282617[geneid] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 3108309	NM_172139.4(IFNL3):c.563G>A (p.Cys188Tyr)	IFNL3 (C188Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265421	NM_172139.4(IFNL3):c.551G>A (p.Arg184Gln)	IFNL3 (R188Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246289	NM_172139.4(IFNL3):c.542T>G (p.Leu181Arg)	IFNL3 (L181R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541760	NM_172139.4(IFNL3):c.541C>T (p.Leu181Phe)	IFNL3 (L185F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770465	NM_172139.4(IFNL3):c.511G>A (p.Glu171Lys)	IFNL3 (E171K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2511453	NM_172139.4(IFNL3):c.491A>C (p.Lys164Thr)	IFNL3 (K168T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598050	NM_172139.4(IFNL3):c.487A>G (p.Lys163Glu)	IFNL3 (K163E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108308	NM_172139.4(IFNL3):c.477G>C (p.Gln159His)	IFNL3 (Q159H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108307	NM_172139.4(IFNL3):c.473T>C (p.Leu158Pro)	IFNL3 (L158P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771518	NM_172139.4(IFNL3):c.466C>T (p.His156Tyr)	IFNL3 (H160Y +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3285381	NM_172139.4(IFNL3):c.455A>G (p.His152Arg)	IFNL3 (H152R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517530	NM_172139.4(IFNL3):c.451C>T (p.Leu151Phe)	IFNL3 (L155F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315334	NM_172139.4(IFNL3):c.449G>A (p.Arg150His)	IFNL3 (R150H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405686	NM_172139.4(IFNL3):c.443G>A (p.Arg148Gln)	IFNL3 (R148Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788661	NM_172139.4(IFNL3):c.322A>G (p.Thr108Ala)	IFNL3 (T108A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 710145	NM_172139.4(IFNL3):c.283G>C (p.Glu95Gln)	IFNL3 (E95Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3285382	NM_172139.4(IFNL3):c.273C>T (p.Pro91=)	IFNL3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2321800	NM_172139.4(IFNL3):c.268C>T (p.Arg90Cys)	IFNL3 (R90C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 375658	NM_172139.4(IFNL3):c.259-126T>C	IFNL3	Single nucleotide variant (intron variant)	peginterferon alfa-2a response - Efficacy +2 more	Gdrug response
Select item 3108304	NM_172139.4(IFNL3):c.252G>C (p.Gln84His)	IFNL3 (Q84H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768989	NM_172139.4(IFNL3):c.215G>A (p.Arg72His)	IFNL3 (R72H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 511091	NM_172139.4(IFNL3):c.209A>G (p.Lys70Arg)	IFNL3 (K70R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2489804	NM_172139.4(IFNL3):c.133C>G (p.Leu45Val)	IFNL3 (L49V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108311	NM_172139.4(IFNL3):c.97G>C (p.Asp33His)	IFNL3 (D33H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108310	NM_172139.4(IFNL3):c.80T>A (p.Leu27His)	IFNL3 (L27H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784392	NM_172139.4(IFNL3):c.59G>C (p.Gly20Ala)	IFNL3 (G24A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3108306	NM_172139.4(IFNL3):c.41C>T (p.Ala14Val)	IFNL3 (A18V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343085	NM_172139.4(IFNL3):c.17T>C (p.Met6Thr)	IFNL3 (M6T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 225949	NC_000019.10:g.39248147C>T	IFNL4, IFNL3	Single nucleotide variant	peginterferon alfa-2a, peginterferon alfa-2b, and ribavirin response - Efficacy +2 more	Gdrug response
Select item 226027	NC_000019.10:g.39252525T>G	IFNL3	Single nucleotide variant	peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, and telaprevir response - Efficacy +1 more	Gdrug response
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2424211	NC_000019.9:g.(?_39205089)_(40913839_?)dup	ACP7, ACTN4 +53 more	Duplication	not provided	GUncertain significance
Select item 2423269	NC_000019.9:g.(?_38375572)_(39738787_?)dup	DPF1, ECH1 +34 more	Duplication	RYR1-related disorder	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 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 253452	GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3	DPF1, DYRK1B +105 more	Copy number gain	See cases	GPathogenic

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Items: 40