654[HGNC] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 2579832	NM_001659.3(ARF3):c.452G>A (p.Arg151His)	ARF3 (R114H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2609061	NM_001659.3(ARF3):c.406G>A (p.Ala136Thr)	ARF3 (A99T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1697213	NM_001659.3(ARF3):c.379A>G (p.Lys127Glu)	ARF3 (K127E)	Single nucleotide variant (missense variant)	Hypotonia +6 more	GPathogenic
Select item 1697212	NM_001659.3(ARF3):c.277G>A (p.Asp93Asn)	ARF3 (D93N)	Single nucleotide variant (missense variant)	Neurodevelopmental delay +17 more	GPathogenic/Likely pathogenic
Select item 1304691	NM_001659.3(ARF3):c.240C>T (p.His80=)	ARF3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1697211	NM_001659.3(ARF3):c.200A>T (p.Asp67Val)	ARF3 (D67V)	Single nucleotide variant (missense variant)	Microcephaly +4 more	GPathogenic
Select item 1221010	NM_001659.3(ARF3):c.149-14dup	ARF3	Duplication (intron variant)	not provided	GBenign
Select item 1697210	NM_001659.3(ARF3):c.139C>T (p.Pro47Ser)	ARF3 (P47S)	Single nucleotide variant (missense variant)	Seizure +3 more	GConflicting classifications of pathogenicity
Select item 1697209	NM_001659.3(ARF3):c.95C>A (p.Thr32Asn)	ARF3 (T32N)	Single nucleotide variant (missense variant)	Intellectual disability +2 more	GPathogenic
Select item 1878713	NM_001659.3(ARF3):c.56G>A (p.Arg19His)	ARF3 (R19H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1697208	NM_001659.3(ARF3):c.34C>G (p.Leu12Val)	ARF3 (L12V)	Single nucleotide variant (missense variant)	Microcephaly +4 more	GLikely pathogenic
Select item 1527702	GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)	ABCD2, ADAMTS20 +72 more	Copy number gain	not specified	GPathogenic
Select item 1048618	GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3	PPHLN1, PRICKLE1 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 979964	GRCh37/hg19 12q13.11-13.12(chr12:49024019-50299974)x3	ADCY6, ARF3 +32 more	Copy number gain	not provided	GUncertain significance
Select item 633775	GRCh37/hg19 12q13.11-13.12(chr12:49034325-49468966)x1	ADCY6, ARF3 +13 more	Copy number loss	Kabuki syndrome 1	GPathogenic
Select item 563945	GRCh37/hg19 12q13.12(chr12:49191810-49630201)x3	CCDC65, WNT10B +14 more	Copy number gain	not provided	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	AAAS, ABCD2 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 221992	GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3	ABCD2, ADAMTS20 +92 more	Copy number gain	See cases	GPathogenic

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Items: 22