ClinVar for Gene (Select 284369) - ClinVar

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Links from Gene

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3318517	NM_001385465.1(SIGLECL1):c.136G>A (p.Val46Met)	SIGLECL1 (V46M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162240	NM_001385465.1(SIGLECL1):c.365C>A (p.Ala122Glu)	SIGLECL1 (A122E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162239	NM_001385465.1(SIGLECL1):c.305G>C (p.Arg102Thr)	SIGLECL1 (G8A +1 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 2650369	NM_001385465.1(SIGLECL1):c.306A>G (p.Arg102=)	SIGLECL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2537850	NM_001385465.1(SIGLECL1):c.335T>G (p.Val112Gly)	SIGLECL1 (V18G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2424337	NC_000019.9:g.(?_51727962)_(51890697_?)del	CD33, CLDND2 +6 more	Deletion	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 2383293	NM_001385465.1(SIGLECL1):c.380C>T (p.Ala127Val)	SIGLECL1 (A127V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358240	NM_001385465.1(SIGLECL1):c.560G>A (p.Arg187Gln)	SIGLECL1 (R93Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2333825	NM_001385465.1(SIGLECL1):c.271G>A (p.Gly91Arg)	SIGLECL1 (G91R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2289220	NM_001385465.1(SIGLECL1):c.541G>A (p.Ala181Thr)	SIGLECL1 (A181T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2271152	NM_001385465.1(SIGLECL1):c.389T>C (p.Phe130Ser)	SIGLECL1 (F130S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249969	NM_001385465.1(SIGLECL1):c.103C>A (p.Pro35Thr)	SIGLECL1 (P35T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206617	NM_001385465.1(SIGLECL1):c.201C>G (p.Asn67Lys)	SIGLECL1 (N67K)	Single nucleotide variant (missense variant +1 more)	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 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 816089	GRCh37/hg19 19q13.33-13.41(chr19:50469730-51916485)x3	ACP4, ASPDH +46 more	Copy number gain	not provided	GUncertain significance
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
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

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Links from Gene

Items: 29