ClinVar for MedGen (Select 934663) - 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 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 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 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 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 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 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 2690056	NM_138927.4(SON):c.6644A>C (p.Asn2215Thr)	SON (N2215T +1 more)	Single nucleotide variant (missense variant +1 more)	ZTTK syndrome	GUncertain significance
Select item 2690055	NM_138927.4(SON):c.1736_1738del (p.Thr579del)	SON (T579del)	Deletion (inframe_deletion +3 more)	ZTTK syndrome	GUncertain significance
Select item 2690054	NM_138927.4(SON):c.1798C>T (p.Leu600Phe)	SON (L600F)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome	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	GUncertain significance
Select item 2663850	NM_138927.4(SON):c.3101_3113del (p.Met1034fs)	SON (M1034fs)	Deletion (frameshift variant +2 more)	ZTTK syndrome	GLikely pathogenic
Select item 2635413	NM_138927.4(SON):c.5956C>T (p.Arg1986Cys)	SON (R1986C)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome +1 more	GUncertain significance
Select item 2585515	NM_138927.4(SON):c.320dup (p.Ser108fs)	SON (S108fs)	Duplication (frameshift variant +2 more)	ZTTK syndrome	GLikely pathogenic
Select item 2585199	NM_138927.4(SON):c.5788C>T (p.Arg1930Trp)	SON (R1930W)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2584671	NM_138927.4(SON):c.1347G>T (p.Leu449Phe)	SON (L449F)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome	GUncertain significance
Select item 2582462	NM_138927.4(SON):c.4349C>T (p.Pro1450Leu)	SON (P1450L)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome	GUncertain significance
Select item 2582298	NM_138927.4(SON):c.2302A>G (p.Thr768Ala)	SON (T768A)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2581065	NM_138927.4(SON):c.3408C>A (p.Tyr1136Ter)	SON (Y1136*)	Single nucleotide variant (nonsense +2 more)	ZTTK syndrome	GLikely pathogenic
Select item 2576569	NM_138927.4(SON):c.1075C>T (p.Gln359Ter)	SON (Q359*)	Single nucleotide variant (nonsense +2 more)	ZTTK syndrome	GLikely pathogenic
Select item 2572502	NM_138927.4(SON):c.1188del (p.Pro398fs)	SON (P398fs)	Deletion (frameshift variant +2 more)	ZTTK syndrome	GLikely pathogenic
Select item 2505239	NM_138927.4(SON):c.6321+1del	SON	Deletion (splice donor variant)	ZTTK syndrome	GPathogenic
Select item 2500889	NM_138927.4(SON):c.232C>T (p.Arg78Ter)	SON (R78*)	Single nucleotide variant (nonsense +1 more)	ZTTK syndrome	GLikely pathogenic
Select item 2498384	NM_138927.4(SON):c.6657+198A>T	SON (K2252*)	Single nucleotide variant (nonsense +1 more)	ZTTK syndrome	GLikely pathogenic
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 2442133	NM_138927.4(SON):c.3145A>G (p.Met1049Val)	SON (M1049V)	Single nucleotide variant (intron variant +2 more)	ZTTK syndrome	GUncertain significance
Select item 2441941	NM_138927.4(SON):c.4424A>C (p.Glu1475Ala)	SON (E1475A)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome	GUncertain significance
Select item 2441842	NM_138927.4(SON):c.2655G>A (p.Met885Ile)	SON (M885I)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2441665	NM_138927.4(SON):c.2905C>T (p.Pro969Ser)	SON (P969S)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome	GUncertain significance
Select item 2436238	NM_138927.4(SON):c.5138A>G (p.Lys1713Arg)	SON (K1713R)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome	GUncertain significance
Select item 2436237	NM_138927.4(SON):c.883C>G (p.Pro295Ala)	SON (P295A)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome	GUncertain significance
Select item 2436236	NM_138927.4(SON):c.937C>T (p.Pro313Ser)	SON (P313S)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome	GUncertain significance
Select item 2436235	NM_138927.4(SON):c.3952T>C (p.Ser1318Pro)	SON (S1318P)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome	GUncertain significance
Select item 2436234	NM_138927.4(SON):c.1653G>T (p.Gln551His)	SON (Q551H)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome	GUncertain significance
Select item 2436233	NM_138927.4(SON):c.4207G>A (p.Val1403Ile)	SON (V1403I)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome	GUncertain significance
Select item 2436232	NM_138927.4(SON):c.3980C>T (p.Thr1327Ile)	SON (T1327I)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome	GUncertain significance
Select item 2436231	NM_138927.4(SON):c.6104G>A (p.Arg2035His)	SON (R2035H)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2436230	NM_138927.4(SON):c.5873G>A (p.Arg1958His)	SON (R1958H)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome	GUncertain significance
Select item 2436229	NM_138927.4(SON):c.2539G>C (p.Ala847Pro)	SON (A847P)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome +1 more	GUncertain significance
Select item 2436228	NM_138927.4(SON):c.3638C>T (p.Pro1213Leu)	SON (P1213L)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome	GUncertain significance
Select item 2436227	NM_138927.4(SON):c.3899C>T (p.Ser1300Leu)	SON (S1300L)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome	GUncertain significance
Select item 2436226	NM_138927.4(SON):c.746C>G (p.Pro249Arg)	SON (P249R)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome	GUncertain significance
Select item 2436225	NM_138927.4(SON):c.2966G>A (p.Arg989Lys)	SON (R989K)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome	GUncertain significance
Select item 2436224	NM_138927.4(SON):c.3255_3281del (p.Met1086_Ser1094del)	SON	Deletion (inframe_deletion +3 more)	ZTTK syndrome	GUncertain significance
Select item 2436223	NM_138927.4(SON):c.1898C>T (p.Pro633Leu)	SON (P633L)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome +1 more	GUncertain significance
Select item 2436222	NM_138927.4(SON):c.196G>A (p.Glu66Lys)	SON (E66K)	Single nucleotide variant (missense variant +1 more)	ZTTK syndrome +1 more	GUncertain significance
Select item 2436221	NM_138927.4(SON):c.3958C>A (p.His1320Asn)	SON (H1320N)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome	GUncertain significance
Select item 2436220	NM_138927.4(SON):c.3469A>G (p.Met1157Val)	SON (M1157V)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome	GUncertain significance
Select item 2433665	NM_138927.4(SON):c.2981del (p.Ala994fs)	SON (A994fs)	Deletion (frameshift variant +2 more)	ZTTK syndrome	GLikely pathogenic
Select item 2431516	NM_138927.4(SON):c.202_203del (p.Val68fs)	SON (V68fs)	Deletion (frameshift variant +1 more)	ZTTK syndrome	GLikely pathogenic
Select item 1992309	NM_138927.4(SON):c.5920C>G (p.Pro1974Ala)	SON (P1974A)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome	GUncertain significance
Select item 1986601	NM_138927.4(SON):c.1043C>T (p.Ser348Leu)	SON (S348L)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome +1 more	GUncertain significance
Select item 1935264	NM_138927.4(SON):c.3541G>A (p.Ala1181Thr)	SON (A1181T)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1806375	NM_138927.4(SON):c.4132_4153del (p.Ser1379fs)	SON (S1379fs)	Deletion (frameshift variant +2 more)	ZTTK syndrome	GLikely benign
Select item 1806327	NM_138927.4(SON):c.1892_1910del (p.Glu631fs)	SON (E631fs)	Deletion (frameshift variant +2 more)	ZTTK syndrome	GPathogenic
Select item 1806029	NM_138927.4(SON):c.5647AGA[1] (p.Arg1884del)	SON (R1884del)	Microsatellite (inframe_deletion +3 more)	ZTTK syndrome	GUncertain significance
Select item 1805375	NM_138927.4(SON):c.2005G>A (p.Val669Met)	SON (V669M)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome +1 more	GUncertain significance
Select item 1803075	NM_138927.4(SON):c.5455_5456dup (p.Asp1819fs)	SON (D1819fs)	Microsatellite (frameshift variant +2 more)	ZTTK syndrome	GLikely pathogenic
Select item 1802578	NM_138927.4(SON):c.2910del (p.Pro969_Tyr970insTer)	SON	Deletion (nonsense +3 more)	ZTTK syndrome	GPathogenic
Select item 1800513	NM_138927.4(SON):c.5301_5316delinsC (p.Ala1768_Val1772del)	SON	Indel (inframe_deletion +3 more)	ZTTK syndrome +1 more	GUncertain significance
Select item 1723129	NM_138927.4(SON):c.117del (p.Ile41fs)	SON (I41fs)	Deletion (frameshift variant +1 more)	ZTTK syndrome	GPathogenic
Select item 1709146	NM_138927.4(SON):c.4480C>T (p.Gln1494Ter)	SON (Q1494*)	Single nucleotide variant (nonsense +2 more)	ZTTK syndrome	GPathogenic
Select item 1708239	NM_138927.4(SON):c.3156del (p.Met1053fs)	SON (M1053fs)	Deletion (frameshift variant +2 more)	ZTTK syndrome	GPathogenic
Select item 1699488	NM_138927.4(SON):c.761C>T (p.Thr254Ile)	SON (T254I)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome	GUncertain significance
Select item 1699464	NM_138927.4(SON):c.2357_2358dup (p.Ala787Ter)	SON (A787*)	Duplication (nonsense +2 more)	ZTTK syndrome	GPathogenic
Select item 1699122	NM_138927.4(SON):c.3968_3975delinsGTTGGT (p.Ser1323fs)	SON (S1323fs)	Indel (frameshift variant +2 more)	ZTTK syndrome	GPathogenic
Select item 1695555	NM_138927.4(SON):c.5719A>C (p.Lys1907Gln)	SON (K1907Q)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome +1 more	GUncertain significance
Select item 1687450	NM_138927.4(SON):c.4012_4013insCAGAA (p.Val1338fs)	SON (V1338fs)	Insertion (frameshift variant +2 more)	ZTTK syndrome	GLikely pathogenic
Select item 1687159	NM_138927.4(SON):c.4378_4381del (p.Val1460fs)	SON (V1460fs)	Deletion (frameshift variant +2 more)	ZTTK syndrome	GLikely pathogenic
Select item 1684637	Single allele	ATP5PO, C21orf62 +107 more	Deletion	ZTTK syndrome	GPathogenic
Select item 1683744	NM_138927.4(SON):c.971C>T (p.Thr324Ile)	SON (T324I)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome	GUncertain significance
Select item 1679597	NM_138927.4(SON):c.961A>C (p.Ser321Arg)	SON (S321R)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome	GUncertain significance
Select item 1571725	NM_138927.4(SON):c.3640C>T (p.Pro1214Ser)	SON (P1214S)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome +1 more	GLikely benign
Select item 1527956	NM_138927.4(SON):c.1416del (p.Pro473fs)	SON (P473fs)	Deletion (frameshift variant +2 more)	ZTTK syndrome	GLikely pathogenic
Select item 1496475	NM_138927.4(SON):c.5894G>A (p.Arg1965His)	SON (R1965H)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1445236	NM_138927.4(SON):c.3818A>G (p.His1273Arg)	SON (H1273R)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome +1 more	GUncertain significance
Select item 1410273	NM_138927.4(SON):c.3375G>A (p.Met1125Ile)	SON (M1125I)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome +1 more	GUncertain significance
Select item 1383387	NM_138927.4(SON):c.4593T>A (p.Asn1531Lys)	SON (N1531K)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome +1 more	GUncertain significance
Select item 1351671	NM_138927.4(SON):c.4783T>C (p.Ser1595Pro)	SON (S1595P)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1343134	NM_138927.4(SON):c.4198_4201del (p.Pro1400fs)	SON (P1400fs)	Deletion (frameshift variant +2 more)	ZTTK syndrome	GPathogenic
Select item 1333147	NM_138927.4(SON):c.7248del (p.Arg2416fs)	SON (R2416fs +1 more)	Deletion (frameshift variant)	ZTTK syndrome	GBenign
Select item 1331047	NM_138927.4(SON):c.4451T>C (p.Met1484Thr)	SON (M1484T)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1325586	NM_138927.4(SON):c.3785C>T (p.Thr1262Ile)	SON (T1262I)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1325545	NM_138927.4(SON):c.1096A>G (p.Lys366Glu)	SON (K366E)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome	GUncertain significance
Select item 1325111	NM_138927.4(SON):c.2977_2980delinsAATTTTATTCA (p.Leu993fs)	SON (L993fs)	Indel (frameshift variant +2 more)	ZTTK syndrome	GLikely pathogenic
Select item 1325110	NM_138927.4(SON):c.944_975delinsGTCTCTG (p.Glu315fs)	SON (E315fs)	Indel (frameshift variant +2 more)	ZTTK syndrome	GLikely pathogenic
Select item 1323633	NM_138927.4(SON):c.78-1G>A	SON	Single nucleotide variant (splice acceptor variant)	ZTTK syndrome	GPathogenic
Select item 1323632	NM_138927.4(SON):c.2965del (p.Arg989fs)	SON (R989fs)	Deletion (frameshift variant +2 more)	ZTTK syndrome	GPathogenic
Select item 1300898	NM_138927.4(SON):c.1359G>T (p.Leu453Phe)	SON (L453F)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1291324	NM_138927.4(SON):c.7236dup (p.Ala2413fs)	SON (A2413fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GBenign
Select item 1285461	NM_138927.4(SON):c.3617_3618del (p.Glu1206fs)	SON (E1206fs)	Microsatellite (frameshift variant +2 more)	ZTTK syndrome	GPathogenic
Select item 1285448	NM_032195.2:c.(?_-55)_1405del	SON	Deletion	ZTTK syndrome	GLikely pathogenic

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