21080[HGNC] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996786, LOC129996787 +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 148658	GRCh38/hg38 6q22.1-22.32(chr6:117607147-126699980)x3	LOC129997072, LOC129997073 +147 more	Copy number gain	See cases	GPathogenic
Select item 148091	GRCh38/hg38 6q22.31-22.32(chr6:121829616-126154472)x1	CLVS2, FABP7 +75 more	Copy number loss	See cases	GUncertain significance
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 2406238	NM_001031712.3(TRMT11):c.4G>T (p.Ala2Ser)	TRMT11 (A2S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2264372	NM_001031712.3(TRMT11):c.8T>C (p.Leu3Pro)	TRMT11 (L3P)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3183000	NM_001031712.3(TRMT11):c.13T>A (p.Cys5Ser)	TRMT11 (C5S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2262152	NM_001031712.3(TRMT11):c.19C>T (p.Leu7Phe)	TRMT11 (L7F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2325354	NM_001031712.3(TRMT11):c.196C>T (p.Arg66Trp)	TRMT11 (R66W +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2478007	NM_001031712.3(TRMT11):c.221T>C (p.Phe74Ser)	TRMT11 (F74S +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2568623	NM_001031712.3(TRMT11):c.263G>A (p.Ser88Asn)	TRMT11 (S88N +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2264468	NM_001031712.3(TRMT11):c.434C>T (p.Pro145Leu)	TRMT11 (P133L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2346284	NM_001031712.3(TRMT11):c.476C>G (p.Pro159Arg)	TRMT11 (P147R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2279948	NM_001031712.3(TRMT11):c.476C>T (p.Pro159Leu)	TRMT11 (P96L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2266265	NM_001031712.3(TRMT11):c.506T>C (p.Ile169Thr)	TRMT11 (I106T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2321961	NM_001031712.3(TRMT11):c.602C>T (p.Ala201Val)	TRMT11 (A138V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2537404	NM_001031712.3(TRMT11):c.638T>C (p.Val213Ala)	TRMT11 (V201A +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2557896	NM_001031712.3(TRMT11):c.677C>T (p.Thr226Ile)	TRMT11 (T163I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2255514	NM_001031712.3(TRMT11):c.713C>T (p.Ala238Val)	TRMT11 (A226V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3183001	NM_001031712.3(TRMT11):c.718G>A (p.Val240Met)	TRMT11 (V228M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2460656	NM_001031712.3(TRMT11):c.766G>C (p.Ala256Pro)	TRMT11 (A23P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251332	NM_001031712.3(TRMT11):c.782A>G (p.Gln261Arg)	TRMT11 (Q198R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458496	NM_001031712.3(TRMT11):c.818A>G (p.Asn273Ser)	TRMT11 (N40S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214598	NM_001031712.3(TRMT11):c.824G>A (p.Arg275His)	TRMT11 (R263H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290604	NM_001031712.3(TRMT11):c.854A>G (p.Asp285Gly)	TRMT11 (D222G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324902	NM_001031712.3(TRMT11):c.857T>C (p.Val286Ala)	TRMT11 (V223A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371868	NM_001031712.3(TRMT11):c.866C>T (p.Ser289Leu)	TRMT11 (S56L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303719	NM_001031712.3(TRMT11):c.895G>A (p.Gly299Ser)	TRMT11 (G66S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323640	NM_001031712.3(TRMT11):c.973G>A (p.Glu325Lys)	TRMT11 (E313K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531556	NM_001031712.3(TRMT11):c.1030T>C (p.Ser344Pro)	TRMT11 (S332P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535505	NM_001031712.3(TRMT11):c.1103G>C (p.Gly368Ala)	TRMT11 (G135A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182998	NM_001031712.3(TRMT11):c.1115A>G (p.Tyr372Cys)	TRMT11 (Y309C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508393	NM_001031712.3(TRMT11):c.1124C>T (p.Pro375Leu)	TRMT11 (P177L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182999	NM_001031712.3(TRMT11):c.1183G>A (p.Val395Ile)	TRMT11 (V162I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2411785	NM_001031712.3(TRMT11):c.1187G>A (p.Ser396Asn)	TRMT11 (S163N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614101	NM_001031712.3(TRMT11):c.1226G>T (p.Arg409Leu)	TRMT11 (R346L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362761	NM_001031712.3(TRMT11):c.1327C>T (p.Arg443Cys)	TRMT11 (R245C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520471	NM_001031712.3(TRMT11):c.1328G>A (p.Arg443His)	TRMT11 (R431H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 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 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 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 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +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

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Items: 54