PHLDA1[gene] - ClinVar

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

Search results

Items: 37

	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 147046	GRCh38/hg38 12q15-21.2(chr12:69769737-76964217)x1	ATXN7L3B, BBS10 +125 more	Copy number loss	See cases	GPathogenic
Select item 57584	GRCh38/hg38 12q15-21.31(chr12:70337484-81761145)x1	ACSS3, ATXN7L3B +163 more	Copy number loss	See cases	GPathogenic
Select item 155032	GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1	ACSS3, ALX1 +287 more	Copy number loss	See cases	GPathogenic
Select item 57208	GRCh38/hg38 12q21.2-21.31(chr12:75683698-80195649)x1	BBS10, CSRP2 +77 more	Copy number loss	See cases	GPathogenic
Select item 2363196	NM_007350.3(PHLDA1):c.1154A>C (p.His385Pro)	PHLDA1, PHLDA1-AS1 (H385P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212261	NM_007350.3(PHLDA1):c.1102C>T (p.Pro368Ser)	PHLDA1, PHLDA1-AS1 (P368S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250712	NM_007350.3(PHLDA1):c.1091C>T (p.Ser364Leu)	PHLDA1, PHLDA1-AS1 (S364L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212260	NM_007350.3(PHLDA1):c.1077C>G (p.His359Gln)	PHLDA1, PHLDA1-AS1 (H359Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590207	NM_007350.3(PHLDA1):c.980C>T (p.Pro327Leu)	PHLDA1, PHLDA1-AS1 (P327L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520015	NM_007350.3(PHLDA1):c.970C>G (p.Gln324Glu)	PHLDA1, PHLDA1-AS1 (Q324E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285584	NM_007350.3(PHLDA1):c.925T>A (p.Ser309Thr)	PHLDA1, PHLDA1-AS1 (S309T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212268	NM_007350.3(PHLDA1):c.835C>A (p.Gln279Lys)	PHLDA1, PHLDA1-AS1 (Q279K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248771	NM_007350.3(PHLDA1):c.807C>G (p.Asp269Glu)	PHLDA1, PHLDA1-AS1 (D269E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212267	NM_007350.3(PHLDA1):c.760G>A (p.Val254Met)	PHLDA1, PHLDA1-AS1 (V254M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2320757	NM_007350.3(PHLDA1):c.666C>A (p.Ser222Arg)	PHLDA1, PHLDA1-AS1 (S222R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486742	NM_007350.3(PHLDA1):c.642A>C (p.Gln214His)	PHLDA1, PHLDA1-AS1 (Q214H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2787755	NM_007350.3(PHLDA1):c.570GCA[4] (p.Gln204del)	PHLDA1, PHLDA1-AS1 (Q204del)	Microsatellite (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2520399	NM_007350.3(PHLDA1):c.485G>T (p.Gly162Val)	PHLDA1, PHLDA1-AS1 (G162V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324323	NM_007350.3(PHLDA1):c.463G>C (p.Val155Leu)	PHLDA1, PHLDA1-AS1 (V155L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212264	NM_007350.3(PHLDA1):c.437G>T (p.Ser146Ile)	PHLDA1, PHLDA1-AS1 (S146I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2204047	NM_007350.3(PHLDA1):c.385G>C (p.Glu129Gln)	LOC130008305, PHLDA1 +1 more (E129Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354951	NM_007350.3(PHLDA1):c.321C>A (p.Ser107Arg)	LOC130008305, PHLDA1 (S107R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276520	NM_007350.3(PHLDA1):c.305C>A (p.Ala102Glu)	LOC130008305, PHLDA1 (A102E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254448	NM_007350.3(PHLDA1):c.302G>T (p.Arg101Leu)	LOC130008305, PHLDA1 (R101L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212263	NM_007350.3(PHLDA1):c.259C>T (p.Pro87Ser)	PHLDA1 (P87S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212266	NM_007350.3(PHLDA1):c.71C>T (p.Pro24Leu)	PHLDA1 (P24L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400456	NM_007350.3(PHLDA1):c.38T>C (p.Leu13Pro)	LOC130008306, PHLDA1 (L13P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608292	NM_007350.3(PHLDA1):c.22G>C (p.Glu8Gln)	LOC130008306, PHLDA1 (E8Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402715	NM_007350.3(PHLDA1):c.7C>T (p.Arg3Cys)	LOC130008306, PHLDA1 (R3C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063254	GRCh37/hg19 12q21.1-21.31(chr12:73466055-82398026)x1	ACSS3, ATXN7L3B +23 more	Copy number loss	not specified	GUncertain significance
Select item 3063243	GRCh37/hg19 12q21.1-21.33(chr12:74887087-90469800)x1	ACSS3, ALX1 +43 more	Copy number loss	not specified	GPathogenic
Select item 1340527	GRCh37/hg19 12q15-21.2(chr12:70084476-77065764)x1	TBC1D15, THAP2 +25 more	Copy number loss	not provided	GPathogenic
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 395581	GRCh37/hg19 12q21.2(chr12:76420290-76478696)x3	NAP1L1, PHLDA1	Copy number gain	See cases	GLikely benign
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 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: 37