ClinVar for Gene (Select 23241) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 1000

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3371349	NM_001100913.3(PACS2):c.2039A>G (p.Asp680Gly)	PACS2 (D590G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368647	NM_001100913.3(PACS2):c.661-1G>A	PACS2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3361102	NM_001100913.3(PACS2):c.833A>G (p.His278Arg)	PACS2 (H203R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361018	NM_001100913.3(PACS2):c.1885A>C (p.Ser629Arg)	PACS2 (S550R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359988	NC_000014.9:g.105300526T>C	PACS2 (N35S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359972	NM_001100913.3(PACS2):c.769G>A (p.Ala257Thr)	PACS2 (A182T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359345	NM_001100913.3(PACS2):c.1348C>T (p.Arg450Trp)	PACS2 (R375W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3353323	NM_001100913.3(PACS2):c.749A>T (p.Asn250Ile)	PACS2 (N175I +1 more)	Single nucleotide variant (missense variant)	PACS2-related disorder	GUncertain significance
Select item 3351768	NM_001100913.3(PACS2):c.1273G>A (p.Glu425Lys)	PACS2 (E350K +1 more)	Single nucleotide variant (missense variant)	PACS2-related disorder	GLikely benign
Select item 3345501	NM_001100913.3(PACS2):c.2510A>C (p.Asp837Ala)	PACS2 (D747A +2 more)	Single nucleotide variant (missense variant)	PACS2-related disorder	GUncertain significance
Select item 3343369	NM_001100913.3(PACS2):c.2142dup (p.Ser715fs)	PACS2 (S625fs +2 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3342411	NM_001100913.3(PACS2):c.1906G>T (p.Asp636Tyr)	PACS2 (D557Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337431	NM_001100913.3(PACS2):c.1219C>T (p.Pro407Ser)	PACS2 (P332S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3303890	NM_001100913.3(PACS2):c.1049C>A (p.Pro350Gln)	PACS2 (P350Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3303889	NM_001100913.3(PACS2):c.253A>G (p.Ser85Gly)	PACS2 (S18G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3257382	NM_001100913.3(PACS2):c.1269-3T>C	PACS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3251248	NM_001100913.3(PACS2):c.589A>T (p.Asn197Tyr)	PACS2 (N130Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244069	NC_000014.8:g.(?_105833530)_(105861009_?)dup	PACS2	Duplication	not provided	GUncertain significance
Select item 3244068	NC_000014.8:g.(?_105781256)_(105858123_?)dup	BRF1, PACS2	Duplication	not provided	GUncertain significance
Select item 3244067	NC_000014.8:g.(?_105781256)_(105861009_?)dup	BRF1, PACS2	Duplication	not provided	GUncertain significance
Select item 3244027	NC_000014.8:g.(?_102873655)_(105861009_?)del	ADSS1, AHNAK2 +40 more	Deletion	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 3242321	GRCh37/hg19 14q32.31-32.33(chr14:101522804-107289470)x1	ADSS1, AHNAK2 +70 more	Copy number loss	not provided	GPathogenic
Select item 3241977	NM_001100913.3(PACS2):c.148G>A (p.Val50Met)	PACS2 (V50M)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 66	GUncertain significance
Select item 3234708	NM_001100913.3(PACS2):c.2417G>C (p.Ser806Thr)	PACS2 (S716T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3207900	NM_001100913.3(PACS2):c.2219C>T (p.Ser740Phe)	PACS2 (S740F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3207899	NM_001100913.3(PACS2):c.1139C>G (p.Pro380Arg)	PACS2 (P305R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148870	GRCh37/hg19 14q32.33(chr14:105516659-107284437)x3	BRF1, BTBD6 +22 more	Copy number gain	See cases	GUncertain significance
Select item 3063327	GRCh37/hg19 14q32.31-32.33(chr14:102098959-107285437)x1	CLBA1, COA8 +65 more	Copy number loss	not specified	GPathogenic
Select item 3051368	NM_001100913.3(PACS2):c.*4C>T	PACS2	Single nucleotide variant (3 prime UTR variant)	PACS2-related disorder	GLikely benign
Select item 3026981	NM_001100913.3(PACS2):c.1200G>A (p.Val400=)	PACS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3026881	NM_001100913.3(PACS2):c.1416C>T (p.Ile472=)	PACS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023797	NM_001100913.3(PACS2):c.587-13G>C	PACS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3023211	NM_001100913.3(PACS2):c.951G>A (p.Pro317=)	PACS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019326	NM_001100913.3(PACS2):c.2334C>T (p.Asp778=)	PACS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017316	NM_001100913.3(PACS2):c.898G>A (p.Asp300Asn)	PACS2 (D225N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3016673	NM_001100913.3(PACS2):c.2446T>A (p.Ser816Thr)	PACS2 (S801T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3013905	NM_001100913.3(PACS2):c.2133C>T (p.Asp711=)	PACS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011789	NM_001100913.3(PACS2):c.490G>A (p.Val164Ile)	PACS2 (V164I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011718	NM_001100913.3(PACS2):c.1792G>C (p.Val598Leu)	PACS2 (V594L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011533	NM_001100913.3(PACS2):c.418G>T (p.Ala140Ser)	PACS2 (A140S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011076	NM_001100913.3(PACS2):c.1781-15A>C	PACS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010107	NM_001100913.3(PACS2):c.2255+10C>G	PACS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009185	NM_001100913.3(PACS2):c.1893A>G (p.Val631=)	PACS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008258	NM_001100913.3(PACS2):c.585G>A (p.Thr195=)	PACS2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3008165	NM_001100913.3(PACS2):c.642C>T (p.Asp214=)	PACS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007636	NM_001100913.3(PACS2):c.1806A>G (p.Leu602=)	PACS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007405	NM_001100913.3(PACS2):c.960-17C>G	PACS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3006017	NM_001100913.3(PACS2):c.1143G>A (p.Arg381=)	PACS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005989	NM_001100913.3(PACS2):c.29C>T (p.Pro10Leu)	BRF1, PACS2 (P10L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3005916	NM_001100913.3(PACS2):c.378C>T (p.Ile126=)	PACS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003463	NM_001100913.3(PACS2):c.1115C>T (p.Thr372Met)	PACS2 (T372M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3002736	NM_001100913.3(PACS2):c.1681C>G (p.Gln561Glu)	PACS2 (Q561E +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3002664	NM_001100913.3(PACS2):c.1590G>A (p.Ala530=)	PACS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002443	NM_001100913.3(PACS2):c.2709C>T (p.Thr903=)	PACS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002063	NM_001100913.3(PACS2):c.918G>A (p.Glu306=)	PACS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000805	NM_001100913.3(PACS2):c.1528G>T (p.Asp510Tyr)	PACS2 (D506Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000088	NM_001100913.3(PACS2):c.1926G>A (p.Thr642=)	PACS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999295	NM_001100913.3(PACS2):c.1167C>T (p.Asp389=)	PACS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998063	NM_001100913.3(PACS2):c.1833C>T (p.Asn611=)	PACS2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2996829	NM_001100913.3(PACS2):c.822C>T (p.Asp274=)	PACS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996024	NM_001100913.3(PACS2):c.207+8C>T	PACS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995699	NM_001100913.3(PACS2):c.498G>A (p.Ala166=)	PACS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995634	NM_001100913.3(PACS2):c.292T>C (p.Leu98=)	PACS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994967	NM_001100913.3(PACS2):c.801+8C>T	PACS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994183	NM_001100913.3(PACS2):c.1227G>C (p.Gly409=)	PACS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993972	NM_001100913.3(PACS2):c.2040C>G (p.Asp680Glu)	PACS2 (D680E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992271	NM_001100913.3(PACS2):c.548A>C (p.Asp183Ala)	PACS2 (D116A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990682	NM_001100913.3(PACS2):c.2108C>T (p.Ser703Leu)	PACS2 (S613L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990681	NM_001100913.3(PACS2):c.700A>G (p.Lys234Glu)	PACS2 (K234E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990512	NM_001100913.3(PACS2):c.2119+9G>A	PACS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989989	NM_001100913.3(PACS2):c.1891+10G>A	PACS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987821	NM_001100913.3(PACS2):c.419C>T (p.Ala140Val)	PACS2 (A140V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986061	NM_001100913.3(PACS2):c.1656C>T (p.Pro552=)	PACS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985111	NM_001100913.3(PACS2):c.207+9G>A	PACS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983366	NM_001100913.3(PACS2):c.402G>T (p.Ala134=)	PACS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981984	NM_001100913.3(PACS2):c.2266G>A (p.Gly756Ser)	PACS2 (G756S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2979138	NM_001100913.3(PACS2):c.2255+16G>A	PACS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978897	NM_001100913.3(PACS2):c.586+10G>C	PACS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978595	NM_001100913.3(PACS2):c.1135G>A (p.Gly379Ser)	PACS2 (G304S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2978553	NM_001100913.3(PACS2):c.2213C>T (p.Pro738Leu)	PACS2 (P723L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978256	NM_001100913.3(PACS2):c.1169G>A (p.Ser390Asn)	PACS2 (S390N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974283	NM_001100913.3(PACS2):c.40_48dup (p.Leu16_Asn17insGlyAlaLeu)	BRF1, PACS2	Duplication (intron variant)	not provided	GUncertain significance
Select item 2974228	NM_001100913.3(PACS2):c.208-18G>C	PACS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974051	NM_001100913.3(PACS2):c.882C>T (p.Asp294=)	PACS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974036	NM_001100913.3(PACS2):c.1881C>T (p.Ala627=)	PACS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971402	NM_001100913.3(PACS2):c.725C>T (p.Thr242Met)	PACS2 (T242M)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2971146	NM_001100913.3(PACS2):c.423+14C>T	PACS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967368	NM_001100913.3(PACS2):c.1784C>T (p.Ser595Phe)	PACS2 (S591F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2966814	NM_001100913.3(PACS2):c.1705C>T (p.Arg569Trp)	PACS2 (R490W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965813	NM_001100913.3(PACS2):c.2483T>C (p.Val828Ala)	PACS2 (V738A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965337	NM_001100913.3(PACS2):c.1268+17G>A	PACS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965190	NM_001100913.3(PACS2):c.207+20C>G	PACS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964227	NM_001100913.3(PACS2):c.475A>G (p.Ile159Val)	PACS2 (I159V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2962913	NM_001100913.3(PACS2):c.1050+19del	PACS2	Deletion (intron variant)	not provided	GLikely benign
Select item 2961581	NM_001100913.3(PACS2):c.2001-14G>A	PACS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2961559	NM_001100913.3(PACS2):c.1770C>G (p.Val590=)	PACS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961375	NM_001100913.3(PACS2):c.649G>T (p.Val217Leu)	PACS2 (V217L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960697	NM_001100913.3(PACS2):c.2594G>A (p.Arg865Gln)	PACS2 (R865Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960044	NM_001100913.3(PACS2):c.252_253delinsAG (p.Ser85Gly)	PACS2 (S18G +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 2959242	NM_001100913.3(PACS2):c.1892-7C>T	PACS2	Single nucleotide variant (intron variant)	not provided	GLikely benign

<< First< Prev

Page of 10