C4310696[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 252926	NM_138927.4(SON):c.286C>T (p.Gln96Ter)	SON (Q96*)	Single nucleotide variant (nonsense +2 more)	ZTTK syndrome +2 more	GPathogenic/Likely pathogenic
Select item 631519	NM_138927.4(SON):c.384del (p.Lys128fs)	SON (K128fs)	Deletion (frameshift variant +2 more)	not provided +2 more	GPathogenic
Select item 1030019	NM_138927.4(SON):c.637G>C (p.Glu213Gln)	SON (E213Q)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome	GUncertain significance
Select item 1028929	NM_138927.4(SON):c.1091T>C (p.Leu364Pro)	SON (L364P)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1028930	NM_138927.4(SON):c.1568A>G (p.Glu523Gly)	SON (E523G)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome	GUncertain significance
Select item 1032269	NM_138927.4(SON):c.2449G>T (p.Ala817Ser)	SON (A817S)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	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 1028931	NM_138927.4(SON):c.2715G>A (p.Met905Ile)	SON (M905I)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome	GUncertain significance
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 252927	NM_138927.4(SON):c.3073dup (p.Met1025fs)	SON (M1025fs)	Duplication (frameshift variant +2 more)	Global developmental delay +1 more	GLikely pathogenic
Select item 1030012	NM_138927.4(SON):c.3136G>A (p.Glu1046Lys)	SON (E1046K)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome	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 1032270	NM_138927.4(SON):c.3530C>T (p.Pro1177Leu)	SON (P1177L)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome	GUncertain significance
Select item 451038	NM_138927.4(SON):c.3587C>T (p.Pro1196Leu)	SON (P1196L)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome +1 more	GUncertain significance
Select item 1032271	NM_138927.4(SON):c.3815A>G (p.Glu1272Gly)	SON (E1272G)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome	GUncertain significance
Select item 252928	NM_138927.4(SON):c.3852_3856del (p.Met1284fs)	SON (M1284fs)	Deletion (frameshift variant +2 more)	not provided +3 more	GPathogenic/Likely pathogenic
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 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 1030013	NM_138927.4(SON):c.4548G>A (p.Glu1516=)	SON	Single nucleotide variant (synonymous variant +2 more)	ZTTK syndrome	GUncertain significance
Select item 737289	NM_138927.4(SON):c.4638A>G (p.Glu1546=)	SON	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1030014	NM_138927.4(SON):c.4901C>T (p.Thr1634Ile)	SON (T1634I)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome	GUncertain significance
Select item 1030015	NM_138927.4(SON):c.4972C>T (p.Pro1658Ser)	SON (P1658S)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome	GUncertain significance
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 252929	NM_138927.4(SON):c.5753_5756del (p.Val1918fs)	SON (V1918fs)	Deletion (frameshift variant +2 more)	See cases +5 more	GPathogenic/Likely pathogenic
Select item 1030016	NM_138927.4(SON):c.5840G>A (p.Arg1947Lys)	SON (R1947K)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome	GUncertain significance
Select item 1030017	NM_138927.4(SON):c.5891_5892delinsTT (p.Ser1964Ile)	SON (S1964I)	Indel (missense variant +2 more)	ZTTK syndrome	GUncertain significance
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 1032272	NM_138927.4(SON):c.5969G>A (p.Arg1990His)	SON (R1990H)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1030018	NM_138927.4(SON):c.5978G>A (p.Arg1993His)	SON (R1993H)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome +1 more	GUncertain significance
Select item 1032943	NM_138927.4(SON):c.6083T>A (p.Phe2028Tyr)	SON (F2028Y)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome	GUncertain significance
Select item 252930	NM_138927.4(SON):c.6233del (p.Pro2078fs)	SON (P106fs +1 more)	Deletion (frameshift variant +1 more)	Global developmental delay +1 more	GLikely pathogenic
Select item 1030020	NM_138927.4(SON):c.6657+316G>A	SON (R2291Q)	Single nucleotide variant (missense variant +1 more)	ZTTK syndrome	GUncertain significance

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Items: 32