ClinVar for Gene (Select 90809) - ClinVar

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Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3306690	NM_144568.4(PIP4P1):c.142+18C>G	PIP4P1 (Q54E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3306689	NM_144568.4(PIP4P1):c.785T>C (p.Leu262Pro)	PIP4P1 (L269P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306687	NM_144568.4(PIP4P1):c.707A>G (p.His236Arg)	PIP4P1 (H243R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244070	NC_000014.8:g.(?_20915399)_(22005055_?)dup	ANG, APEX1 +38 more	Duplication	not provided	GUncertain significance
Select item 3213151	NM_144568.4(PIP4P1):c.822G>C (p.Gln274His)	PIP4P1 (Q274H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213150	NM_144568.4(PIP4P1):c.778C>T (p.Arg260Trp)	PIP4P1 (R260W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213149	NM_144568.4(PIP4P1):c.716G>A (p.Arg239Gln)	PIP4P1 (R239Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213148	NM_144568.4(PIP4P1):c.634T>C (p.Cys212Arg)	PIP4P1 (C212R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213147	NM_144568.4(PIP4P1):c.631A>G (p.Arg211Gly)	PIP4P1 (R211G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213146	NM_144568.4(PIP4P1):c.626G>A (p.Arg209His)	PIP4P1 (R209H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213145	NM_144568.4(PIP4P1):c.613C>T (p.Arg205Cys)	PIP4P1 (R205C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213144	NM_144568.4(PIP4P1):c.565C>T (p.Arg189Cys)	PIP4P1 (R189C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213143	NM_144568.4(PIP4P1):c.145T>C (p.Phe49Leu)	PIP4P1 (F49L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213142	NM_144568.4(PIP4P1):c.139G>A (p.Ala47Thr)	PIP4P1 (A47T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213141	NM_144568.4(PIP4P1):c.107G>A (p.Gly36Glu)	PIP4P1 (G36E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2592087	NM_144568.4(PIP4P1):c.94G>A (p.Ala32Thr)	PIP4P1 (A32T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463235	NM_144568.4(PIP4P1):c.50G>A (p.Gly17Asp)	PIP4P1 (G17D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422759	NC_000014.8:g.(?_20915399)_(22005055_?)del	PNP, RNASE12 +38 more	Deletion	Purine-nucleoside phosphorylase deficiency	GPathogenic
Select item 1808729	GRCh37/hg19 14q11.2(chr14:20690196-23114522)x1	ABHD4, ANG +52 more	Copy number loss	not provided	GPathogenic
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1527801	GRCh37/hg19 14q11.2(chr14:20664697-21017250)	APEX1, CCNB1IP1 +12 more	Copy number gain	not specified	GUncertain significance
Select item 1326312	GRCh37/hg19 14q11.2(chr14:20925965-23649548)x3	PRMT5, PSMB11 +60 more	Copy number gain	14q11.2 microduplication	GLikely pathogenic
Select item 980000	GRCh37/hg19 14q11.2(chr14:20511672-21915516)x1	ANG, APEX1 +46 more	Copy number loss	not provided	GPathogenic
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 726812	NM_144568.4(PIP4P1):c.756G>C (p.Leu252=)	PIP4P1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 685568	GRCh37/hg19 14q11.2(chr14:20511672-21174548)x3	ANG, APEX1 +25 more	Copy number gain	not provided	GUncertain significance
Select item 625814	GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	ARHGEF40, BCL2L2 +152 more	Copy number gain	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	OR5AU1, OR6S1 +164 more	Copy number gain	See cases	GPathogenic
Select item 253659	GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	ABHD4, ACIN1 +149 more	Copy number gain	See cases	GPathogenic
Select item 221495	GRCh37/hg19 14q11.2(chr14:20922785-20937690)x3	PNP, APEX1 +2 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	ABCD4, ABHD12B +3281 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	ABCD4, ABHD12B +3276 more	Copy number gain	See cases	GPathogenic
Select item 59933	GRCh38/hg38 14q11.2(chr14:20127290-21376436)x3	ANG, APEX1 +119 more	Copy number gain	See cases	GPathogenic
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 57743	GRCh38/hg38 14q11.2(chr14:19755249-22741281)x1	ABHD4, ANG +312 more	Copy number loss	See cases	GPathogenic
Select item 57246	GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	ABHD4, ACIN1 +399 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 44