10262[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 1297908	NC_000001.11:g.149923293T>C	SF3B4	Single nucleotide variant	not provided	GBenign
Select item 208827	NM_005850.5(SF3B4):c.1252_1258del (p.Leu418fs)	SF3B4 (L418fs)	Deletion (frameshift variant)	Nager syndrome	GPathogenic
Select item 212156	NM_005850.5(SF3B4):c.1230_1249del (p.Pro411fs)	SF3B4 (P411fs)	Deletion (frameshift variant)	Nager syndrome +4 more	GPathogenic
Select item 3068612	NM_005850.5(SF3B4):c.1235T>C (p.Val412Ala)	SF3B4 (V412A)	Single nucleotide variant (missense variant)	Nager syndrome	GUncertain significance
Select item 208828	NM_005850.5(SF3B4):c.1232del (p.Pro411fs)	SF3B4 (P411fs)	Deletion (frameshift variant)	Nager syndrome	GPathogenic
Select item 3160834	NM_005850.5(SF3B4):c.1216C>T (p.Pro406Ser)	SF3B4 (P406S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3030852	NM_005850.5(SF3B4):c.1203C>G (p.Leu401=)	SF3B4	Single nucleotide variant (synonymous variant)	SF3B4-related disorder	GLikely benign
Select item 208829	NM_005850.5(SF3B4):c.1199del (p.Pro400fs)	SF3B4 (P400fs)	Deletion (frameshift variant)	Nager syndrome	GPathogenic
Select item 1695781	NM_005850.5(SF3B4):c.1168C>T (p.Arg390Ter)	SF3B4 (R390*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 986287	NM_005850.5(SF3B4):c.1163del (p.Pro388fs)	SF3B4 (P388fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 419756	NM_005850.5(SF3B4):c.1153_1159dup (p.Gly387fs)	SF3B4 (G387fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 208830	NM_005850.5(SF3B4):c.1148dup (p.His383fs)	SF3B4 (H383fs)	Duplication (frameshift variant)	Nager syndrome	GPathogenic
Select item 31651	NM_005850.5(SF3B4):c.1147dup (p.His383fs)	SF3B4 (H383fs)	Duplication (frameshift variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 31652	NM_005850.5(SF3B4):c.1147del (p.His383fs)	SF3B4 (H383fs)	Deletion (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 2895785	NM_005850.5(SF3B4):c.1134A>T (p.Pro378=)	SF3B4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 212155	NM_005850.5(SF3B4):c.1088-3C>G	SF3B4	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 208831	NM_005850.5(SF3B4):c.1060dup (p.Arg354fs)	SF3B4 (R354fs)	Duplication (frameshift variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2530379	NM_005850.5(SF3B4):c.1058C>G (p.Pro353Arg)	SF3B4 (P353R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 212154	NM_005850.5(SF3B4):c.1058C>A (p.Pro353His)	SF3B4 (P353H)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2568526	NM_005850.5(SF3B4):c.1054C>T (p.Pro352Ser)	SF3B4 (P352S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 708055	NM_005850.5(SF3B4):c.1040C>T (p.Pro347Leu)	SF3B4 (P347L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3160833	NM_005850.5(SF3B4):c.1006C>G (p.Arg336Gly)	SF3B4 (R336G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 65407	NM_005850.5(SF3B4):c.1006C>T (p.Arg336Ter)	SF3B4 (R336*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2405728	NM_005850.5(SF3B4):c.995A>C (p.Gln332Pro)	SF3B4 (Q332P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 735055	NM_005850.5(SF3B4):c.985T>C (p.Ser329Pro)	SF3B4 (S329P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 3061266	NM_005850.5(SF3B4):c.974_977dup (p.Pro327fs)	SF3B4 (P327fs)	Duplication (frameshift variant)	SF3B4-related disorder	GLikely pathogenic
Select item 292475	NM_005850.5(SF3B4):c.978C>A (p.Pro326=)	SF3B4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3053911	NM_005850.5(SF3B4):c.975A>G (p.Gly325=)	SF3B4	Single nucleotide variant (synonymous variant)	SF3B4-related disorder	GLikely benign
Select item 728216	NM_005850.5(SF3B4):c.969C>T (p.His323=)	SF3B4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1050541	NM_005850.5(SF3B4):c.915G>T (p.Gly305=)	SF3B4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780776	NM_005850.5(SF3B4):c.914-4A>G	SF3B4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274162	NM_005850.5(SF3B4):c.913+200A>T	SF3B4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287020	NM_005850.5(SF3B4):c.913+95_913+100del	SF3B4	Deletion (intron variant)	not provided	GBenign
Select item 31653	NM_005850.5(SF3B4):c.913+1G>A	SF3B4	Single nucleotide variant (splice donor variant)	Nager syndrome	GPathogenic
Select item 1898172	NM_005850.5(SF3B4):c.893C>T (p.Pro298Leu)	SF3B4 (P298L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3253581	NM_005850.5(SF3B4):c.872C>G (p.Ser291Ter)	SF3B4 (S291*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 208833	NM_005850.5(SF3B4):c.864del (p.His288fs)	SF3B4 (H288fs)	Deletion (frameshift variant)	Nager syndrome	GPathogenic
Select item 2435885	NM_005850.5(SF3B4):c.863A>G (p.His288Arg)	SF3B4 (H288R)	Single nucleotide variant (missense variant)	Nager syndrome +1 more	GUncertain significance
Select item 208834	NM_005850.5(SF3B4):c.836_837insGGGTATG (p.Thr280fs)	SF3B4 (T280fs)	Insertion (frameshift variant)	Nager syndrome	GPathogenic
Select item 743311	NM_005850.5(SF3B4):c.828A>C (p.Pro276=)	SF3B4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 208835	NM_005850.5(SF3B4):c.827dup (p.Ser277fs)	SF3B4 (S277fs)	Duplication (frameshift variant)	Nager syndrome	GPathogenic
Select item 446295	NM_005850.5(SF3B4):c.827del (p.Pro276fs)	SF3B4 (P276fs)	Deletion (frameshift variant)	Hereditary hearing loss and deafness +1 more	GPathogenic
Select item 280303	NM_005850.5(SF3B4):c.811del (p.Ala271fs)	SF3B4 (A271fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2983808	NM_005850.5(SF3B4):c.804T>G (p.Pro268=)	SF3B4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 208836	NM_005850.5(SF3B4):c.796dup (p.Met266fs)	SF3B4 (M266fs)	Duplication (frameshift variant)	Nager syndrome	GPathogenic
Select item 451701	NM_005850.5(SF3B4):c.790C>A (p.Pro264Thr)	SF3B4 (P264T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1027377	NM_005850.5(SF3B4):c.763_781del (p.Pro255fs)	SF3B4 (P255fs)	Deletion (frameshift variant)	Nager syndrome	GPathogenic
Select item 208837	NM_005850.5(SF3B4):c.769del (p.Ile257fs)	SF3B4 (I257fs)	Deletion (frameshift variant)	Nager syndrome	GPathogenic
Select item 1013527	NM_005850.5(SF3B4):c.749del (p.Pro250fs)	SF3B4 (P250fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1336049	NM_005850.5(SF3B4):c.744A>C (p.Pro248=)	SF3B4	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 212159	NM_005850.5(SF3B4):c.731_743del (p.Pro244fs)	SF3B4 (P244fs)	Deletion (frameshift variant)	Nager syndrome	GPathogenic
Select item 3340592	NM_005850.5(SF3B4):c.737dup (p.Val247fs)	SF3B4 (V247fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 292476	NM_005850.5(SF3B4):c.735C>T (p.Pro245=)	SF3B4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 212160	NM_005850.5(SF3B4):c.732A>C (p.Pro244=)	SF3B4	Single nucleotide variant (synonymous variant)	not specified +1 more	GUncertain significance
Select item 1696462	NM_005850.5(SF3B4):c.716C>T (p.Pro239Leu)	SF3B4 (P239L)	Single nucleotide variant (missense variant)	Nager syndrome	GUncertain significance
Select item 2338016	NM_005850.5(SF3B4):c.707G>T (p.Gly236Val)	SF3B4 (G236V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3050541	NM_005850.5(SF3B4):c.707-6C>G	SF3B4	Single nucleotide variant (intron variant)	SF3B4-related disorder	GLikely benign
Select item 292477	NM_005850.5(SF3B4):c.707-8C>T	SF3B4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1223891	NM_005850.5(SF3B4):c.707-32A>C	SF3B4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237257	NM_005850.5(SF3B4):c.707-136A>G	SF3B4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2841382	NM_005850.5(SF3B4):c.706+1G>T	SF3B4	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 130291	NM_005850.5(SF3B4):c.682T>C (p.Leu228=)	SF3B4	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 208838	NM_005850.5(SF3B4):c.661_664dup (p.Asn222fs)	SF3B4 (N222fs)	Duplication (frameshift variant)	Nager syndrome	GPathogenic
Select item 208839	NM_005850.5(SF3B4):c.625C>T (p.Gln209Ter)	SF3B4 (Q209*)	Single nucleotide variant (nonsense)	Nager syndrome	GPathogenic
Select item 2444705	NM_005850.5(SF3B4):c.619C>T (p.Pro207Ser)	SF3B4 (P207S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1640304	NM_005850.5(SF3B4):c.603C>G (p.Leu201=)	SF3B4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2265192	NM_005850.5(SF3B4):c.602T>C (p.Leu201Pro)	SF3B4 (L201P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2917578	NM_005850.5(SF3B4):c.601C>T (p.Leu201Phe)	SF3B4 (L201F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3351117	NM_005850.5(SF3B4):c.600G>A (p.Pro200=)	SF3B4	Single nucleotide variant (synonymous variant)	SF3B4-related disorder	GLikely benign
Select item 872439	NM_005850.5(SF3B4):c.577C>T (p.Arg193Ter)	SF3B4 (R193*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3013063	NM_005850.5(SF3B4):c.573C>G (p.Ala191=)	SF3B4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 717807	NM_005850.5(SF3B4):c.561T>C (p.His187=)	SF3B4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 752457	NM_005850.5(SF3B4):c.555G>A (p.Glu185=)	SF3B4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 292480	NM_005850.5(SF3B4):c.543C>T (p.Asp181=)	SF3B4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2716005	NM_005850.5(SF3B4):c.540G>A (p.Lys180=)	SF3B4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 986283	NM_005850.5(SF3B4):c.535A>T (p.Lys179Ter)	SF3B4 (K179*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 1013528	NM_005850.5(SF3B4):c.519C>G (p.Thr173=)	SF3B4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2505865	NM_005850.5(SF3B4):c.514A>G (p.Ile172Val)	SF3B4 (I172V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3053253	NM_005850.5(SF3B4):c.495G>A (p.Gln165=)	SF3B4	Single nucleotide variant (synonymous variant)	SF3B4-related disorder	GLikely benign
Select item 2311345	NM_005850.5(SF3B4):c.475A>G (p.Ile159Val)	SF3B4 (I159V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3317828	NM_005850.5(SF3B4):c.464C>T (p.Ser155Leu)	SF3B4 (S155L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 208840	NM_005850.5(SF3B4):c.452C>A (p.Ser151Ter)	SF3B4 (S151*)	Single nucleotide variant (nonsense)	Nager syndrome	GPathogenic
Select item 2334904	NM_005850.5(SF3B4):c.427G>A (p.Gly143Ser)	SF3B4 (G143S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2430267	NM_005850.5(SF3B4):c.417C>T (p.Gly139=)	SF3B4	Single nucleotide variant (synonymous variant)	Nager syndrome	GPathogenic
Select item 2506323	NM_005850.5(SF3B4):c.400C>T (p.Arg134Trp)	SF3B4 (R134W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 259886	NM_005850.5(SF3B4):c.396T>C (p.Ile132=)	SF3B4	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3047059	NM_005850.5(SF3B4):c.381A>G (p.Leu127=)	SF3B4	Single nucleotide variant (synonymous variant)	SF3B4-related disorder	GLikely benign
Select item 2028374	NM_005850.5(SF3B4):c.365C>T (p.Ala122Val)	SF3B4 (A122V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371613	NM_005850.5(SF3B4):c.361A>T (p.Ser121Cys)	SF3B4 (S121C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 748204	NM_005850.5(SF3B4):c.336T>C (p.Asp112=)	SF3B4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3031898	NM_005850.5(SF3B4):c.327T>G (p.Pro109=)	SF3B4	Single nucleotide variant (synonymous variant)	SF3B4-related disorder	GLikely benign
Select item 1022185	NM_005850.5(SF3B4):c.311T>C (p.Ile104Thr)	SF3B4 (I104T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3052528	NM_005850.5(SF3B4):c.303C>T (p.Asn101=)	SF3B4	Single nucleotide variant (synonymous variant)	SF3B4-related disorder	GLikely benign
Select item 1964235	NM_005850.5(SF3B4):c.250A>G (p.Ile84Val)	SF3B4 (I84V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 212157	NM_005850.5(SF3B4):c.193G>T (p.Glu65Ter)	SF3B4 (E65*)	Single nucleotide variant (nonsense)	Nager syndrome	GPathogenic
Select item 2506819	NM_005850.5(SF3B4):c.175G>C (p.Val59Leu)	SF3B4 (V59L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 208665	NM_005850.5(SF3B4):c.164-1G>A	SF3B4	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 1228612	NM_005850.5(SF3B4):c.163+107C>G	SF3B4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1994811	NM_005850.5(SF3B4):c.160C>T (p.Gln54Ter)	SF3B4 (Q54*)	Single nucleotide variant (nonsense)	not provided	GPathogenic

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