21569[HGNC] - ClinVar

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Items: 71

	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 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 151611	GRCh38/hg38 6q22.33(chr6:127633679-127755583)x3	THEMIS	Copy number gain	See cases	GLikely benign
Select item 3177033	NM_001010923.3(THEMIS):c.1892C>A (p.Ala631Glu)	THEMIS (A631E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177032	NM_001010923.3(THEMIS):c.1849G>A (p.Asp617Asn)	THEMIS (D582N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374237	NM_001010923.3(THEMIS):c.1795A>C (p.Asn599His)	THEMIS (N446H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403536	NM_001010923.3(THEMIS):c.1777A>T (p.Thr593Ser)	THEMIS (T496S +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2329928	NM_001010923.3(THEMIS):c.1769T>G (p.Val590Gly)	THEMIS (V555G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177031	NM_001010923.3(THEMIS):c.1768G>A (p.Val590Ile)	THEMIS (V555I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204507	NM_001010923.3(THEMIS):c.1760G>A (p.Arg587His)	THEMIS (R626H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734412	NM_001010923.3(THEMIS):c.1751C>T (p.Ser584Phe)	THEMIS (S549F +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3177030	NM_001010923.3(THEMIS):c.1733C>T (p.Thr578Met)	THEMIS (T481M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589278	NM_001010923.3(THEMIS):c.1673C>T (p.Pro558Leu)	THEMIS (P523L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263212	NM_001010923.3(THEMIS):c.1658C>T (p.Pro553Leu)	THEMIS (P456L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277976	NM_001010923.3(THEMIS):c.1568C>T (p.Ala523Val)	THEMIS (A488V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219775	NM_001010923.3(THEMIS):c.1523G>T (p.Arg508Leu)	THEMIS (R482L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210329	NM_001010923.3(THEMIS):c.1472T>A (p.Leu491His)	THEMIS (L465H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177028	NM_001010923.3(THEMIS):c.1394A>C (p.Asp465Ala)	THEMIS (D368A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177027	NM_001010923.3(THEMIS):c.1375G>A (p.Val459Met)	THEMIS (V306M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177026	NM_001010923.3(THEMIS):c.1373A>G (p.Asn458Ser)	THEMIS (N423S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589108	NM_001010923.3(THEMIS):c.1256A>T (p.Lys419Met)	THEMIS (K322M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233381	NM_001010923.3(THEMIS):c.1252A>G (p.Lys418Glu)	THEMIS (K383E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606315	NM_001010923.3(THEMIS):c.1228G>A (p.Val410Ile)	THEMIS (V257I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491074	NM_001010923.3(THEMIS):c.1135A>G (p.Lys379Glu)	THEMIS (K353E +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2300184	NM_001010923.3(THEMIS):c.1114G>A (p.Ala372Thr)	THEMIS (A275T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525150	NM_001010923.3(THEMIS):c.988A>G (p.Arg330Gly)	THEMIS (R177G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376970	NM_001010923.3(THEMIS):c.773C>T (p.Ser258Phe)	THEMIS (S105F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366440	NM_001010923.3(THEMIS):c.754G>A (p.Val252Ile)	THEMIS (V226I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598982	NM_001010923.3(THEMIS):c.728G>A (p.Arg243His)	THEMIS (R90H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207077	NM_001010923.3(THEMIS):c.727C>T (p.Arg243Cys)	THEMIS (R243C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 743079	NM_001010923.3(THEMIS):c.709+9C>G	THEMIS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3177039	NM_001010923.3(THEMIS):c.622A>G (p.Lys208Glu)	THEMIS (K111E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457797	NM_001010923.3(THEMIS):c.590C>A (p.Thr197Lys)	THEMIS (T100K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177038	NM_001010923.3(THEMIS):c.584A>G (p.Asn195Ser)	THEMIS (N160S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316373	NM_001010923.3(THEMIS):c.535G>A (p.Glu179Lys)	THEMIS (E144K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235423	NM_001010923.3(THEMIS):c.499T>G (p.Leu167Val)	THEMIS (L132V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541986	NM_001010923.3(THEMIS):c.481C>T (p.His161Tyr)	THEMIS (H64Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466922	NM_001010923.3(THEMIS):c.473A>G (p.His158Arg)	THEMIS (H132R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518432	NM_001010923.3(THEMIS):c.446T>C (p.Met149Thr)	THEMIS (M123T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376847	NM_001010923.3(THEMIS):c.431T>C (p.Ile144Thr)	THEMIS (I109T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177035	NM_001010923.3(THEMIS):c.254T>G (p.Leu85Arg)	THEMIS (L50R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2592885	NM_001010923.3(THEMIS):c.236C>T (p.Pro79Leu)	THEMIS (P79L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541066	NM_001010923.3(THEMIS):c.108G>T (p.Met36Ile)	THEMIS (M1I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 774071	NM_001010923.3(THEMIS):c.107T>C (p.Met36Thr)	THEMIS (M36T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2331132	NM_001010923.3(THEMIS):c.95C>T (p.Ser32Phe)	THEMIS (S32F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263624	NM_001010923.3(THEMIS):c.28C>T (p.His10Tyr)	THEMIS (H10Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3177036	NM_001010923.3(THEMIS):c.25G>T (p.Val9Phe)	THEMIS (V9F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2473440	NM_001010923.3(THEMIS):c.24C>A (p.Phe8Leu)	THEMIS (F8L)	Single nucleotide variant (missense variant +2 more)	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 2684454	GRCh37/hg19 6q22.33(chr6:128226775-128818082)x3	PTPRK, THEMIS	Copy number gain	not provided	GUncertain significance
Select item 1809061	GRCh37/hg19 6q22.33(chr6:127853200-128099649)x1	C6orf58, THEMIS	Copy number loss	not provided	GUncertain significance
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 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 443603	GRCh37/hg19 6q22.33(chr6:128184355-128984867)x1	PTPRK, THEMIS	Copy number loss	See cases	GUncertain significance
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
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: 71