ClinVar for Gene (Select 1107) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236245	NM_001005273.3(CHD3):c.2129del (p.Pro710fs)	CHD3 (P710fs +1 more)	Deletion (frameshift variant)	Snijders Blok-Campeau syndrome	GUncertain significance
Select item 3235799	NM_001005273.3(CHD3):c.3478C>A (p.Pro1160Thr)	CHD3 (P1160T +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome	GLikely pathogenic
Select item 3234570	NM_001005273.3(CHD3):c.3051G>A (p.Ser1017=)	CHD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3233509	NM_001005273.3(CHD3):c.3625G>T (p.Val1209Leu)	CHD3 (V1209L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220892	NM_001005273.3(CHD3):c.2491T>C (p.Phe831Leu)	CHD3 (F890L +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome	GUncertain significance
Select item 3144128	NM_001005273.3(CHD3):c.739G>A (p.Ala247Thr)	CHD3 (A247T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144127	NM_001005271.3(CHD3):c.66A>C (p.Glu22Asp)	CHD3, NAA38 (E22D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3144126	NM_001005273.3(CHD3):c.445C>T (p.His149Tyr)	CHD3 (H149Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144125	NM_001005273.3(CHD3):c.5897C>T (p.Pro1966Leu)	CHD3 (P2025L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3144124	NM_001005273.3(CHD3):c.5861C>G (p.Pro1954Arg)	CHD3 (P2013R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144123	NM_001005273.3(CHD3):c.5822G>A (p.Gly1941Glu)	CHD3 (G1941E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3144122	NM_001005273.3(CHD3):c.5815C>T (p.Pro1939Ser)	CHD3 (P1939S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3144121	NM_001005273.3(CHD3):c.5630C>T (p.Ala1877Val)	CHD3 (A1877V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144120	NM_001005273.3(CHD3):c.5435G>A (p.Arg1812Gln)	CHD3 (R1812Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144118	NM_001005273.3(CHD3):c.5026+1G>A	CHD3	Single nucleotide variant (splice donor variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3144116	NM_001005273.3(CHD3):c.4454G>A (p.Arg1485His)	CHD3 (R1485H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144115	NM_001005273.3(CHD3):c.275G>A (p.Gly92Asp)	CHD3 (G92D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144114	NM_001005273.3(CHD3):c.253C>T (p.Arg85Trp)	CHD3 (R144W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144113	NM_001005273.3(CHD3):c.4067A>C (p.Asp1356Ala)	CHD3 (D1356A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144112	NM_001005273.3(CHD3):c.3736_3738del (p.Lys1246del)	CHD3 (K1305del +1 more)	Deletion (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 3144111	NM_001005273.3(CHD3):c.152A>G (p.Lys51Arg)	CHD3 (K110R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144110	NM_001005273.3(CHD3):c.2597C>T (p.Thr866Ile)	CHD3 (T925I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144109	NM_001005273.3(CHD3):c.2135G>T (p.Ser712Ile)	CHD3 (S771I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144108	NM_001005273.3(CHD3):c.2020G>A (p.Glu674Lys)	CHD3 (E674K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144107	NM_001005271.3(CHD3):c.127G>T (p.Asp43Tyr)	CHD3, NAA38 (D43Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3144106	NM_001005273.3(CHD3):c.1049G>A (p.Gly350Asp)	CHD3, LOC126862484 (G409D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144105	NM_001005271.3(CHD3):c.121G>C (p.Glu41Gln)	CHD3, NAA38 (E41Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3144104	NM_001005273.3(CHD3):c.1028G>A (p.Arg343His)	CHD3, LOC126862484 (R402H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3144103	NM_001005273.3(CHD3):c.1000G>C (p.Ala334Pro)	CHD3, LOC126862484 (A334P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3069189	NM_001005273.3(CHD3):c.3506G>C (p.Arg1169Pro)	CHD3 (R1169P +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome	GLikely pathogenic
Select item 3067967	NM_001005273.3(CHD3):c.5117G>A (p.Arg1706Gln)	CHD3 (R1672Q +2 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome	GUncertain significance
Select item 3067329	NM_001005273.3(CHD3):c.4779G>A (p.Met1593Ile)	CHD3 (M1593I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3067225	NM_001005273.3(CHD3):c.*31C>A	CHD3	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 3066338	NM_001005273.3(CHD3):c.2356G>T (p.Gly786Cys)	CHD3 (G786C +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome	GUncertain significance
Select item 3065988	NM_001005273.3(CHD3):c.1658A>T (p.Lys553Met)	CHD3 (K553M +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome	GUncertain significance
Select item 3063588	NM_001005273.3(CHD3):c.3910C>T (p.Arg1304Ter)	CHD3 (R1304* +1 more)	Single nucleotide variant (nonsense)	Snijders Blok-Campeau syndrome	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3057398	NM_001005273.3(CHD3):c.924+6dup	CHD3, LOC126862484	Duplication (intron variant)	CHD3-related disorder	GLikely benign
Select item 3057310	NM_001005273.3(CHD3):c.5045G>A (p.Arg1682Gln)	CHD3 (R1648Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3056554	NM_001005273.3(CHD3):c.793+10T>A	CHD3	Single nucleotide variant (intron variant)	CHD3-related disorder	GBenign
Select item 3055294	NM_001005273.3(CHD3):c.8C>T (p.Ala3Val)	CHD3 (A3V)	Single nucleotide variant (missense variant +1 more)	CHD3-related disorder	GBenign
Select item 3055117	NM_001005273.3(CHD3):c.1896C>T (p.Thr632=)	CHD3	Single nucleotide variant (synonymous variant)	CHD3-related disorder	GLikely benign
Select item 3054905	NM_001005273.3(CHD3):c.3805G>C (p.Asp1269His)	CHD3 (D1269H +1 more)	Single nucleotide variant (missense variant)	CHD3-related disorder	GUncertain significance
Select item 3053423	NM_001005273.3(CHD3):c.5139T>C (p.Asp1713=)	CHD3	Single nucleotide variant (synonymous variant)	CHD3-related disorder	GBenign
Select item 3052807	NM_001005273.3(CHD3):c.2232G>A (p.Leu744=)	CHD3	Single nucleotide variant (synonymous variant)	CHD3-related disorder	GLikely benign
Select item 3051872	NM_001005273.3(CHD3):c.5755-10T>G	CHD3	Single nucleotide variant (intron variant)	CHD3-related disorder	GLikely benign
Select item 3051581	NM_001005273.3(CHD3):c.1381G>A (p.Val461Ile)	CHD3 (V461I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3051004	NM_001005273.3(CHD3):c.2742A>G (p.Pro914=)	CHD3	Single nucleotide variant (synonymous variant)	CHD3-related disorder	GLikely benign
Select item 3050516	NM_001005273.3(CHD3):c.2148T>C (p.Asn716=)	CHD3	Single nucleotide variant (synonymous variant)	CHD3-related disorder	GLikely benign
Select item 3050085	NM_001005273.3(CHD3):c.67C>T (p.Pro23Ser)	CHD3 (P23S)	Single nucleotide variant (missense variant +1 more)	CHD3-related disorder	GLikely benign
Select item 3049260	NM_001005273.3(CHD3):c.4789-10C>G	CHD3	Single nucleotide variant (intron variant)	CHD3-related disorder	GBenign
Select item 3048894	NM_001005273.3(CHD3):c.5262-9C>T	CHD3	Single nucleotide variant (intron variant)	CHD3-related disorder	GLikely benign
Select item 3047878	NM_001005273.3(CHD3):c.1616C>G (p.Pro539Arg)	CHD3 (P539R +1 more)	Single nucleotide variant (missense variant)	CHD3-related disorder	GLikely benign
Select item 3047835	NM_001005273.3(CHD3):c.4870G>T (p.Val1624Leu)	CHD3 (V1624L +1 more)	Single nucleotide variant (missense variant)	CHD3-related disorder	GLikely benign
Select item 3047603	NM_001005273.3(CHD3):c.4358+7G>A	CHD3	Single nucleotide variant (intron variant)	CHD3-related disorder	GLikely benign
Select item 3044891	NM_001005273.3(CHD3):c.214-9T>G	CHD3	Single nucleotide variant (intron variant)	CHD3-related disorder	GLikely benign
Select item 3042436	NM_001005273.3(CHD3):c.720C>T (p.Pro240=)	CHD3	Single nucleotide variant (synonymous variant)	CHD3-related disorder	GBenign
Select item 3042207	NM_001005273.3(CHD3):c.5136C>T (p.Ala1712=)	CHD3	Single nucleotide variant (synonymous variant)	CHD3-related disorder	GLikely benign
Select item 3042191	NM_001005273.3(CHD3):c.4092G>A (p.Ser1364=)	CHD3	Single nucleotide variant (synonymous variant)	CHD3-related disorder	GBenign
Select item 3041931	NM_001005273.3(CHD3):c.2344-3C>T	CHD3	Single nucleotide variant (intron variant)	CHD3-related disorder	GLikely benign
Select item 3041379	NM_001005273.3(CHD3):c.4641C>G (p.Thr1547=)	CHD3	Single nucleotide variant (synonymous variant)	CHD3-related disorder	GLikely benign
Select item 3038116	NM_001005273.3(CHD3):c.3462T>C (p.Phe1154=)	CHD3	Single nucleotide variant (synonymous variant)	CHD3-related disorder	GBenign
Select item 3037427	NM_001005273.3(CHD3):c.633G>A (p.Ala211=)	CHD3	Single nucleotide variant (synonymous variant)	CHD3-related disorder	GLikely benign
Select item 3037059	NM_001005273.3(CHD3):c.4667-7C>T	CHD3	Single nucleotide variant (intron variant)	CHD3-related disorder	GLikely benign
Select item 3036615	NM_001005273.3(CHD3):c.4925-10C>G	CHD3	Single nucleotide variant (intron variant)	CHD3-related disorder	GLikely benign
Select item 3036533	NM_001005273.3(CHD3):c.5765C>T (p.Pro1922Leu)	CHD3 (P1888L +2 more)	Single nucleotide variant (missense variant)	CHD3-related disorder	GLikely benign
Select item 3035975	NM_001005273.3(CHD3):c.4666+7A>T	CHD3	Single nucleotide variant (intron variant)	CHD3-related disorder	GLikely benign
Select item 3035943	NM_001005273.3(CHD3):c.4735C>G (p.Gln1579Glu)	CHD3 (Q1579E +1 more)	Single nucleotide variant (missense variant)	CHD3-related disorder	GLikely benign
Select item 3035512	NM_001005273.3(CHD3):c.3873C>T (p.Tyr1291=)	CHD3	Single nucleotide variant (synonymous variant)	CHD3-related disorder	GLikely benign
Select item 3035064	NM_001005273.3(CHD3):c.3798G>A (p.Arg1266=)	CHD3	Single nucleotide variant (synonymous variant)	CHD3-related disorder	GLikely benign
Select item 3034503	NM_001005273.3(CHD3):c.5448G>A (p.Leu1816=)	CHD3	Single nucleotide variant (synonymous variant)	CHD3-related disorder	GLikely benign
Select item 3032672	NM_001005273.3(CHD3):c.842G>A (p.Arg281His)	CHD3, LOC126862484 (R281H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3031695	NM_001005273.3(CHD3):c.3028C>T (p.Arg1010Ter)	CHD3 (R1010* +1 more)	Single nucleotide variant (nonsense)	CHD3-related disorder	GLikely pathogenic
Select item 3030750	NM_001005273.3(CHD3):c.3221A>G (p.Glu1074Gly)	CHD3 (E1074G +1 more)	Single nucleotide variant (missense variant)	CHD3-related disorder	GUncertain significance
Select item 3027216	NM_001005273.3(CHD3):c.1256G>A (p.Ser419Asn)	CHD3, LOC126862484 (S419N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026152	NM_001005273.3(CHD3):c.3894+8G>A	CHD3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3026147	NM_001005273.3(CHD3):c.5590+23G>A	CHD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3025990	NM_001005273.3(CHD3):c.5850C>T (p.Tyr1950=)	CHD3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3025545	NM_001005273.3(CHD3):c.1317C>T (p.Tyr439=)	CHD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025453	NM_001005273.3(CHD3):c.924G>A (p.Ser308=)	CHD3, LOC126862484	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025230	NM_001005273.3(CHD3):c.2271C>T (p.Thr757=)	CHD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2763779	NM_001005273.3(CHD3):c.1747C>T (p.Arg583Trp)	CHD3 (R583W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2691015	NM_001005273.3(CHD3):c.5591-6C>A	CHD3	Single nucleotide variant (intron variant)	Snijders Blok-Campeau syndrome	GUncertain significance
Select item 2688772	NM_001005271.3(CHD3):c.250C>A (p.Pro84Thr)	CHD3, NAA38 (P84T)	Single nucleotide variant (missense variant +1 more)	Snijders Blok-Campeau syndrome	GUncertain significance
Select item 2672686	NM_001005273.3(CHD3):c.5079G>A (p.Arg1693=)	CHD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2672140	NM_001005273.3(CHD3):c.3563C>G (p.Ala1188Gly)	CHD3 (A1188G +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome	GUncertain significance
Select item 2671586	Single allele	TMEM88, TRG-GCC2-6 +31 more	Duplication	not provided	GUncertain significance
Select item 2664700	NM_001005273.3(CHD3):c.2912A>C (p.Asp971Ala)	CHD3 (D1030A +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome	GLikely pathogenic
Select item 2664681	NM_001005273.3(CHD3):c.292G>A (p.Gly98Arg)	CHD3 (G157R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2664669	NM_001005273.3(CHD3):c.1618C>T (p.Arg540Cys)	CHD3 (R540C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2664541	NM_001005273.3(CHD3):c.2197G>A (p.Gly733Arg)	CHD3 (G733R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2664531	NM_001005273.3(CHD3):c.1099G>A (p.Gly367Arg)	CHD3, LOC126862484 (G367R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663909	NM_001005273.3(CHD3):c.4243C>T (p.Arg1415Cys)	CHD3, SCARNA21 (R1415C +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome	GLikely pathogenic
Select item 2663685	NM_001005273.3(CHD3):c.5822_5823delinsCA (p.Gly1941Ala)	CHD3 (G1907A +2 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 2663681	NM_001005273.3(CHD3):c.5026+3A>C	CHD3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2662793	NM_001005273.3(CHD3):c.3338C>T (p.Ala1113Val)	CHD3 (A1113V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661914	NM_001005273.3(CHD3):c.2333T>A (p.Leu778His)	CHD3 (L778H +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome	GUncertain significance
Select item 2647441	NM_001005273.3(CHD3):c.5835C>T (p.Ala1945=)	CHD3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2647440	NM_001005273.3(CHD3):c.5796G>A (p.Gly1932=)	CHD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647439	NM_001005273.3(CHD3):c.5701C>T (p.Arg1901Cys)	CHD3 (R1867C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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