ClinVar for Gene (Select 9749) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062934	GRCh37/hg19 6q23.2-24.2(chr6:131569837-145572239)x3	ABRACL, ADAT2 +69 more	Copy number gain	not specified	GPathogenic
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 2602235	NM_001100164.2(PHACTR2):c.779C>G (p.Ala260Gly)	PHACTR2 (A116G +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2602234	NM_001100164.2(PHACTR2):c.778G>A (p.Ala260Thr)	PHACTR2 (A260T +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2598243	NM_001100164.2(PHACTR2):c.502C>G (p.Pro168Ala)	PHACTR2 (P157A +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2592743	NM_001100164.2(PHACTR2):c.487G>A (p.Ala163Thr)	PHACTR2 (A163T +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2555616	NM_001100164.2(PHACTR2):c.646C>A (p.Pro216Thr)	PHACTR2 (P216T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2546934	NM_001100164.2(PHACTR2):c.61A>C (p.Lys21Gln)	PHACTR2 (K78Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2540144	NM_001100164.2(PHACTR2):c.1546G>C (p.Glu516Gln)	PHACTR2 (E436Q +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2537331	NM_001100164.2(PHACTR2):c.1094T>G (p.Val365Gly)	PHACTR2 (V354G +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2521926	NM_001100164.2(PHACTR2):c.1456C>T (p.Arg486Trp)	PHACTR2 (R406W +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2510404	NM_001100164.2(PHACTR2):c.1126G>A (p.Val376Ile)	PHACTR2 (V232I +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2470173	NM_001100164.2(PHACTR2):c.1319C>T (p.Ala440Val)	PHACTR2 (A440V +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2454205	NM_001100164.2(PHACTR2):c.1192T>C (p.Ser398Pro)	PHACTR2 (S318P +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2424710	NC_000006.11:g.(?_142623467)_(144508628_?)del	ADAT2, ADGRG6 +11 more	Deletion	not provided	GPathogenic
Select item 2363565	NM_001100164.2(PHACTR2):c.1045C>T (p.Pro349Ser)	PHACTR2 (P269S +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2307177	NM_001100164.2(PHACTR2):c.521C>T (p.Pro174Leu)	PHACTR2 (P163L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2285891	NM_001100164.2(PHACTR2):c.436C>G (p.Gln146Glu)	PHACTR2 (Q135E +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2279564	NM_001100164.2(PHACTR2):c.950A>G (p.Glu317Gly)	PHACTR2 (E226G +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2274356	NM_001100164.2(PHACTR2):c.872C>G (p.Ser291Cys)	PHACTR2 (S211C +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2270403	NM_001100164.2(PHACTR2):c.1297G>A (p.Glu433Lys)	PHACTR2 (E289K +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2243419	NM_001100164.2(PHACTR2):c.107C>G (p.Thr36Arg)	PHACTR2 (T25R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2242162	NM_001100164.2(PHACTR2):c.1262C>T (p.Thr421Ile)	PHACTR2 (T277I +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2216498	NM_001100164.2(PHACTR2):c.1781C>T (p.Thr594Met)	PHACTR2 (T503M +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2214969	NM_001100164.2(PHACTR2):c.659C>T (p.Pro220Leu)	PHACTR2 (P220L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2214093	NM_001100164.2(PHACTR2):c.1883C>T (p.Thr628Ile)	PHACTR2 (T484I +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2213638	NM_001100164.2(PHACTR2):c.770G>A (p.Arg257His)	PHACTR2 (R113H +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1527300	GRCh37/hg19 6q24.2(chr6:143874282-145071930)	HYMAI, LTV1 +6 more	Copy number gain	not specified	GPathogenic
Select item 1527299	GRCh37/hg19 6q24.2-24.3(chr6:143331663-145817051)	ADAT2, AIG1 +10 more	Copy number gain	not specified	GPathogenic
Select item 1071172	NC_000006.11:g.(?_143772160)_(144508648_?)del	PEX3, PHACTR2 +7 more	Deletion	Familial hemophagocytic lymphohistiocytosis 4	GPathogenic
Select item 1056147	NC_000006.11:g.(?_143771700)_(144086935_?)dup	ADAT2, FUCA2 +2 more	Duplication	not provided	GUncertain significance
Select item 980795	GRCh37/hg19 6q24.2(chr6:144043427-144104479)x1	PHACTR2	Copy number loss	not provided	GLikely benign
Select item 625705	GRCh37/hg19 6q23.3-24.3(chr6:135239633-146997510)	ABRACL, ADAT2 +49 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 442470	GRCh37/hg19 6q24.1-25.1(chr6:139513020-150389231)x1	ADAT2, ADGB +42 more	Copy number loss	See cases	GPathogenic
Select item 394905	GRCh37/hg19 6q24.2-25.1(chr6:144075695-152337005)x1	ADGB, AKAP12 +42 more	Copy number loss	See cases	GPathogenic
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997469, LOC129997470 +1002 more	Copy number gain	See cases	GPathogenic
Select item 153365	GRCh38/hg38 6q24.2(chr6:143618974-144413183)x3	HYMAI, LOC113146422 +45 more	Copy number gain	See cases	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC132089359, LOC132089360 +614 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	ACAT2, ADAT2 +865 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 41