Related gene-specific medical variations for Gene (Select 7750) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2690461	NM_197968.4(ZMYM2):c.3019G>A (p.Glu1007Lys)	ZMYM2 (E1007K +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities	GUncertain significance
Select item 2579151	NM_197968.4(ZMYM2):c.2494-2A>G	ZMYM2	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities	GPathogenic
Select item 2430059	NM_197968.4(ZMYM2):c.1943C>G (p.Ser648Ter)	ZMYM2 (S561* +2 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities	GLikely pathogenic
Select item 1701652	NM_197968.4(ZMYM2):c.2252G>A (p.Ser751Asn)	ZMYM2 (S664N +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities	GUncertain significance
Select item 1700142	NM_197968.4(ZMYM2):c.2331dup (p.Lys778Ter)	ZMYM2 (K691* +2 more)	Duplication (nonsense +1 more)	Neurodevelopmental delay	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
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 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 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 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 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 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 815568	GRCh37/hg19 13q12.11(chr13:20465786-20535206)x1	ZMYM2	Copy number loss	not provided	GUncertain significance
Select item 687307	GRCh37/hg19 13q12.11(chr13:20623587-20674184)x3	ZMYM2	Copy number gain	not provided	GUncertain significance
Select item 157267	CM000675.1:g.20470071_20509959dup	ZMYM2	Duplication	Large for gestational age	Gnot provided