ClinVar for MedGen (Select 1794194) - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362310	NM_197968.4(ZMYM2):c.2819A>G (p.Lys940Arg)	ZMYM2 (K853R +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities	GPathogenic
Select item 3341447	NM_197968.4(ZMYM2):c.1892C>T (p.Ala631Val)	ZMYM2 (A544V +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities	GUncertain significance
Select item 3256541	NM_197968.4(ZMYM2):c.3340_3341del (p.Thr1114fs)	ZMYM2 (T1027fs +2 more)	Microsatellite (frameshift variant +1 more)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities	GLikely pathogenic
Select item 3251749	NM_197968.4(ZMYM2):c.3749del (p.Asn1250fs)	ZMYM2 (N1163fs +2 more)	Deletion (frameshift variant +1 more)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities	GPathogenic
Select item 3075724	NM_197968.4(ZMYM2):c.1120_1121del (p.Val374fs)	ZMYM2 (V287fs +2 more)	Microsatellite (frameshift variant +1 more)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities	GPathogenic
Select item 3061907	NM_197968.4(ZMYM2):c.3510_3511dup (p.Phe1171fs)	ZMYM2 (F1084fs +2 more)	Duplication (frameshift variant +1 more)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities	GUncertain significance
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 2626866	NM_197968.4(ZMYM2):c.3538C>T (p.Arg1180Ter)	ZMYM2 (R1093* +2 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities	GLikely pathogenic
Select item 2579152	NM_001287491.2(TET3):c.5051_5054dup (p.His1685fs)	TET3 (H1592fs +1 more)	Duplication (frameshift variant)	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 2506120	NM_197968.4(ZMYM2):c.1039C>T (p.Arg347Ter)	ZMYM2 (R260* +2 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities +1 more	GPathogenic/Likely pathogenic
Select item 2431769	NM_197968.4(ZMYM2):c.2003C>G (p.Ser668Ter)	ZMYM2 (S581* +2 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities	GLikely pathogenic
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 1804077	NM_197968.4(ZMYM2):c.1398C>A (p.Cys466Ter)	ZMYM2 (C379* +2 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities	GLikely pathogenic
Select item 1804076	NM_197968.4(ZMYM2):c.1309G>T (p.Glu437Ter)	ZMYM2 (E350* +2 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities	GLikely pathogenic
Select item 1710427	NM_197968.4(ZMYM2):c.337del (p.Ser112_Val113insTer)	ZMYM2	Deletion (nonsense +1 more)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities	GLikely pathogenic
Select item 1709647	NM_197968.4(ZMYM2):c.275_278dup (p.Gln93fs)	ZMYM2 (Q115fs +1 more)	Duplication (frameshift variant +1 more)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities	GUncertain significance
Select item 1709371	NM_197968.4(ZMYM2):c.2700C>G (p.Tyr900Ter)	ZMYM2 (Y813* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities	GPathogenic
Select item 1708147	NM_197968.4(ZMYM2):c.1856dup (p.Ser620fs)	ZMYM2 (S533fs +2 more)	Duplication (frameshift variant +1 more)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities	GPathogenic
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 1698733	NM_197968.4(ZMYM2):c.2833dup (p.Ala945fs)	ZMYM2 (A858fs +2 more)	Duplication (frameshift variant +1 more)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities	GPathogenic
Select item 1687599	NM_197968.4(ZMYM2):c.3286_3287del (p.Leu1095_Asp1096insTer)	ZMYM2	Deletion (nonsense +1 more)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities	GLikely pathogenic
Select item 1687427	NM_197968.4(ZMYM2):c.1008_1009insG (p.Pro337fs)	ZMYM2 (P250fs +2 more)	Insertion (frameshift variant +1 more)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities	GLikely pathogenic
Select item 1676792	NM_197968.4(ZMYM2):c.3929A>C (p.Tyr1310Ser)	ZMYM2 (Y1223S +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities	GUncertain significance
Select item 1343142	NM_197968.4(ZMYM2):c.2528_2529del (p.Lys843fs)	ZMYM2 (K756fs +2 more)	Deletion (frameshift variant +1 more)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities	GLikely pathogenic
Select item 1334524	NM_197968.4(ZMYM2):c.3532del (p.Ile1178fs)	ZMYM2 (I1091fs +2 more)	Deletion (frameshift variant +1 more)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities	GPathogenic
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 1320249	NM_197968.4(ZMYM2):c.3472C>T (p.Arg1158Ter)	ZMYM2 (R1071* +2 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities +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 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 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 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 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 982430	NM_197968.4(ZMYM2):c.1765C>T (p.Arg589Ter)	ZMYM2 (R502* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 710811	NM_197968.4(ZMYM2):c.454G>C (p.Asp152His)	ZMYM2 (D152H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign

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Links from MedGen

Items: 36