"PreventionGenetics, part of Exact Sciences"[submitter] AND "SON"[gene - ClinVar

Search results

Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1392988	NM_138927.4(SON):c.77+6C>G	SON	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2636632	NM_138927.4(SON):c.134A>C (p.Gln45Pro)	SON (Q45P)	Single nucleotide variant (missense variant +1 more)	SON-related disorder +1 more	GUncertain significance
Select item 2652605	NM_138927.4(SON):c.138G>A (p.Ala46=)	SON	Single nucleotide variant (synonymous variant +1 more)	SON-related disorder +1 more	GLikely benign
Select item 1652426	NM_138927.4(SON):c.179A>C (p.Glu60Ala)	SON (E60A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 3054931	NM_138927.4(SON):c.245-7C>T	SON	Single nucleotide variant (intron variant)	SON-related disorder	GLikely benign
Select item 732185	NM_138927.4(SON):c.497C>T (p.Ala166Val)	SON (A166V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 2074872	NM_138927.4(SON):c.498G>A (p.Ala166=)	SON	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GBenign/Likely benign
Select item 1135689	NM_138927.4(SON):c.634G>T (p.Ala212Ser)	SON (A212S)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely benign
Select item 3033073	NM_138927.4(SON):c.925T>A (p.Ser309Thr)	SON (S309T)	Single nucleotide variant (missense variant +2 more)	SON-related disorder	GUncertain significance
Select item 717413	NM_138927.4(SON):c.955G>C (p.Glu319Gln)	SON (E319Q)	Single nucleotide variant (missense variant +2 more)	SON-related disorder +2 more	GBenign/Likely benign
Select item 713747	NM_138927.4(SON):c.1074G>A (p.Pro358=)	SON	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 3046236	NM_138927.4(SON):c.1101C>A (p.Thr367=)	SON	Single nucleotide variant (synonymous variant +2 more)	SON-related disorder	GLikely benign
Select item 2919798	NM_138927.4(SON):c.1106C>T (p.Ala369Val)	SON (A369V)	Single nucleotide variant (missense variant +2 more)	SON-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1050005	NM_138927.4(SON):c.1267C>T (p.Pro423Ser)	SON (P423S)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely benign
Select item 1348428	NM_138927.4(SON):c.1292C>A (p.Pro431His)	SON (P431H)	Single nucleotide variant (missense variant +2 more)	SON-related disorder +1 more	GUncertain significance
Select item 2635969	NM_138927.4(SON):c.1333C>T (p.Pro445Ser)	SON (P445S)	Single nucleotide variant (missense variant +2 more)	SON-related disorder	GUncertain significance
Select item 2172544	NM_138927.4(SON):c.1361C>G (p.Pro454Arg)	SON (P454R)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2174408	NM_138927.4(SON):c.1465G>T (p.Val489Leu)	MIR6501, SON (V489L)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GLikely benign
Select item 3033155	NM_138927.4(SON):c.1493C>A (p.Thr498Lys)	MIR6501, SON (T498K)	Single nucleotide variant (non-coding transcript variant +2 more)	SON-related disorder	GUncertain significance
Select item 731422	NM_138927.4(SON):c.1578G>T (p.Gly526=)	SON	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 790381	NM_138927.4(SON):c.1664C>T (p.Thr555Met)	SON (T555M)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 724619	NM_138927.4(SON):c.1670C>T (p.Ala557Val)	SON (A557V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign
Select item 3032457	NM_138927.4(SON):c.1691C>G (p.Pro564Arg)	SON (P564R)	Single nucleotide variant (missense variant +2 more)	SON-related disorder	GUncertain significance
Select item 749848	NM_138927.4(SON):c.1705G>T (p.Val569Leu)	SON (V569L)	Single nucleotide variant (missense variant +2 more)	SON-related disorder +1 more	GBenign/Likely benign
Select item 2158071	NM_138927.4(SON):c.1738A>G (p.Arg580Gly)	SON (R580G)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely benign
Select item 3055979	NM_138927.4(SON):c.1752G>A (p.Leu584=)	SON	Single nucleotide variant (synonymous variant +2 more)	SON-related disorder	GLikely benign
Select item 2631634	NM_138927.4(SON):c.1826C>T (p.Ser609Leu)	SON (S609L)	Single nucleotide variant (missense variant +2 more)	SON-related disorder +1 more	GUncertain significance
Select item 1988883	NM_138927.4(SON):c.1950G>A (p.Ala650=)	SON	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 2421204	NM_138927.4(SON):c.2098T>C (p.Ser700Pro)	SON (S700P)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1433269	NM_138927.4(SON):c.2210C>T (p.Ala737Val)	SON (A737V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 724438	NM_138927.4(SON):c.2244C>G (p.Ser748=)	SON	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign
Select item 2631292	NM_138927.4(SON):c.2381del (p.Gln794fs)	SON (Q794fs)	Deletion (frameshift variant +2 more)	SON-related disorder	GPathogenic
Select item 2636365	NM_138927.4(SON):c.2452A>T (p.Thr818Ser)	SON (T818S)	Single nucleotide variant (missense variant +2 more)	SON-related disorder +1 more	GUncertain significance
Select item 2697432	NM_138927.4(SON):c.2526T>C (p.Asp842=)	SON	Single nucleotide variant (synonymous variant +2 more)	SON-related disorder +1 more	GLikely benign
Select item 3051215	NM_138927.4(SON):c.2529T>C (p.Ser843=)	SON	Single nucleotide variant (synonymous variant +2 more)	SON-related disorder	GLikely benign
Select item 788038	NM_138927.4(SON):c.2550C>A (p.Thr850=)	SON	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 741625	NM_138927.4(SON):c.2581A>G (p.Met861Val)	SON (M861V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely benign
Select item 2048573	NM_138927.4(SON):c.2611A>G (p.Met871Val)	SON (M871V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 2635183	NM_138927.4(SON):c.2620C>G (p.Gln874Glu)	SON (Q874E)	Single nucleotide variant (missense variant +2 more)	SON-related disorder	GUncertain significance
Select item 2961889	NM_138927.4(SON):c.2630C>G (p.Ala877Gly)	SON (A877G)	Single nucleotide variant (missense variant +2 more)	SON-related disorder +1 more	GLikely benign
Select item 747785	NM_138927.4(SON):c.2661G>A (p.Ala887=)	SON	Single nucleotide variant (synonymous variant +2 more)	SON-related disorder +1 more	GBenign/Likely benign
Select item 790892	NM_138927.4(SON):c.2691G>A (p.Ala897=)	SON	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign
Select item 1431182	NM_138927.4(SON):c.2713A>G (p.Met905Val)	SON (M905V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 716622	NM_138927.4(SON):c.2814T>G (p.Gly938=)	SON	Single nucleotide variant (synonymous variant +2 more)	SON-related disorder +1 more	GBenign/Likely benign
Select item 2631779	NM_138927.4(SON):c.2847_2848dup (p.Arg950fs)	SON (R950fs)	Microsatellite (frameshift variant +2 more)	SON-related disorder	GLikely pathogenic
Select item 2160699	NM_138927.4(SON):c.2847T>C (p.Tyr949=)	SON	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 2631306	NM_138927.4(SON):c.2893A>T (p.Met965Leu)	SON (M965L)	Single nucleotide variant (missense variant +2 more)	SON-related disorder	GUncertain significance
Select item 3031802	NM_138927.4(SON):c.3014C>T (p.Ala1005Val)	SON (A1005V)	Single nucleotide variant (missense variant +2 more)	SON-related disorder	GUncertain significance
Select item 1359494	NM_138927.4(SON):c.3105AGCCTACGAGCGCTCTATGATGTC[1] (p.1036AYERSMMS[1])	SON	Microsatellite (inframe_deletion +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 730732	NM_138927.4(SON):c.3094T>A (p.Ser1032Thr)	SON (S1032T)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely benign
Select item 718888	NM_138927.4(SON):c.3326C>T (p.Ala1109Val)	SON (A1109V)	Single nucleotide variant (missense variant +2 more)	SON-related disorder +2 more	GBenign/Likely benign
Select item 2807210	NM_138927.4(SON):c.3399C>G (p.Thr1133=)	SON	Single nucleotide variant (synonymous variant +2 more)	SON-related disorder +1 more	GLikely benign
Select item 741642	NM_138927.4(SON):c.3447G>A (p.Leu1149=)	SON	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 735042	NM_138927.4(SON):c.3499A>G (p.Met1167Val)	SON (M1167V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign
Select item 1169799	NM_138927.4(SON):c.3608C>T (p.Pro1203Leu)	SON (P1203L)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign
Select item 2158238	NM_138927.4(SON):c.3662C>T (p.Ser1221Leu)	SON (S1221L)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 771052	NM_138927.4(SON):c.3688_3741dup (p.Tyr1230_Thr1247dup)	SON	Duplication (inframe_insertion +2 more)	not provided +1 more	GLikely benign
Select item 748471	NM_138927.4(SON):c.3780G>A (p.Thr1260=)	SON	Single nucleotide variant (synonymous variant +2 more)	SON-related disorder +1 more	GLikely benign
Select item 1325586	NM_138927.4(SON):c.3785C>T (p.Thr1262Ile)	SON (T1262I)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome +2 more	GConflicting classifications of pathogenicity
Select item 3045691	NM_138927.4(SON):c.4053C>T (p.Ala1351=)	SON	Single nucleotide variant (synonymous variant +2 more)	SON-related disorder	GLikely benign
Select item 2158072	NM_138927.4(SON):c.4119_4142del (p.1370SSTVTVLE[1])	SON	Deletion (inframe_deletion +3 more)	not provided +1 more	GBenign/Likely benign
Select item 2571757	NM_138927.4(SON):c.4145C>G (p.Thr1382Ser)	SON (T1382S)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1597903	NM_138927.4(SON):c.4205A>G (p.Tyr1402Cys)	SON (Y1402C)	Single nucleotide variant (missense variant +2 more)	SON-related disorder +1 more	GLikely benign
Select item 1404019	NM_138927.4(SON):c.4228G>A (p.Val1410Ile)	SON (V1410I)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 747486	NM_138927.4(SON):c.4284A>G (p.Gln1428=)	SON	Single nucleotide variant (synonymous variant +2 more)	SON-related disorder +1 more	GLikely benign
Select item 2163893	NM_138927.4(SON):c.4342T>A (p.Ser1448Thr)	SON (S1448T)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely benign
Select item 3030565	NM_138927.4(SON):c.4350T>C (p.Pro1450=)	SON	Single nucleotide variant (synonymous variant +2 more)	SON-related disorder	GLikely benign
Select item 2629966	NM_138927.4(SON):c.4393G>A (p.Val1465Met)	SON (V1465M)	Single nucleotide variant (missense variant +2 more)	SON-related disorder	GUncertain significance
Select item 717601	NM_138927.4(SON):c.4463A>G (p.Asn1488Ser)	SON (N1488S)	Single nucleotide variant (missense variant +2 more)	SON-related disorder +1 more	GBenign
Select item 2181734	NM_138927.4(SON):c.4472C>T (p.Ser1491Phe)	SON (S1491F)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely benign
Select item 781594	NM_138927.4(SON):c.4583A>G (p.His1528Arg)	SON (H1528R)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GBenign/Likely benign
Select item 1383387	NM_138927.4(SON):c.4593T>A (p.Asn1531Lys)	SON (N1531K)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 3032104	NM_138927.4(SON):c.4630G>A (p.Glu1544Lys)	SON (E1544K)	Single nucleotide variant (missense variant +2 more)	SON-related disorder	GUncertain significance
Select item 3060567	NM_138927.4(SON):c.4832G>T (p.Gly1611Val)	SON (G1611V)	Single nucleotide variant (missense variant +2 more)	SON-related disorder	GLikely benign
Select item 2369835	NM_138927.4(SON):c.4877ATG[1] (p.Asp1627del)	SON (D1627del)	Microsatellite (inframe_deletion +3 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 2442222	NM_138927.4(SON):c.4996C>G (p.Leu1666Val)	SON (L1666V)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome +1 more	GUncertain significance
Select item 1298881	NM_138927.4(SON):c.5170A>G (p.Asn1724Asp)	SON (N1724D)	Single nucleotide variant (missense variant +2 more)	SON-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 712279	NM_138927.4(SON):c.5211A>G (p.Leu1737=)	SON	Single nucleotide variant (synonymous variant +2 more)	SON-related disorder +1 more	GBenign
Select item 724439	NM_138927.4(SON):c.5280T>C (p.Asp1760=)	SON	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 3032091	NM_138927.4(SON):c.5518_5523del (p.Thr1840_Ser1841del)	SON	Deletion (inframe deletion +3 more)	SON-related disorder	GUncertain significance
Select item 2957498	NM_138927.4(SON):c.5530C>T (p.Arg1844Cys)	SON (R1844C)	Single nucleotide variant (missense variant +2 more)	SON-related disorder +1 more	GLikely benign
Select item 2632551	NM_138927.4(SON):c.5567C>T (p.Ser1856Phe)	SON (S1856F)	Single nucleotide variant (missense variant +2 more)	SON-related disorder	GUncertain significance
Select item 2664893	NM_138927.4(SON):c.5572C>T (p.Arg1858Cys)	SON (R1858C)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome +1 more	GUncertain significance
Select item 2629769	NM_138927.4(SON):c.5648G>A (p.Arg1883Lys)	SON (R1883K)	Single nucleotide variant (missense variant +2 more)	SON-related disorder	GUncertain significance
Select item 2635588	NM_138927.4(SON):c.5729G>T (p.Ser1910Ile)	SON (S1910I)	Single nucleotide variant (missense variant +2 more)	SON-related disorder	GUncertain significance
Select item 782792	NM_138927.4(SON):c.5754T>C (p.Val1918=)	SON	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 3031690	NM_138927.4(SON):c.5831G>A (p.Gly1944Asp)	SON (G1944D)	Single nucleotide variant (missense variant +2 more)	SON-related disorder	GLikely benign
Select item 1579681	NM_138927.4(SON):c.5868CAGCCGCACCCCCAGCCGCCG[2] (p.1957SRTPSRR[4])	SON	Microsatellite (inframe_deletion +2 more)	not provided +1 more	GLikely benign
Select item 774745	NM_138927.4(SON):c.5868CAGCCGCACCCCCAGCCGCCG[3] (p.1957SRTPSRR[5])	SON	Microsatellite (inframe_deletion +2 more)	ZTTK syndrome +3 more	GBenign/Likely benign
Select item 1165911	NM_138927.4(SON):c.5943_5963dup (p.1957SRTPSRR[7])	SON	Duplication (inframe_insertion +2 more)	SON-related disorder +1 more	GBenign
Select item 712280	NM_138927.4(SON):c.5931C>G (p.Arg1977=)	SON	Single nucleotide variant (synonymous variant +2 more)	SON-related disorder +1 more	GBenign/Likely benign
Select item 2635413	NM_138927.4(SON):c.5956C>T (p.Arg1986Cys)	SON (R1986C)	Single nucleotide variant (missense variant +2 more)	SON-related disorder	GUncertain significance
Select item 737496	NM_138927.4(SON):c.5964T>C (p.Pro1988=)	SON	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 790893	NM_138927.4(SON):c.5970T>C (p.Arg1990=)	SON	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 3047075	NM_138927.4(SON):c.6469-3dup	SON	Duplication (intron variant)	SON-related disorder	GLikely benign
Select item 2629726	NM_138927.4(SON):c.6657+127T>G	SON (V2228G)	Single nucleotide variant (missense variant +1 more)	SON-related disorder	GUncertain significance
Select item 1368558	NM_138927.4(SON):c.6657+147C>T	SON (P2235S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity

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Items: 97