20842[HGNC] - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	LOC129996415, LOC129996416 +435 more	Copy number loss	See cases	GPathogenic
Select item 2431103	NM_001012426.2(FOXP4):c.-17+129G>C	FOXP4, FOXP4-AS1 +1 more	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431102	NM_001012426.2(FOXP4):c.-17+229T>C	FOXP4, FOXP4-AS1 +1 more	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431124	NM_001012426.2(FOXP4):c.-16-161C>A	FOXP4	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 1329592	NM_001012426.2(FOXP4):c.10G>T (p.Glu4Ter)	FOXP4 (E4*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2246748	NM_001012426.2(FOXP4):c.47G>A (p.Gly16Asp)	FOXP4 (G16D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515652	NM_001012426.2(FOXP4):c.58G>A (p.Val20Met)	FOXP4 (V20M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1263098	NM_001012426.2(FOXP4):c.75G>A (p.Gly25=)	FOXP4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1224246	NM_001012426.2(FOXP4):c.81C>A (p.Ala27=)	FOXP4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3024777	NM_001012426.2(FOXP4):c.97G>A (p.Gly33Arg)	FOXP4 (G33R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2370908	NM_001012426.2(FOXP4):c.104C>T (p.Thr35Ile)	FOXP4 (T35I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515061	NM_001012426.2(FOXP4):c.125C>T (p.Thr42Met)	FOXP4 (T42M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225659	NM_001012426.2(FOXP4):c.134A>G (p.Glu45Gly)	FOXP4 (E45G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 623656	NM_001012426.2(FOXP4):c.193del (p.Gln65fs)	FOXP4 (Q65fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2632955	NM_001012426.2(FOXP4):c.193C>T (p.Gln65Ter)	FOXP4 (Q65*)	Single nucleotide variant (nonsense)	FOXP4-related disorder	GUncertain significance
Select item 3096576	NM_001012426.2(FOXP4):c.221G>A (p.Arg74Gln)	FOXP4 (R74Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3279667	NM_001012426.2(FOXP4):c.289T>C (p.Ser97Pro)	FOXP4 (S97P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 715573	NM_001012426.2(FOXP4):c.456G>A (p.Gln152=)	FOXP4	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2232234	NM_001012426.2(FOXP4):c.468G>T (p.Gln156His)	FOXP4 (Q154H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2431093	NM_001012426.2(FOXP4):c.511-214T>C	FOXP4	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431132	NM_001012426.2(FOXP4):c.511-141G>T	FOXP4	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 3235853	NM_001012426.2(FOXP4):c.586A>C (p.Asn196His)	FOXP4 (N164H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2306241	NM_001012426.2(FOXP4):c.647C>A (p.Thr216Asn)	FOXP4 (T184N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591392	NM_001012426.2(FOXP4):c.733G>A (p.Val245Ile)	FOXP4 (V245I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551492	NM_001012426.2(FOXP4):c.764C>T (p.Thr255Met)	FOXP4 (T253M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233713	NM_001012426.2(FOXP4):c.764C>A (p.Thr255Lys)	FOXP4 (T255K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096577	NM_001012426.2(FOXP4):c.790G>A (p.Ala264Thr)	FOXP4 (A263T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2167049	NM_001012426.2(FOXP4):c.814C>T (p.Leu272Phe)	FOXP4 (L271F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662359	NM_001012426.2(FOXP4):c.815T>A (p.Leu272His)	FOXP4 (L240H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 242887	NM_001012426.2(FOXP4):c.815del (p.Leu272fs)	FOXP4 (L270fs +2 more)	Deletion (frameshift variant)	Laryngeal hypoplasia +3 more	GLikely pathogenic
Select item 768090	NM_001012426.2(FOXP4):c.834C>T (p.Pro278=)	FOXP4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2256141	NM_001012426.2(FOXP4):c.904C>G (p.Pro302Ala)	FOXP4 (P302A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096578	NM_001012426.2(FOXP4):c.929A>G (p.Lys310Arg)	FOXP4 (K309R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579797	NM_001012426.2(FOXP4):c.1027C>T (p.Arg343Trp)	FOXP4 (R311W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338491	NM_001012426.2(FOXP4):c.1081G>C (p.Glu361Gln)	FOXP4 (E329Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3096567	NM_001012426.2(FOXP4):c.1098G>A (p.Met366Ile)	FOXP4 (M365I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580805	NM_001012426.2(FOXP4):c.1122dup (p.Ser375fs)	FOXP4 (S343fs +3 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2632038	NM_001012426.2(FOXP4):c.1143C>A (p.Ser381Arg)	FOXP4 (S349R +3 more)	Single nucleotide variant (missense variant)	FOXP4-related disorder	GUncertain significance
Select item 787829	NM_001012426.2(FOXP4):c.1157C>T (p.Pro386Leu)	FOXP4 (P386L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3279664	NM_001012426.2(FOXP4):c.1192G>A (p.Val398Ile)	FOXP4 (V366I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289674	NM_001012426.2(FOXP4):c.1216G>A (p.Asp406Asn)	FOXP4 (D394N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399703	NM_001012426.2(FOXP4):c.1225G>A (p.Val409Met)	FOXP4 (V365M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279666	NM_001012426.2(FOXP4):c.1241C>T (p.Ser414Leu)	FOXP4 (S401L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096568	NM_001012426.2(FOXP4):c.1246G>A (p.Ala416Thr)	FOXP4 (A372T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096569	NM_001012426.2(FOXP4):c.1268G>T (p.Arg423Leu)	FOXP4 (R411L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228750	NM_001012426.2(FOXP4):c.1309C>T (p.Pro437Ser)	FOXP4 (P405S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242416	NM_001012426.2(FOXP4):c.1357+2T>G	FOXP4	Single nucleotide variant (splice donor variant)	Developmental Disorder With Language Delay And Congenital Abnormalities	Gnot provided
Select item 2494656	NM_001012426.2(FOXP4):c.1368G>C (p.Gln456His)	FOXP4 (Q444H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096570	NM_001012426.2(FOXP4):c.1429C>T (p.Arg477Cys)	FOXP4 (R445C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096571	NM_001012426.2(FOXP4):c.1450C>G (p.Pro484Ala)	FOXP4 (P484A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1472670	NM_001012426.2(FOXP4):c.1540G>A (p.Ala514Thr)	FOXP4 (A501T +2 more)	Single nucleotide variant (missense variant)	Ventricular septal defect +8 more	GPathogenic/Likely pathogenic
Select item 1723851	NM_001012426.2(FOXP4):c.1729G>T (p.Ala577Ser)	FOXP4 (A533S +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3279668	NM_001012426.2(FOXP4):c.1738G>A (p.Glu580Lys)	FOXP4 (E568K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319726	NM_001012426.2(FOXP4):c.1765C>A (p.Pro589Thr)	FOXP4 (P577T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273925	NM_001012426.2(FOXP4):c.1773G>A (p.Met591Ile)	FOXP4 (M579I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768091	NM_001012426.2(FOXP4):c.1788C>T (p.Ser596=)	FOXP4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 719970	NM_001012426.2(FOXP4):c.1789G>A (p.Ala597Thr)	FOXP4 (A584T +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2462455	NM_001012426.2(FOXP4):c.1799T>C (p.Leu600Pro)	FOXP4 (L568P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325380	NM_001012426.2(FOXP4):c.1812C>G (p.Ser604Arg)	FOXP4 (S560R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096572	NM_001012426.2(FOXP4):c.1834G>A (p.Val612Met)	FOXP4 (V568M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279665	NM_001012426.2(FOXP4):c.1841C>T (p.Pro614Leu)	FOXP4 (P582L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366467	NM_001012426.2(FOXP4):c.1855G>A (p.Gly619Ser)	FOXP4 (G575S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279669	NM_001012426.2(FOXP4):c.1856G>A (p.Gly619Asp)	FOXP4 (G575D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096573	NM_001012426.2(FOXP4):c.1874G>A (p.Arg625His)	FOXP4 (R612H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491675	NM_001012426.2(FOXP4):c.1883C>T (p.Pro628Leu)	FOXP4 (P628L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096574	NM_001012426.2(FOXP4):c.1899C>A (p.His633Gln)	FOXP4 (H589Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2444581	NM_001012426.2(FOXP4):c.1913A>C (p.Lys638Thr)	FOXP4 (K594T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2386969	NM_001012426.2(FOXP4):c.1951G>A (p.Gly651Arg)	FOXP4 (G607R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292439	NM_001012426.2(FOXP4):c.1967C>T (p.Ala656Val)	FOXP4 (A612V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096575	NM_001012426.2(FOXP4):c.2013G>C (p.Glu671Asp)	FOXP4 (E658D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685202	GRCh37/hg19 6p21.31-21.1(chr6:35562152-42003452)x1	BNIP5, APOBEC2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2422887	NC_000006.11:g.(?_41126341)_(43737486_?)dup	ABCC10, BICRAL +57 more	Duplication	PRPH2-related disorder	GUncertain significance
Select item 2422814	NC_000006.11:g.(?_41126341)_(43752536_?)del	ABCC10, BICRAL +58 more	Deletion	Peroxisome biogenesis disorder	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 77