ClinVar for Gene (Select 27036) - ClinVar

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Links from Gene

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3162215	NM_014385.4(SIGLEC7):c.134G>A (p.Arg45His)	SIGLEC7 (R45H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162214	NM_014385.4(SIGLEC7):c.1322G>A (p.Ser441Asn)	LOC101928517, SIGLEC7 (S441N +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3162213	NM_014385.4(SIGLEC7):c.1220A>G (p.Gln407Arg)	SIGLEC7 (Q407R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3162212	NM_014385.4(SIGLEC7):c.1197C>G (p.Asn399Lys)	SIGLEC7 (N306K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3162211	NM_014385.4(SIGLEC7):c.1061G>C (p.Gly354Ala)	SIGLEC7 (G354A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162210	NM_014385.4(SIGLEC7):c.1035G>A (p.Met345Ile)	SIGLEC7 (M252I +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 2558788	NM_014385.4(SIGLEC7):c.494A>G (p.Asn165Ser)	SIGLEC7 (N165S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542304	NM_014385.4(SIGLEC7):c.1370A>G (p.Asn457Ser)	LOC101928517, SIGLEC7 (N364S +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2532180	NM_014385.4(SIGLEC7):c.508G>A (p.Val170Met)	SIGLEC7 (V170M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512885	NM_014385.4(SIGLEC7):c.696C>G (p.Ile232Met)	SIGLEC7 (I232M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512121	NM_014385.4(SIGLEC7):c.1231A>T (p.Thr411Ser)	LOC101928517, SIGLEC7 (T318S +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2509745	NM_014385.4(SIGLEC7):c.1332G>C (p.Lys444Asn)	LOC101928517, SIGLEC7 (K351N +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2496369	NM_014385.4(SIGLEC7):c.146C>G (p.Ser49Cys)	SIGLEC7 (S49C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461155	NM_014385.4(SIGLEC7):c.529G>A (p.Gly177Arg)	SIGLEC7 (G177R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410038	NM_014385.4(SIGLEC7):c.353C>T (p.Ala118Val)	SIGLEC7 (A118V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392844	NM_014385.4(SIGLEC7):c.592C>T (p.Arg198Cys)	SIGLEC7 (R198C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376633	NM_014385.4(SIGLEC7):c.1210T>C (p.Ser404Pro)	SIGLEC7 (S311P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2369456	NM_014385.4(SIGLEC7):c.275G>A (p.Arg92Gln)	SIGLEC7 (R92Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358194	NM_014385.4(SIGLEC7):c.533C>T (p.Thr178Met)	SIGLEC7 (T178M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350000	NM_014385.4(SIGLEC7):c.630C>G (p.His210Gln)	SIGLEC7 (H210Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342347	NM_014385.4(SIGLEC7):c.1168G>A (p.Val390Met)	SIGLEC7 (V297M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2332846	NM_014385.4(SIGLEC7):c.1069G>A (p.Gly357Arg)	SIGLEC7 (G357R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327948	NM_014385.4(SIGLEC7):c.1154G>A (p.Arg385Lys)	SIGLEC7 (R385K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2292280	NM_014385.4(SIGLEC7):c.1112T>A (p.Val371Asp)	SIGLEC7 (V278D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281345	NM_014385.4(SIGLEC7):c.427G>A (p.Val143Met)	SIGLEC7 (V143M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236551	NM_014385.4(SIGLEC7):c.805G>C (p.Gly269Arg)	SIGLEC7 (G269R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231738	NM_014385.4(SIGLEC7):c.128A>C (p.His43Pro)	SIGLEC7 (H43P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205610	NM_014385.4(SIGLEC7):c.289C>T (p.Leu97Phe)	SIGLEC7 (L97F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809326	GRCh37/hg19 19q13.41(chr19:51623330-51694022)x1	SIGLEC7, SIGLEC9	Copy number loss	not provided	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	FLT3LG, FPR1 +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	FUZ, GARIN5A +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	CLDND2, IGSF23 +293 more	Copy number gain	not provided	GPathogenic
Select item 777506	NM_014385.4(SIGLEC7):c.541A>G (p.Met181Val)	SIGLEC7 (M181V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +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 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	A1BG, A1BG-AS1 +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	MIR10394, MIR125A +806 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LILRA4, LILRA5 +761 more	Copy number gain	See cases	GPathogenic

ClinVar

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Germline classification

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Links from Gene

Items: 45