ClinVar for Gene (Select 6651) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377312	NM_138927.4(SON):c.4165del (p.Val1388_Val1389insTer)	SON	Deletion (nonsense +2 more)	ZTTK syndrome	GPathogenic
Select item 3377306	NM_138927.4(SON):c.3931A>C (p.Thr1311Pro)	SON (T1311P)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome	GUncertain significance
Select item 3375965	NM_138927.4(SON):c.3518C>T (p.Pro1173Leu)	SON (P1173L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3375716	NM_138927.4(SON):c.6200C>T (p.Ala2067Val)	SON (A2067V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3375585	NM_138927.4(SON):c.3529C>T (p.Pro1177Ser)	SON (P1177S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3375099	NM_138927.4(SON):c.4438T>G (p.Ser1480Ala)	SON (S1480A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3375020	NM_138927.4(SON):c.5675A>G (p.Lys1892Arg)	SON (K1892R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3372585	NM_138927.4(SON):c.820T>A (p.Ser274Thr)	SON (S274T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3372433	NM_138927.4(SON):c.2636G>A (p.Gly879Asp)	SON (G879D)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3372238	NM_138927.4(SON):c.4312G>T (p.Val1438Phe)	SON (V1438F)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3371534	NM_138927.4(SON):c.2005G>T (p.Val669Leu)	SON (V669L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3368292	NM_138927.4(SON):c.5590C>G (p.Arg1864Gly)	SON (R1864G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3367290	NM_138927.4(SON):c.2312T>G (p.Met771Arg)	SON (M771R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3367037	NM_138927.4(SON):c.2461A>G (p.Met821Val)	SON (M821V)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome	GUncertain significance
Select item 3366661	NM_138927.4(SON):c.1677G>C (p.Glu559Asp)	SON (E559D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3365796	NM_138927.4(SON):c.3100A>G (p.Met1034Val)	SON (M1034V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3365602	NM_138927.4(SON):c.3800C>T (p.Ala1267Val)	SON (A1267V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3364865	NM_138927.4(SON):c.7256del (p.Cys2419fs)	SON (C2419fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3364725	NM_138927.4(SON):c.5977C>G (p.Arg1993Gly)	SON (R1993G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3364644	NM_138927.4(SON):c.6962_6964del (p.Gly2321del)	SON (G2321del +1 more)	Deletion (non-coding transcript variant)	not provided	GUncertain significance
Select item 3363677	NM_138927.4(SON):c.5995AGA[1] (p.Arg2000del)	SON (R2000del)	Microsatellite (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3363303	NM_138927.4(SON):c.3101T>A (p.Met1034Lys)	SON (M1034K)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3362851	NM_138927.4(SON):c.3788C>T (p.Pro1263Leu)	SON (P1263L)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome	GUncertain significance
Select item 3362077	NM_138927.4(SON):c.3503C>T (p.Thr1168Ile)	SON (T1168I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3361281	NM_138927.4(SON):c.4205A>C (p.Tyr1402Ser)	SON (Y1402S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3360677	NM_138927.4(SON):c.1434G>T (p.Glu478Asp)	SON (E478D)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 3360550	NM_138927.4(SON):c.62A>G (p.Gln21Arg)	SON (Q21R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359572	NM_138927.4(SON):c.185T>C (p.Val62Ala)	SON (V62A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3357185	NM_138927.4(SON):c.5297C>G (p.Ser1766Cys)	SON (S1766C)	Single nucleotide variant (missense variant +2 more)	SON-related disorder	GLikely benign
Select item 3348724	NM_138927.4(SON):c.2132del (p.Pro711fs)	SON (P711fs)	Deletion (frameshift variant +2 more)	SON-related disorder	GLikely pathogenic
Select item 3344698	NM_138927.4(SON):c.4846A>C (p.Thr1616Pro)	SON (T1616P)	Single nucleotide variant (missense variant +2 more)	SON-related disorder	GUncertain significance
Select item 3344422	NM_138927.4(SON):c.653C>T (p.Ser218Phe)	SON (S218F)	Single nucleotide variant (missense variant +2 more)	SON-related disorder	GUncertain significance
Select item 3343719	NM_138927.4(SON):c.2801C>G (p.Pro934Arg)	SON (P934R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3343545	NM_138927.4(SON):c.4640ATA[3] (p.Asn1548_Thr1549insAsn)	SON	Microsatellite (inframe_insertion +2 more)	not provided	GUncertain significance
Select item 3343141	NM_138927.4(SON):c.3152C>T (p.Ser1051Phe)	SON (S1051F)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3343051	NM_138927.4(SON):c.518C>T (p.Ala173Val)	SON (A173V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3342919	NM_138927.4(SON):c.1193C>T (p.Pro398Leu)	SON (P398L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3339892	NM_138927.4(SON):c.2338_2340delinsACT (p.Ser780Thr)	SON (S780T)	Indel (missense variant +2 more)	not specified	GUncertain significance
Select item 3337609	NM_138927.4(SON):c.5963del (p.Pro1988fs)	SON (P1988fs)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 3337608	NM_138927.4(SON):c.5761C>G (p.Arg1921Gly)	SON (R1921G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3321430	NM_138927.4(SON):c.27del (p.Phe9fs)	SON (F9fs)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 3257431	NM_138927.4(SON):c.4083G>A (p.Glu1361=)	SON	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3257002	NM_138927.4(SON):c.589T>G (p.Ser197Ala)	SON (S197A)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 3254950	NM_138927.4(SON):c.4518_4536delinsTGCATGCAGCATT (p.Leu1507_Glu1512delinsAlaCysSerIle)	SON	Indel (inframe_indel +2 more)	not provided +1 more	GUncertain significance
Select item 3254912	NM_138927.4(SON):c.3350_3354del (p.Ser1117fs)	SON (S1117fs)	Deletion (frameshift variant +2 more)	ZTTK syndrome	GPathogenic
Select item 3252532	NM_138927.4(SON):c.6386C>T (p.Ser2129Leu)	SON (S157L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3252505	NM_138927.4(SON):c.2619_2620del (p.Gln874fs)	SON (Q874fs)	Microsatellite (frameshift variant +2 more)	not provided	GPathogenic
Select item 3252493	NM_138927.4(SON):c.5182A>G (p.Ile1728Val)	SON (I1728V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3252201	NM_138927.4(SON):c.5538G>C (p.Arg1846Ser)	SON (R1846S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3251363	NM_138927.4(SON):c.588A>T (p.Val196=)	SON	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3248568	NM_138927.4(SON):c.1520C>G (p.Pro507Arg)	SON (P507R)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome	GUncertain significance
Select item 3242283	GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not provided	GPathogenic
Select item 3242100	NM_138927.4(SON):c.3194C>G (p.Ser1065Cys)	SON (S1065C)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome	GUncertain significance
Select item 3242067	NM_138927.4(SON):c.3676del (p.Val1226fs)	SON (V1226fs)	Deletion (frameshift variant +2 more)	ZTTK syndrome	GLikely pathogenic
Select item 3236606	NM_138927.4(SON):c.3990_3992del (p.Leu1330_Val1331delinsPhe)	SON	Deletion (inframe_indel +2 more)	ZTTK syndrome	GUncertain significance
Select item 3236377	NM_138927.4(SON):c.5057_5058del (p.Lys1686fs)	SON (K1686fs)	Deletion (frameshift variant +2 more)	ZTTK syndrome	GPathogenic
Select item 3066260	NM_138927.4(SON):c.5061_5071del (p.Glu1687fs)	SON (E1687fs)	Deletion (frameshift variant +2 more)	ZTTK syndrome	GPathogenic
Select item 3065707	NM_138927.4(SON):c.2972T>C (p.Leu991Pro)	SON (L991P)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome	GUncertain significance
Select item 3064532	NM_138927.4(SON):c.5608A>G (p.Arg1870Gly)	SON (R1870G)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome	GLikely benign
Select item 3063793	NM_138927.4(SON):c.6493C>T (p.Pro2165Ser)	SON (P193S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063585	NM_138927.4(SON):c.2615A>T (p.Asp872Val)	SON (D872V)	Single nucleotide variant (non-coding transcript variant +2 more)	ZTTK syndrome	GLikely pathogenic
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062429	GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3	CBR1, CBR3 +139 more	Copy number gain	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	ABCG1, ADAMTS1 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062422	GRCh37/hg19 21q22.11(chr21:34809971-34966753)x1	CRYZL1, DNAJC28 +4 more	Copy number loss	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	ABCG1, ADARB1 +186 more	Copy number gain	not specified	GPathogenic
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 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 3054931	NM_138927.4(SON):c.245-7C>T	SON	Single nucleotide variant (intron variant)	SON-related disorder	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 3047075	NM_138927.4(SON):c.6469-3dup	SON	Duplication (intron variant)	SON-related disorder	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 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 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 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 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 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 3032091	NM_138927.4(SON):c.5518_5523del (p.Thr1840_Ser1841del)	SON	Deletion (inframe_indel +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 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 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 3027341	NM_138927.4(SON):c.4445_4446del (p.His1482fs)	SON (H1482fs)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 3026272	NM_138927.4(SON):c.1119G>A (p.Gln373=)	SON	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3024975	NM_138927.4(SON):c.461C>T (p.Ser154Phe)	SON (S154F)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3023461	NM_138927.4(SON):c.4111T>A (p.Ser1371Thr)	SON (S1371T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3023430	NM_138927.4(SON):c.4086T>C (p.Ser1362=)	SON	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3023193	NM_138927.4(SON):c.6525C>T (p.Phe2175=)	SON	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3022831	NM_138927.4(SON):c.3308T>C (p.Met1103Thr)	SON (M1103T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3022573	NM_138927.4(SON):c.3335G>A (p.Arg1112Gln)	SON (R1112Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3022445	NM_138927.4(SON):c.420G>A (p.Thr140=)	SON	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3020807	NM_138927.4(SON):c.5906GCCGCA[1] (p.Ser1971_Arg1972del)	SON	Microsatellite (inframe_indel +3 more)	not provided	GLikely benign
Select item 3020727	NM_138927.4(SON):c.916C>T (p.Leu306Phe)	SON (L306F)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3020724	NM_138927.4(SON):c.3596T>C (p.Val1199Ala)	SON (V1199A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3019631	NM_138927.4(SON):c.708A>G (p.Pro236=)	SON	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3019064	NM_138927.4(SON):c.6402A>G (p.Glu2134=)	SON	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3017898	NM_138927.4(SON):c.1249C>T (p.Pro417Ser)	SON (P417S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3016222	NM_138927.4(SON):c.1797G>A (p.Pro599=)	SON	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3016072	NM_138927.4(SON):c.2159C>A (p.Thr720Asn)	SON (T720N)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 3015689	NM_138927.4(SON):c.5671C>T (p.Arg1891Cys)	SON (R1891C)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3015311	NM_138927.4(SON):c.4903C>A (p.Gln1635Lys)	SON (Q1635K)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance

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