ClinVar for Gene (Select 22822) - ClinVar

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Links from Gene

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3306205	NM_007350.3(PHLDA1):c.1121C>T (p.Pro374Leu)	PHLDA1, PHLDA1-AS1 (P374L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306204	NM_007350.3(PHLDA1):c.1121C>A (p.Pro374Gln)	PHLDA1, PHLDA1-AS1 (P374Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306203	NM_007350.3(PHLDA1):c.1066C>G (p.Pro356Ala)	PHLDA1, PHLDA1-AS1 (P356A)	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 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 3212266	NM_007350.3(PHLDA1):c.71C>T (p.Pro24Leu)	PHLDA1 (P24L)	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 3212263	NM_007350.3(PHLDA1):c.259C>T (p.Pro87Ser)	PHLDA1 (P87S)	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 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 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 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 2608292	NM_007350.3(PHLDA1):c.22G>C (p.Glu8Gln)	LOC130008306, PHLDA1 (E8Q)	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 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 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 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 2402715	NM_007350.3(PHLDA1):c.7C>T (p.Arg3Cys)	LOC130008306, PHLDA1 (R3C)	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 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 2354951	NM_007350.3(PHLDA1):c.321C>A (p.Ser107Arg)	LOC130008305, PHLDA1 (S107R)	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 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 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 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 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 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 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 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)	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 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	GALNT8, H2AJ +1007 more	Copy number gain	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 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +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 57208	GRCh38/hg38 12q21.2-21.31(chr12:75683698-80195649)x1	BBS10, CSRP2 +77 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 40