ClinVar for Gene (Select 26038) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 363

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3385378	NM_015557.3(CHD5):c.2584G>T (p.Val862Phe)	CHD5 (V862F)	Single nucleotide variant (missense variant)	Parenti-mignot neurodevelopmental syndrome	GUncertain significance
Select item 3384540	NM_015557.3(CHD5):c.2349C>G (p.Asp783Glu)	CHD5 (D783E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3383627	NM_015557.3(CHD5):c.2973G>C (p.Lys991Asn)	CHD5 (K991N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3383429	NM_015557.3(CHD5):c.1161+8_1161+38del	CHD5	Deletion (intron variant)	See cases	GUncertain significance
Select item 3382657	NM_015557.3(CHD5):c.2552G>A (p.Arg851His)	CHD5 (R851H)	Single nucleotide variant (missense variant)	Parenti-mignot neurodevelopmental syndrome	GLikely pathogenic
Select item 3381547	NM_015557.3(CHD5):c.4582G>C (p.Asp1528His)	CHD5 (D1528H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3376984	NM_015557.3(CHD5):c.3305C>A (p.Ala1102Glu)	CHD5 (A1102E)	Single nucleotide variant (missense variant)	Parenti-mignot neurodevelopmental syndrome	GLikely pathogenic
Select item 3376973	NM_015557.3(CHD5):c.1721del (p.Leu574fs)	CHD5 (L574fs)	Deletion (frameshift variant)	Parenti-mignot neurodevelopmental syndrome	GPathogenic
Select item 3376340	NM_015557.3(CHD5):c.4475G>A (p.Arg1492Gln)	CHD5 (R1492Q)	Single nucleotide variant (missense variant)	Parenti-mignot neurodevelopmental syndrome	GUncertain significance
Select item 3375647	NM_015557.3(CHD5):c.145A>G (p.Lys49Glu)	CHD5 (K49E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375462	NM_015557.3(CHD5):c.139C>T (p.Leu47Phe)	CHD5 (L47F)	Single nucleotide variant (missense variant)	Parenti-mignot neurodevelopmental syndrome	GLikely pathogenic
Select item 3373757	NM_015557.3(CHD5):c.3736A>G (p.Asn1246Asp)	CHD5 (N1246D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373624	NM_015557.3(CHD5):c.2671_2676del (p.Asn891_Phe892del)	CHD5	Deletion	not provided	GUncertain significance
Select item 3371979	NM_015557.3(CHD5):c.4433C>A (p.Pro1478Gln)	CHD5 (P1478Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371280	NM_015557.3(CHD5):c.3930G>C (p.Lys1310Asn)	CHD5 (K1310N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371238	NM_015557.3(CHD5):c.3469C>T (p.Arg1157Cys)	CHD5 (R1157C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369796	NM_015557.3(CHD5):c.1820A>T (p.Asp607Val)	CHD5 (D607V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369480	NM_015557.3(CHD5):c.2404A>C (p.Ile802Leu)	CHD5 (I802L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367650	NM_015557.3(CHD5):c.3470G>T (p.Arg1157Leu)	CHD5 (R1157L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364674	NM_015557.3(CHD5):c.5753G>A (p.Gly1918Asp)	CHD5 (G1918D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364563	NM_015557.3(CHD5):c.2289C>G (p.Asn763Lys)	CHD5 (N763K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364517	NM_015557.3(CHD5):c.4324C>G (p.Pro1442Ala)	CHD5 (P1442A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363955	NM_015557.3(CHD5):c.5608G>A (p.Asp1870Asn)	CHD5 (D1870N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363553	NM_015557.3(CHD5):c.1304CCT[2] (p.Ser437del)	CHD5 (S437del)	Microsatellite	not provided	GUncertain significance
Select item 3362738	NM_015557.3(CHD5):c.3644C>T (p.Pro1215Leu)	CHD5 (P1215L)	Single nucleotide variant (missense variant)	Parenti-mignot neurodevelopmental syndrome	GUncertain significance
Select item 3362289	NM_015557.3(CHD5):c.1716C>A (p.Asp572Glu)	CHD5 (D572E)	Single nucleotide variant (missense variant)	Parenti-mignot neurodevelopmental syndrome	GUncertain significance
Select item 3362288	NM_015557.3(CHD5):c.1732A>T (p.Met578Leu)	CHD5 (M578L)	Single nucleotide variant (missense variant)	Parenti-mignot neurodevelopmental syndrome	GLikely pathogenic
Select item 3360047	NM_015557.3(CHD5):c.1717C>T (p.Pro573Ser)	CHD5 (P573S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358690	NM_015557.3(CHD5):c.4724A>G (p.Tyr1575Cys)	CHD5 (Y1575C)	Single nucleotide variant (missense variant)	CHD5-related disorder	GUncertain significance
Select item 3356775	NM_015557.3(CHD5):c.5720_5722dup (p.Ala1907_Gly1908insAla)	CHD5	Duplication (inframe_insertion)	CHD5-related disorder	GUncertain significance
Select item 3355454	NM_015557.3(CHD5):c.4792G>A (p.Ala1598Thr)	CHD5 (A1598T)	Single nucleotide variant (missense variant)	CHD5-related disorder	GLikely benign
Select item 3351468	NM_015557.3(CHD5):c.968G>A (p.Ser323Asn)	CHD5 (S323N)	Single nucleotide variant (missense variant)	CHD5-related disorder	GUncertain significance
Select item 3350887	NM_015557.3(CHD5):c.5565C>T (p.Ala1855=)	CHD5	Single nucleotide variant (synonymous variant)	CHD5-related disorder	GLikely benign
Select item 3350746	NM_015557.3(CHD5):c.4056C>T (p.Asn1352=)	CHD5	Single nucleotide variant (synonymous variant)	CHD5-related disorder	GLikely benign
Select item 3350654	NM_015557.3(CHD5):c.5031C>A (p.Pro1677=)	CHD5	Single nucleotide variant (synonymous variant)	CHD5-related disorder	GLikely benign
Select item 3350609	NM_015557.3(CHD5):c.1653G>A (p.Pro551=)	CHD5	Single nucleotide variant (synonymous variant)	CHD5-related disorder	GLikely benign
Select item 3346583	NM_015557.3(CHD5):c.1780A>T (p.Ile594Phe)	CHD5 (I594F)	Single nucleotide variant (missense variant)	CHD5-related disorder	GUncertain significance
Select item 3346274	NM_015557.3(CHD5):c.2398_2400del (p.Asn800del)	CHD5 (N800del)	Deletion (inframe_deletion)	CHD5-related disorder	GUncertain significance
Select item 3345038	NM_015557.3(CHD5):c.5542G>C (p.Ala1848Pro)	CHD5 (A1848P)	Single nucleotide variant (missense variant)	CHD5-related disorder	GUncertain significance
Select item 3344253	NM_015557.3(CHD5):c.4540-6C>T	CHD5	Single nucleotide variant (intron variant)	CHD5-related disorder	GUncertain significance
Select item 3343263	NM_015557.3(CHD5):c.4444G>T (p.Gly1482Cys)	CHD5 (G1482C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339809	NM_015557.3(CHD5):c.4261-5C>T	CHD5	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3339685	NM_015557.3(CHD5):c.1590+10C>T	CHD5	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3336302	NM_015557.3(CHD5):c.*71G>T	CHD5	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 3336282	NM_015557.3(CHD5):c.3152A>G (p.Lys1051Arg)	CHD5 (K1051R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336217	NM_015557.3(CHD5):c.3395G>A (p.Ser1132Asn)	CHD5 (S1132N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336164	NM_015557.3(CHD5):c.1591-8A>G	CHD5	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3266867	NM_015557.3(CHD5):c.521A>G (p.Lys174Arg)	CHD5 (K174R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3266866	NM_015557.3(CHD5):c.4439C>T (p.Ala1480Val)	CHD5 (A1480V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3266865	NM_015557.3(CHD5):c.5245G>A (p.Val1749Met)	CHD5 (V1749M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3266864	NM_015557.3(CHD5):c.113A>T (p.Asp38Val)	CHD5 (D38V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3266863	NM_015557.3(CHD5):c.2414G>T (p.Gly805Val)	CHD5 (G805V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3266862	NM_015557.3(CHD5):c.1994A>G (p.Lys665Arg)	CHD5 (K665R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3266861	NM_015557.3(CHD5):c.4945G>A (p.Asp1649Asn)	CHD5 (D1649N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3266860	NM_015557.3(CHD5):c.752G>A (p.Gly251Glu)	CHD5 (G251E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3266858	NM_015557.3(CHD5):c.4888C>A (p.Pro1630Thr)	CHD5 (P1630T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3266857	NM_015557.3(CHD5):c.1172G>T (p.Gly391Val)	CHD5 (G391V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3266856	NM_015557.3(CHD5):c.254A>T (p.Lys85Met)	CHD5 (K85M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3266855	NM_015557.3(CHD5):c.3974G>T (p.Arg1325Leu)	CHD5 (R1325L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3266854	NM_015557.3(CHD5):c.3200A>G (p.Tyr1067Cys)	CHD5 (Y1067C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3266853	NM_015557.3(CHD5):c.5008A>G (p.Thr1670Ala)	CHD5 (T1670A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257332	NM_015557.3(CHD5):c.3277C>T (p.Gln1093Ter)	CHD5 (Q1093*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3255099	NM_015557.3(CHD5):c.4189C>T (p.Arg1397Trp)	CHD5 (R1397W)	Single nucleotide variant (missense variant)	Parenti-mignot neurodevelopmental syndrome	GLikely benign
Select item 3253071	NM_015557.3(CHD5):c.5254G>T (p.Gly1752Cys)	CHD5 (G1752C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252332	NM_015557.3(CHD5):c.3302G>A (p.Arg1101Gln)	CHD5 (R1101Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251946	NM_015557.3(CHD5):c.5596_5597delinsTT (p.Glu1866Leu)	CHD5 (E1866L)	Indel (missense variant)	Parenti-mignot neurodevelopmental syndrome	GLikely pathogenic
Select item 3251189	NM_015557.3(CHD5):c.1590+1G>T	CHD5	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3251033	NM_015557.3(CHD5):c.1607C>A (p.Thr536Lys)	CHD5 (T536K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3247965	NC_000001.10:g.(?_5923325)_(12071622_?)del	DNAJC11, DRAXIN +76 more	Deletion	not provided	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3242268	NM_015557.3(CHD5):c.55A>G (p.Met19Val)	CHD5 (M19V)	Single nucleotide variant (missense variant)	Parenti-mignot neurodevelopmental syndrome	GUncertain significance
Select item 3239203	NM_015557.3(CHD5):c.2481G>A (p.Glu827=)	CHD5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3236773	NM_015557.3(CHD5):c.4030C>T (p.Arg1344Cys)	CHD5 (R1344C)	Single nucleotide variant (missense variant)	Parenti-mignot neurodevelopmental syndrome	GUncertain significance
Select item 3236602	NM_015557.3(CHD5):c.79+5G>A	CHD5	Single nucleotide variant (intron variant)	Parenti-mignot neurodevelopmental syndrome	GUncertain significance
Select item 3233793	NM_015557.3(CHD5):c.80-12T>G	CHD5	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3144164	NM_015557.3(CHD5):c.95G>A (p.Gly32Asp)	CHD5 (G32D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144163	NM_015557.3(CHD5):c.674C>T (p.Pro225Leu)	CHD5 (P225L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144162	NM_015557.3(CHD5):c.5752G>C (p.Gly1918Arg)	CHD5 (G1918R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144161	NM_015557.3(CHD5):c.5729C>T (p.Pro1910Leu)	CHD5 (P1910L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3144160	NM_015557.3(CHD5):c.5667C>T (p.Ala1889=)	CHD5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3144159	NM_015557.3(CHD5):c.5213G>A (p.Arg1738Gln)	CHD5 (R1738Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144158	NM_015557.3(CHD5):c.5104A>C (p.Lys1702Gln)	CHD5 (K1702Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144157	NM_015557.3(CHD5):c.4897G>A (p.Glu1633Lys)	CHD5 (E1633K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144156	NM_015557.3(CHD5):c.4885C>T (p.Pro1629Ser)	CHD5 (P1629S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144155	NM_015557.3(CHD5):c.4703A>C (p.Lys1568Thr)	CHD5 (K1568T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144154	NM_015557.3(CHD5):c.4685C>T (p.Pro1562Leu)	CHD5 (P1562L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144153	NM_015557.3(CHD5):c.4309A>T (p.Met1437Leu)	CHD5 (M1437L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144151	NM_015557.3(CHD5):c.331G>A (p.Ala111Thr)	CHD5 (A111T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144149	NM_015557.3(CHD5):c.2329G>A (p.Val777Met)	CHD5 (V777M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144148	NM_015557.3(CHD5):c.1809C>G (p.Asp603Glu)	CHD5 (D603E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144147	NM_015557.3(CHD5):c.1607C>T (p.Thr536Met)	CHD5 (T536M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144146	NM_015557.3(CHD5):c.1547C>T (p.Ala516Val)	CHD5 (A516V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144145	NM_015557.3(CHD5):c.1487G>A (p.Ser496Asn)	CHD5 (S496N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144144	NM_015557.3(CHD5):c.1307C>T (p.Ser436Phe)	CHD5 (S436F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144142	NM_015557.3(CHD5):c.1135G>A (p.Glu379Lys)	CHD5 (E379K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3069106	NM_015557.3(CHD5):c.2169G>C (p.Leu723=)	CHD5	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3067854	NM_015557.3(CHD5):c.5047A>C (p.Asn1683His)	CHD5 (N1683H)	Single nucleotide variant (missense variant)	Parenti-mignot neurodevelopmental syndrome	GUncertain significance
Select item 3065865	NM_015557.3(CHD5):c.2916C>A (p.Asn972Lys)	CHD5 (N972K)	Single nucleotide variant (missense variant)	Parenti-mignot neurodevelopmental syndrome	GUncertain significance
Select item 3065712	NM_015557.3(CHD5):c.2453A>G (p.Lys818Arg)	CHD5 (K818R)	Single nucleotide variant (missense variant)	Parenti-mignot neurodevelopmental syndrome	GUncertain significance
Select item 3063997	NM_015557.3(CHD5):c.3627G>A (p.Met1209Ile)	CHD5 (M1209I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 4