"Yale Center for Mendelian Genomics, Yale University"[submitter] AND " - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1344767	NM_197968.4(ZMYM2):c.622C>T (p.Arg208Ter)	ZMYM2 (R208*)	Single nucleotide variant (nonsense +2 more)	Congenital anomaly of kidney and urinary tract	GLikely pathogenic
Select item 1264314	NM_197968.4(ZMYM2):c.766_767dup (p.Val256_Gly257insTer)	ZMYM2	Duplication (frameshift variant +1 more)	Congenital anomaly of kidney and urinary tract +1 more	GPathogenic/Likely pathogenic
Select item 1344768	NM_197968.4(ZMYM2):c.1192C>T (p.Gln398Ter)	ZMYM2 (Q311* +2 more)	Single nucleotide variant (nonsense +1 more)	Congenital anomaly of kidney and urinary tract	GLikely pathogenic
Select item 1344769	NM_197968.4(ZMYM2):c.1367dup (p.Tyr456Ter)	ZMYM2 (Y369* +2 more)	Duplication (nonsense +1 more)	Congenital anomaly of kidney and urinary tract	GLikely pathogenic
Select item 1264313	NM_197968.4(ZMYM2):c.1607del (p.Cys536fs)	ZMYM2 (C449fs +2 more)	Deletion (frameshift variant +1 more)	Congenital anomaly of kidney and urinary tract +1 more	GPathogenic/Likely pathogenic
Select item 1264312	NM_197968.4(ZMYM2):c.1618C>T (p.Arg540Ter)	ZMYM2 (R540* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1344770	NM_197968.4(ZMYM2):c.1623_1627del (p.Cys543fs)	ZMYM2 (C456fs +2 more)	Deletion (frameshift variant +1 more)	Congenital anomaly of kidney and urinary tract	GLikely pathogenic
Select item 1344771	NM_197968.4(ZMYM2):c.2165T>A (p.Leu722Ter)	ZMYM2 (L635* +2 more)	Single nucleotide variant (nonsense +1 more)	Congenital anomaly of kidney and urinary tract	GLikely pathogenic
Select item 1325743	NM_197968.4(ZMYM2):c.2338C>T (p.Arg780Ter)	ZMYM2 (R693* +2 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities +2 more	GPathogenic/Likely pathogenic
Select item 1264315	NM_197968.4(ZMYM2):c.2434_2437del (p.Lys812fs)	ZMYM2 (K725fs +2 more)	Deletion (frameshift variant +1 more)	Congenital anomaly of kidney and urinary tract +1 more	GPathogenic/Likely pathogenic
Select item 1264316	NM_197968.4(ZMYM2):c.2494-1G>A	ZMYM2	Single nucleotide variant (splice acceptor variant)	Congenital anomaly of kidney and urinary tract +1 more	GPathogenic/Likely pathogenic
Select item 1264317	NM_197968.4(ZMYM2):c.3130_3131dup (p.Gly1045fs)	ZMYM2 (G1045fs +2 more)	Duplication (frameshift variant +1 more)	Congenital anomaly of kidney and urinary tract +1 more	GPathogenic/Likely pathogenic
Select item 1344772	NM_197968.4(ZMYM2):c.3176dup (p.Asp1059fs)	ZMYM2 (D1059fs +2 more)	Duplication (frameshift variant +1 more)	Congenital anomaly of kidney and urinary tract	GLikely pathogenic
Select item 1344773	NM_197968.4(ZMYM2):c.3246G>A (p.Trp1082Ter)	ZMYM2 (W1017* +2 more)	Single nucleotide variant (nonsense +1 more)	Congenital anomaly of kidney and urinary tract	GLikely pathogenic