C12orf4[gene] - ClinVar

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

Search results

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146024	GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3	ACRBP, ADIPOR2 +348 more	Copy number gain	See cases	GPathogenic
Select item 931775	NM_020374.4(C12orf4):c.1200_1201insGT (p.Lys401fs)	C12orf4 (K117fs +4 more)	Insertion (frameshift variant +1 more)	Intellectual disability, autosomal recessive 66	GLikely pathogenic
Select item 1708135	NM_020374.4(C12orf4):c.1168_1169delinsC (p.Gly390fs)	C12orf4 (G106fs +4 more)	Indel (frameshift variant +1 more)	Intellectual disability, autosomal recessive 66	GLikely pathogenic
Select item 977085	NM_020374.4(C12orf4):c.1078C>T (p.Arg360Ter)	C12orf4 (R187* +2 more)	Single nucleotide variant (nonsense +2 more)	Intellectual disability, autosomal recessive 66	GLikely pathogenic
Select item 977084	NM_020374.4(C12orf4):c.799_1034-429delinsTTATGA	C12orf4	Indel (splice acceptor variant +2 more)	Intellectual disability, autosomal recessive 66	GLikely pathogenic
Select item 592163	NM_020374.4(C12orf4):c.983T>C (p.Leu328Pro)	C12orf4 (L328P +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 66	GLikely pathogenic
Select item 279717	NM_020374.4(C12orf4):c.639_642dup (p.Ser215fs)	C12orf4 (S42fs +1 more)	Duplication (frameshift variant +2 more)	not provided	GUncertain significance
Select item 1806586	NM_020374.4(C12orf4):c.500_501GA[2] (p.Arg169fs)	C12orf4 (R169fs)	Microsatellite (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 1805729	NM_020374.4(C12orf4):c.187G>T (p.Glu63Ter)	C12orf4 (E63*)	Single nucleotide variant (nonsense +2 more)	Intellectual disability, autosomal recessive 66	GPathogenic
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 1807708	GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 1527678	GRCh37/hg19 12p13.32(chr12:4520736-4727528)	AKAP3, C12orf4 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1527677	GRCh37/hg19 12p13.33-13.32(chr12:2790077-5325700)	AKAP3, C12orf4 +23 more	Copy number loss	not specified	GPathogenic
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
Select item 1180524	GRCh37/hg19 12p13.33-13.31(chr12:189145-7730395)x3	CRACR2A, ERC1 +93 more	Copy number gain	not provided	GPathogenic
Select item 979958	GRCh37/hg19 12p13.33-13.32(chr12:191242-4683495)x1	ADIPOR2, B4GALNT3 +33 more	Copy number loss	not provided	GPathogenic
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 687115	GRCh37/hg19 12p13.33-13.31(chr12:173786-6346092)x1	ADIPOR2, AKAP3 +44 more	Copy number loss	not provided	GPathogenic
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 686115	GRCh37/hg19 12p13.32(chr12:4539982-4599776)x3	C12orf4, FGF6	Copy number gain	not provided	GUncertain significance
Select item 685635	GRCh37/hg19 12p13.33-13.31(chr12:173786-8393815)x3	ACRBP, ACSM4 +107 more	Copy number gain	not provided	GPathogenic
Select item 635771	GRCh37/hg19 12p13.32(chr12:4458971-4614518)x3	C12orf4, FGF23 +2 more	Copy number gain	Delayed speech and language development	GUncertain significance
Select item 625811	GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497)	ACRBP, ACSM4 +102 more	Copy number gain	not provided	GPathogenic
Select item 625810	GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292)	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 625809	GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)	A2M, A2ML1 +193 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563988	GRCh37/hg19 12p13.33-13.31(chr12:191242-8122785)x3	ACRBP, ACSM4 +101 more	Copy number gain	not provided	GPathogenic
Select item 563987	GRCh37/hg19 12p13.33-13.31(chr12:173786-6201932)x1	ADIPOR2, AKAP3 +43 more	Copy number loss	not provided	GPathogenic
Select item 563986	GRCh37/hg19 12p13.33-13.31(chr12:173786-6039841)x1	ADIPOR2, AKAP3 +42 more	Copy number loss	not provided	GPathogenic
Select item 563985	GRCh37/hg19 12p13.33-13.31(chr12:173786-5952112)x1	ADIPOR2, AKAP3 +42 more	Copy number loss	not provided	GPathogenic
Select item 563976	GRCh37/hg19 12p13.32-13.31(chr12:4305058-6066141)x1	GALNT8, NTF3 +14 more	Copy number loss	not provided	GLikely pathogenic
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 36