ClinVar for Gene (Select 8744) - ClinVar

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Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3327550	NM_003811.4(TNFSF9):c.124G>C (p.Ala42Pro)	TNFSF9 (A42P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242628	NC_000019.9:g.(?_5691310)_(8008536_?)dup	ACER1, ACSBG2 +65 more	Duplication	not provided	GUncertain significance
Select item 3180345	NM_003811.4(TNFSF9):c.692G>A (p.Gly231Asp)	LOC130063305, TNFSF9 (G231D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180344	NM_003811.4(TNFSF9):c.625G>A (p.Gly209Ser)	LOC130063305, TNFSF9 (G209S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180343	NM_003811.4(TNFSF9):c.604C>G (p.Arg202Gly)	LOC130063305, TNFSF9 (R202G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180342	NM_003811.4(TNFSF9):c.194C>G (p.Ala65Gly)	LOC130063303, TNFSF9 (A65G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180341	NM_003811.4(TNFSF9):c.10G>A (p.Ala4Thr)	LOC130063302, TNFSF9 (A4T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 2649141	NM_003811.4(TNFSF9):c.124G>A (p.Ala42Thr)	TNFSF9 (A42T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2531787	NM_003811.4(TNFSF9):c.154C>T (p.Pro52Ser)	TNFSF9 (P52S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514778	NM_003811.4(TNFSF9):c.673G>A (p.Ala225Thr)	LOC130063305, TNFSF9 (A225T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2444022	NM_003811.4(TNFSF9):c.419T>G (p.Val140Gly)	TNFSF9 (V140G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2426564	NC_000019.9:g.(?_6361586)_(8212364_?)del	CRB3, CTXN1 +51 more	Deletion	Mucolipidosis type IV	GPathogenic
Select item 2380113	NM_003811.4(TNFSF9):c.16G>A (p.Asp6Asn)	LOC130063302, TNFSF9 (D6N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374260	NM_003811.4(TNFSF9):c.362C>T (p.Thr121Met)	TNFSF9 (T121M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278704	NM_003811.4(TNFSF9):c.76G>C (p.Val26Leu)	TNFSF9 (V26L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2253056	NM_003811.4(TNFSF9):c.331A>G (p.Ser111Gly)	TNFSF9 (S111G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 980754	GRCh37/hg19 19p13.3(chr19:6096399-6699729)x3	ACER1, ACSBG2 +16 more	Copy number gain	not provided	GUncertain significance
Select item 816063	GRCh37/hg19 19p13.3(chr19:6246138-6823741)x3	TNFSF14, SH2D3A +18 more	Copy number gain	not provided	GUncertain significance
Select item 816062	GRCh37/hg19 19p13.3(chr19:5949772-6699729)x3	MLLT1, ACER1 +17 more	Copy number gain	not provided	GUncertain significance
Select item 716716	NM_003811.4(TNFSF9):c.416G>C (p.Gly139Ala)	TNFSF9 (G139A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 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 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 150491	GRCh38/hg38 19p13.3-13.2(chr19:5905175-6916287)x3	ACER1, ACSBG2 +113 more	Copy number gain	See cases	GUncertain significance
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 27