RNF146[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic
Select item 2579265	GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1	ARHGAP18, ASF1A +316 more	Copy number loss	Intellectual disability, autosomal dominant 55, with seizures	GPathogenic
Select item 58442	GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1	LOC129389639, LOC129389640 +254 more	Copy number loss	See cases	GPathogenic
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 148855	GRCh38/hg38 6q22.31-22.33(chr6:125021773-127771834)x1	C6orf58, CENPW +61 more	Copy number loss	See cases	GUncertain significance
Select item 58445	GRCh38/hg38 6q22.32-22.33(chr6:126255554-129431726)x1	C6orf58, CENPW +34 more	Copy number loss	See cases	GPathogenic
Select item 154738	GRCh38/hg38 6q22.32-23.2(chr6:126494533-132497855)x1	AKAP7, ARG1 +127 more	Copy number loss	See cases	GLikely pathogenic
Select item 2306434	NM_001242850.2(RNF146):c.20A>T (p.Glu7Val)	RNF146 (E6V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155075	NM_001242850.2(RNF146):c.62C>T (p.Ala21Val)	RNF146 (A21V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213574	NM_001242850.2(RNF146):c.100G>A (p.Val34Ile)	RNF146 (V34I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522839	NM_001242850.2(RNF146):c.146G>T (p.Ser49Ile)	RNF146 (S48I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155072	NM_001242850.2(RNF146):c.365G>C (p.Ser122Thr)	RNF146 (S121T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314752	NM_001242850.2(RNF146):c.512T>C (p.Ile171Thr)	RNF146 (I170T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312908	NM_001242850.2(RNF146):c.520C>A (p.Pro174Thr)	RNF146 (P174T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656899	NM_001242850.2(RNF146):c.567C>T (p.Thr189=)	RNF146	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3155073	NM_001242850.2(RNF146):c.568G>A (p.Val190Ile)	RNF146 (V189I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155074	NM_001242850.2(RNF146):c.586A>G (p.Ser196Gly)	RNF146 (S195G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317985	NM_001242850.2(RNF146):c.676G>T (p.Asp226Tyr)	RNF146 (D226Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155076	NM_001242850.2(RNF146):c.677A>G (p.Asp226Gly)	RNF146 (D225G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155077	NM_001242850.2(RNF146):c.692G>C (p.Ser231Thr)	RNF146 (S231T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459347	NM_001242850.2(RNF146):c.707C>T (p.Ser236Phe)	RNF146 (S236F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734128	NM_001242850.2(RNF146):c.970G>A (p.Asp324Asn)	RNF146 (D323N +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2339838	NM_001242850.2(RNF146):c.974G>A (p.Arg325Gln)	RNF146 (R325Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281465	NM_001242850.2(RNF146):c.1040C>A (p.Ser347Tyr)	RNF146 (S346Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514389	NM_001242850.2(RNF146):c.1067T>G (p.Val356Gly)	RNF146 (V355G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062929	GRCh37/hg19 6q22.31-22.33(chr6:124515654-130227224)x1	ARHGAP18, C6orf58 +19 more	Copy number loss	not specified	GUncertain significance
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 3062896	GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3	AKAP7, AMD1 +87 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685213	GRCh37/hg19 6q22.31-23.3(chr6:120218852-137160850)x1	AHI1, AKAP7 +69 more	Copy number loss	not provided	GPathogenic
Select item 1808088	GRCh37/hg19 6q22.31-22.33(chr6:120059951-130033233)x1	ARHGAP18, C6orf58 +27 more	Copy number loss	not provided	GUncertain significance
Select item 1527286	GRCh37/hg19 6q22.32-22.33(chr6:126419160-128801386)	C6orf58, CENPW +7 more	Copy number loss	not specified	GUncertain significance
Select item 1527284	GRCh37/hg19 6q22.31-22.33(chr6:122839432-128801386)	C6orf58, CENPW +21 more	Copy number loss	not specified	GPathogenic
Select item 1340790	GRCh37/hg19 6q22.31-22.33(chr6:125037475-129494795)x1	C6orf58, CENPW +17 more	Copy number loss	not provided	GPathogenic
Select item 563234	GRCh37/hg19 6q22.33(chr6:127499597-127593564)x1	RSPO3, RNF146	Copy number loss	not provided	GLikely benign
Select item 563233	GRCh37/hg19 6q22.32-22.33(chr6:126419160-128801386)x1	RSPO3, ECHDC1 +7 more	Copy number loss	not provided	GUncertain significance
Select item 523159	GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1	EPB41L2, FABP7 +73 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 493588	GRCh37/hg19 6q22.33(chr6:127451298-127807918)x1	RNF146, RSPO3 +3 more	Copy number loss	not provided	GUncertain significance
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442817	GRCh37/hg19 6q22.31-23.2(chr6:122612641-131564463)x1	AKAP7, ARHGAP18 +32 more	Copy number loss	See cases	GPathogenic
Select item 442326	GRCh37/hg19 6q22.33(chr6:127303904-128482021)x1	C6orf58, PTPRK +6 more	Copy number loss	See cases	GLikely benign

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Items: 42