"Wendy Chung Laboratory, Columbia University Medical Center"[submitter - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2692417	NM_015030.2(FRYL):c.8852A>G (p.Tyr2951Cys)	FRYL (Y2951C)	Single nucleotide variant (missense variant)	FRYL-related developmental disorder	GUncertain significance
Select item 2692424	NM_015030.2(FRYL):c.8079_8080del (p.Gln2693fs)	FRYL (Q2693fs)	Deletion (frameshift variant)	FRYL-related developmental disorder	GUncertain significance
Select item 2692416	NM_015030.2(FRYL):c.7190G>T (p.Ser2397Ile)	FRYL (S2397I)	Single nucleotide variant (missense variant)	FRYL-related developmental disorder	GUncertain significance
Select item 2692415	NM_015030.2(FRYL):c.6884T>C (p.Phe2295Ser)	FRYL (F2295S)	Single nucleotide variant (missense variant)	FRYL-related developmental disorder	GUncertain significance
Select item 2692423	NM_015030.2(FRYL):c.5474_5475del (p.Tyr1825fs)	FRYL (Y1825fs)	Deletion (frameshift variant)	FRYL-related developmental disorder	GUncertain significance
Select item 2692414	NM_015030.2(FRYL):c.4882T>C (p.Phe1628Leu)	FRYL (F1628L)	Single nucleotide variant (missense variant)	FRYL-related developmental disorder	GUncertain significance
Select item 2692422	NM_015030.2(FRYL):c.4724del (p.Cys1575fs)	FRYL (C1575fs)	Deletion (frameshift variant)	FRYL-related developmental disorder	GUncertain significance
Select item 2692421	NM_015030.2(FRYL):c.4663C>T (p.Arg1555Ter)	FRYL (R1555*)	Single nucleotide variant (nonsense)	FRYL-related developmental disorder	GUncertain significance
Select item 2692420	NM_015030.2(FRYL):c.2210_2211dup (p.Ser738Ter)	FRYL (S738*)	Duplication (nonsense)	FRYL-related developmental disorder	GUncertain significance
Select item 2692419	NM_015030.2(FRYL):c.1987-1G>A	FRYL	Single nucleotide variant (splice acceptor variant)	not specified +1 more	GUncertain significance
Select item 2692418	NM_015030.2(FRYL):c.1855_1858del (p.Val619fs)	FRYL (V619fs)	Deletion (frameshift variant)	FRYL-related developmental disorder	GUncertain significance
Select item 2576593	NM_015030.2(FRYL):c.1224del (p.Lys409fs)	FRYL (K409fs)	Deletion (frameshift variant)	FRYL-associated neurodevelopmental disorder +1 more	GConflicting classifications of pathogenicity
Select item 2692413	NM_015030.2(FRYL):c.1129_1130del (p.Val377fs)	FRYL (V377fs)	Deletion (frameshift variant)	FRYL-related developmental disorder	GUncertain significance
Select item 2289180	NM_015030.2(FRYL):c.328C>T (p.Arg110Cys)	FRYL (R110C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance