ClinVar for Gene (Select 79713) - ClinVar

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Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3108653	NM_024660.4(IGFLR1):c.997G>A (p.Ala333Thr)	IGFLR1 (A165T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3108652	NM_024660.4(IGFLR1):c.983T>C (p.Leu328Pro)	IGFLR1 (L160P +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3108651	NM_024660.4(IGFLR1):c.326C>T (p.Pro109Leu)	IGFLR1 (P109L)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3108650	NM_024660.4(IGFLR1):c.242G>T (p.Cys81Phe)	IGFLR1 (C81F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3108648	NM_024660.4(IGFLR1):c.1040T>C (p.Leu347Pro)	IGFLR1 (L179P +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3108647	NM_024660.4(IGFLR1):c.1009C>T (p.Arg337Trp)	IGFLR1 (R149W +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2671623	Single allele	ALKBH6, APLP1 +72 more	Deletion	not provided	GPathogenic
Select item 2606866	NM_024660.4(IGFLR1):c.196G>C (p.Gly66Arg)	IGFLR1 (G66R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2548982	NM_024660.4(IGFLR1):c.317G>A (p.Gly106Asp)	IGFLR1 (G106D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2523074	NM_024660.4(IGFLR1):c.523G>A (p.Val175Met)	IGFLR1 (V175M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2488128	NM_024660.4(IGFLR1):c.784G>A (p.Glu262Lys)	IGFLR1 (E94K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2478201	NM_024660.4(IGFLR1):c.149C>G (p.Pro50Arg)	IGFLR1 (P50R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469260	NM_024660.4(IGFLR1):c.89A>C (p.Glu30Ala)	IGFLR1 (E30A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467436	NM_024660.4(IGFLR1):c.187A>G (p.Asn63Asp)	IGFLR1 (N63D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2456852	NM_024660.4(IGFLR1):c.944T>C (p.Met315Thr)	IGFLR1 (M127T +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	FFAR3, FXYD1 +83 more	Duplication	Hereditary spastic paraplegia 75	GUncertain significance
Select item 2411511	NM_024660.4(IGFLR1):c.755G>A (p.Arg252His)	IGFLR1 (R252H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2387903	NM_024660.4(IGFLR1):c.26C>A (p.Thr9Lys)	IGFLR1 (T9K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366994	NM_024660.4(IGFLR1):c.805C>G (p.Pro269Ala)	IGFLR1 (P269A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2348141	NM_024660.4(IGFLR1):c.898T>C (p.Tyr300His)	IGFLR1 (Y112H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2347690	NM_024660.4(IGFLR1):c.280G>A (p.Gly94Ser)	IGFLR1 (G94S)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2341146	NM_024660.4(IGFLR1):c.1048T>C (p.Ser350Pro)	IGFLR1 (S162P +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2341139	NM_024660.4(IGFLR1):c.1054G>T (p.Val352Phe)	IGFLR1 (V164F +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2336575	NM_024660.4(IGFLR1):c.559C>A (p.Leu187Ile)	IGFLR1 (L187I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2333446	NM_024660.4(IGFLR1):c.202T>A (p.Phe68Ile)	IGFLR1 (F68I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2319682	NM_024660.4(IGFLR1):c.355G>A (p.Ala119Thr)	IGFLR1 (A119T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2291769	NM_024660.4(IGFLR1):c.1025G>A (p.Arg342Gln)	IGFLR1 (R154Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2276885	NM_024660.4(IGFLR1):c.271C>T (p.Pro91Ser)	IGFLR1 (P91S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2243336	NM_024660.4(IGFLR1):c.606G>C (p.Leu202Phe)	IGFLR1 (L202F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2211302	NM_024660.4(IGFLR1):c.769C>A (p.Leu257Met)	IGFLR1 (L257M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1412985	NC_000019.9:g.(?_35521725)_(36643309_?)del	PSENEN, RBM42 +54 more	Deletion	Brugada syndrome 5	GUncertain significance
Select item 1340392	GRCh37/hg19 19q13.12(chr19:36019064-36516110)x3	ALKBH6, APLP1 +28 more	Copy number gain	not provided	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 812929	Single allele	MAG, FXYD5 +33 more	Deletion	Dystonic disorder	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 625761	GRCh37/hg19 19q13.11-13.12(chr19:35043556-36316644)	ARHGAP33, ATP4A +44 more	Copy number loss	not provided	GPathogenic
Select item 625760	GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992)	ALKBH6, APLP1 +79 more	Copy number loss	Generalized epilepsy with febrile seizures plus, type 1	GPathogenic
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 442794	GRCh37/hg19 19q13.12(chr19:36147111-37249653)x1	ALKBH6, APLP1 +39 more	Copy number loss	See cases	GUncertain significance
Select item 221541	GRCh37/hg19 19q13.12(chr19:36227660-36250792)x3	HSPB6, IGFLR1 +5 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221399	GRCh37/hg19 19q13.12(chr19:36227660-36268769)x3	ARHGAP33, HSPB6 +6 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 46