ClinVar for Gene (Select 946) - ClinVar

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

Links from Gene

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
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 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 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 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 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 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 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 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 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 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 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 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 789352	NM_001245.7(SIGLEC6):c.292G>T (p.Asp98Tyr)	SIGLEC6 (D98Y +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 712817	NM_001245.7(SIGLEC6):c.64G>C (p.Ala22Pro)	SIGLEC6 (A22P)	Single nucleotide variant (missense variant)	not provided	GBenign
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
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 155383	GRCh38/hg38 19q13.41(chr19:51202361-51993020)x3	C19orf84, CD33 +62 more	Copy number gain	See cases	GUncertain significance
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 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 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 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
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 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 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: 45