ClinVar for Gene (Select 100129083) - ClinVar

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

Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3318485	NM_033130.5(SIGLEC10):c.944C>A (p.Ala315Asp)	SIGLEC10, SIGLEC10-AS1 (A267D +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3318481	NM_033130.5(SIGLEC10):c.397G>A (p.Asp133Asn)	SIGLEC10, SIGLEC10-AS1 (D133N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3318479	NM_033130.5(SIGLEC10):c.686C>G (p.Thr229Ser)	SIGLEC10, SIGLEC10-AS1 (T181S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3318474	NM_033130.5(SIGLEC10):c.773A>C (p.Gln258Pro)	SIGLEC10, SIGLEC10-AS1 (Q210P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162142	NM_033130.5(SIGLEC10):c.914C>T (p.Pro305Leu)	SIGLEC10, SIGLEC10-AS1 (P247L +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3162141	NM_033130.5(SIGLEC10):c.797C>T (p.Ala266Val)	SIGLEC10, SIGLEC10-AS1 (A208V +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GLikely benign
Select item 3162140	NM_033130.5(SIGLEC10):c.65G>T (p.Trp22Leu)	SIGLEC10, SIGLEC10-AS1 (W22L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3162139	NM_033130.5(SIGLEC10):c.575C>A (p.Pro192Gln)	SIGLEC10, SIGLEC10-AS1 (P144Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162138	NM_033130.5(SIGLEC10):c.547G>A (p.Ala183Thr)	SIGLEC10, SIGLEC10-AS1 (A183T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2650376	NM_033130.5(SIGLEC10):c.939G>A (p.Val313=)	SIGLEC10, SIGLEC10-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2650375	NM_033130.5(SIGLEC10):c.941A>G (p.Lys314Arg)	SIGLEC10, SIGLEC10-AS1 (K256R +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2650374	NM_033130.5(SIGLEC10):c.945T>C (p.Ala315=)	SIGLEC10, SIGLEC10-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2590381	NM_033130.5(SIGLEC10):c.688G>T (p.Val230Phe)	SIGLEC10, SIGLEC10-AS1 (V230F +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2568775	NM_033130.5(SIGLEC10):c.259C>T (p.Arg87Trp)	SIGLEC10, SIGLEC10-AS1 (R87W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2554685	NM_033130.5(SIGLEC10):c.449T>C (p.Ile150Thr)	SIGLEC10, SIGLEC10-AS1 (I150T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554013	NM_033130.5(SIGLEC10):c.244G>C (p.Val82Leu)	SIGLEC10, SIGLEC10-AS1 (V82L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2520767	NM_033130.5(SIGLEC10):c.920G>A (p.Gly307Glu)	SIGLEC10, SIGLEC10-AS1 (G249E +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GLikely benign
Select item 2489339	NM_033130.5(SIGLEC10):c.191T>C (p.Val64Ala)	SIGLEC10, SIGLEC10-AS1 (V64A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2477725	NM_033130.5(SIGLEC10):c.127T>C (p.Phe43Leu)	SIGLEC10, SIGLEC10-AS1 (F43L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2409198	NM_033130.5(SIGLEC10):c.71G>A (p.Arg24Gln)	SIGLEC10, SIGLEC10-AS1 (R24Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2334546	NM_033130.5(SIGLEC10):c.668G>C (p.Gly223Ala)	SIGLEC10, SIGLEC10-AS1 (G175A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2319906	NM_033130.5(SIGLEC10):c.53A>G (p.Asp18Gly)	SIGLEC10, SIGLEC10-AS1 (D18G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2306823	NM_033130.5(SIGLEC10):c.466C>T (p.Pro156Ser)	SIGLEC10, SIGLEC10-AS1 (P156S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267967	NM_033130.5(SIGLEC10):c.268T>C (p.Phe90Leu)	SIGLEC10, SIGLEC10-AS1 (F90L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2267444	NM_033130.5(SIGLEC10):c.491G>T (p.Cys164Phe)	SIGLEC10, SIGLEC10-AS1 (C164F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210947	NM_033130.5(SIGLEC10):c.26C>T (p.Ser9Leu)	SIGLEC10, SIGLEC10-AS1 (S9L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2205962	NM_033130.5(SIGLEC10):c.152C>T (p.Thr51Ile)	SIGLEC10, SIGLEC10-AS1 (T51I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 775584	NM_033130.5(SIGLEC10):c.422-6T>C	SIGLEC10, SIGLEC10-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 773360	NM_033130.5(SIGLEC10):c.628A>G (p.Asn210Asp)	SIGLEC10, SIGLEC10-AS1 (N210D +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 769046	NM_033130.5(SIGLEC10):c.144= (p.Gln48=)	SIGLEC10, SIGLEC10-AS1	Variation (non-coding transcript variant +1 more)	not provided	GBenign
Select item 723714	NM_033130.5(SIGLEC10):c.561C>T (p.Ser187=)	SIGLEC10, SIGLEC10-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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: 38