ClinVar for MedGen (Select 1648460) - ClinVar - NCBI

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Items: 11

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24396081.	NM_020374.4(C12orf4):c.766T>C (p.Ser256Pro) GRCh37: Chr12:4628009 GRCh38: Chr12:4518843	C12orf4	S256P, S83P	Intellectual disability, autosomal recessive 66	Uncertain significance (May 17, 2021)	criteria provided, single submitter
Select item 18057292.	NM_020374.4(C12orf4):c.187G>T (p.Glu63Ter) GRCh37: Chr12:4643460 GRCh38: Chr12:4534294	C12orf4	E63*	Intellectual disability, autosomal recessive 66	Pathogenic (Jun 11, 2020)	criteria provided, single submitter
Select item 17081353.	NM_020374.4(C12orf4):c.1168_1169delinsC (p.Gly390fs) GRCh37: Chr12:4614540-4614541 GRCh38: Chr12:4505374-4505375	C12orf4	G106fs, G174fs, G217fs, G347fs, G390fs	Intellectual disability, autosomal recessive 66	Likely pathogenic (Apr 6, 2022)	criteria provided, single submitter
Select item 16798364.	NM_020987.5(ANK3):c.12356T>C (p.Ile4119Thr) GRCh37: Chr10:61824010 GRCh38: Chr10:60064252	ANK3	I1500T, I1506T, I1507T, I4119T, I640T	Intellectual disability, autosomal recessive 66	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 13371175.	NM_020987.5(ANK3):c.3139G>A (p.Val1047Ile) GRCh37: Chr10:61868622 GRCh38: Chr10:60108864	ANK3	V1041I, V1047I, V1048I, V181I	Intellectual disability, autosomal recessive 66, not specified	Uncertain significance (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9770856.	NM_020374.4(C12orf4):c.1078C>T (p.Arg360Ter) GRCh37: Chr12:4626311 GRCh38: Chr12:4517145	C12orf4	R187, R360, R76*	Intellectual disability, autosomal recessive 66	Likely pathogenic (May 28, 2020)	criteria provided, single submitter
Select item 9770847.	NM_020374.4(C12orf4):c.799_1034-429delinsTTATGA GRCh37: Chr12:4626784-4627976 GRCh38: Chr12:4517618-4518810	C12orf4		Intellectual disability, autosomal recessive 66	Likely pathogenic (May 28, 2020)	criteria provided, single submitter
Select item 9317758.	NM_020374.4(C12orf4):c.1200_1201insGT (p.Lys401fs) GRCh37: Chr12:4614508-4614509 GRCh38: Chr12:4505342-4505343	C12orf4	K117fs, K401fs, K185fs, K228fs, K358fs	Intellectual disability, autosomal recessive 66	Likely pathogenic (Oct 22, 2019)	criteria provided, single submitter
Select item 5921649.	NM_020374.4(C12orf4):c.1360C>T (p.Arg454Ter) GRCh37: Chr12:4609384 GRCh38: Chr12:4500218	C12orf4	R454, R170, R238, R281, R411*	Intellectual disability, autosomal recessive 66, not provided	Pathogenic/Likely pathogenic (Dec 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 59216310.	NM_020374.4(C12orf4):c.983T>C (p.Leu328Pro) GRCh37: Chr12:4627274 GRCh38: Chr12:4518108	C12orf4	L328P, L155P, L44P	Intellectual disability, autosomal recessive 66	Likely pathogenic (Feb 14, 2020)	criteria provided, single submitter
Select item 18327611.	NM_020374.4(C12orf4):c.639_640insACAA (p.Gln214fs) GRCh37: Chr12:4634508-4634509 GRCh38: Chr12:4525342-4525343	C12orf4	Q41fs, Q214fs	Intellectual disability, autosomal recessive 66, Hypotonia, Intellectual disability, Attention deficit hyperactivity disorder	Pathogenic/Likely pathogenic (Jan 13, 2015)	no assertion criteria provided