ClinVar for Gene (Select 79837) - ClinVar

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Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3306686	NM_024779.5(PIP4K2C):c.451A>G (p.Ile151Val)	PIP4K2C (I133V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3306685	NM_024779.5(PIP4K2C):c.61G>T (p.Gly21Cys)	PIP4K2C (G21C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306684	NM_024779.5(PIP4K2C):c.187A>G (p.Ser63Gly)	PIP4K2C (S63G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3213140	NM_024779.5(PIP4K2C):c.865G>A (p.Asp289Asn)	PIP4K2C (D241N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213138	NM_024779.5(PIP4K2C):c.324C>A (p.Phe108Leu)	PIP4K2C (F108L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213137	NM_024779.5(PIP4K2C):c.1214C>T (p.Pro405Leu)	PIP4K2C (P357L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213136	NM_024779.5(PIP4K2C):c.11C>T (p.Ser4Phe)	PIP4K2C (S4F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498574	GRCh37/hg19 12q13.3-14.1(chr12:57064059-59314016)x1	AGAP2, ARHGAP9 +45 more	Copy number loss	not provided	GLikely pathogenic
Select item 2455467	NM_024779.5(PIP4K2C):c.1061A>C (p.Tyr354Ser)	PIP4K2C (Y354S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425252	NC_000012.11:g.(?_57971476)_(58025915_?)dup	ARHGEF25, B4GALNT1 +3 more	Duplication	Spastic paraplegia	GUncertain significance
Select item 2422308	NC_000012.11:g.(?_57534470)_(58190366_?)dup	AGAP2, ARHGAP9 +27 more	Duplication	Familial melanoma	GUncertain significance
Select item 2404701	NM_024779.5(PIP4K2C):c.113T>A (p.Val38Glu)	PIP4K2C (V38E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363631	NM_024779.5(PIP4K2C):c.628C>T (p.Arg210Cys)	PIP4K2C (R210C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332012	NM_024779.5(PIP4K2C):c.932G>C (p.Gly311Ala)	PIP4K2C (G263A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304760	NM_024779.5(PIP4K2C):c.931G>A (p.Gly311Arg)	PIP4K2C (G293R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298973	NM_024779.5(PIP4K2C):c.850C>A (p.Leu284Met)	PIP4K2C (L236M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234210	NM_024779.5(PIP4K2C):c.224A>G (p.Asp75Gly)	PIP4K2C (D75G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808720	GRCh37/hg19 12q13.3-14.1(chr12:57631073-58236597)x1	AGAP2, ARHGAP9 +27 more	Copy number loss	not provided	GLikely pathogenic
Select item 1410313	NC_000012.11:g.(?_57881874)_(58190366_?)dup	AGAP2, ARHGEF25 +17 more	Duplication	not provided	GUncertain significance
Select item 815529	GRCh37/hg19 12q13.3-14.1(chr12:57582163-59031979)x1	AGAP2, ARHGAP9 +31 more	Copy number loss	not provided	GLikely pathogenic
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 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	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 59020	GRCh38/hg38 12q13.3-14.1(chr12:57041158-60273934)x1	AGAP2, AGAP2-AS1 +162 more	Copy number loss	See cases	GPathogenic
Select item 59019	GRCh38/hg38 12q13.3-14.2(chr12:57013355-63042498)x1	AGAP2, AGAP2-AS1 +199 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 28