asp98Tyr)	SIGLEC6 (D98Y +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2523037	NM_001245.7(SIGLEC6):c.268C>T (p.Arg90Trp)	SIGLEC6 (R54W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509744	NM_001245.7(SIGLEC6):c.148C>T (p.Pro50Ser)	SIGLEC6 (P50S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162205	NM_001245.7(SIGLEC6):c.112T>G (p.Ser38Ala)	SIGLEC6 (S38A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 712817	NM_001245.7(SIGLEC6):c.64G>C (p.Ala22Pro)	SIGLEC6 (A22P)	Single nucleotide variant (missense variant)	not provided	GBenign
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: 45