ClinVar for Gene (Select 51561) - ClinVar - NCBI

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

Links from Gene

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244244	NC_000012.11:g.(?_56711393)_(58190366_?)dup	SDR9C7, TSPAN31 +51 more	Duplication	Cataract 15 multiple types +3 more	GUncertain significance
Select item 3109333	NM_016584.3(IL23A):c.472C>T (p.Arg158Cys)	IL23A (R158C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109332	NM_016584.3(IL23A):c.163G>C (p.Asp55His)	IL23A (D55H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591948	NM_016584.3(IL23A):c.317C>T (p.Ser106Leu)	IL23A, LOC132090128 (S106L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356657	NM_016584.3(IL23A):c.473G>A (p.Arg158His)	IL23A (R158H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351071	NM_016584.3(IL23A):c.199G>A (p.Asp67Asn)	IL23A (D67N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221371	NM_016584.3(IL23A):c.337C>G (p.Pro113Ala)	IL23A, LOC132090128 (P113A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213782	NM_016584.3(IL23A):c.529G>A (p.Ala177Thr)	IL23A (A177T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707467	Single allele	ANKRD52, APOF +124 more	Duplication	not specified	GUncertain significance
Select item 1527711	GRCh37/hg19 12q13.2-13.3(chr12:56333262-57010442)	ANKRD52, APOF +30 more	Copy number gain	not specified	GUncertain significance
Select item 815528	GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3	AGAP2, ANKRD52 +105 more	Copy number gain	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 403490	NC_000012.12:g.56339747G>A	LOC132090128, STAT2 +1 more	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic