ClinVar for Gene (Select 51535) - ClinVar

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Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3309163	NM_201439.2(PPHLN1):c.200T>A (p.Phe67Tyr)	PPHLN1 (F74Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309162	NM_201439.2(PPHLN1):c.498G>C (p.Gln166His)	PPHLN1 (Q118H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309161	NM_201439.2(PPHLN1):c.395A>G (p.Glu132Gly)	PPHLN1 (E139G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309160	NM_201439.2(PPHLN1):c.520C>T (p.Arg174Cys)	PPHLN1 (R174C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309159	NM_201439.2(PPHLN1):c.350C>T (p.Ala117Val)	PPHLN1 (A117V +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3217168	NM_201439.2(PPHLN1):c.908A>C (p.Gln303Pro)	PPHLN1 (Q303P +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217167	NM_201439.2(PPHLN1):c.735T>G (p.Asp245Glu)	PPHLN1 (D245E +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217166	NM_201439.2(PPHLN1):c.734A>G (p.Asp245Gly)	PPHLN1 (D226G +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217165	NM_201439.2(PPHLN1):c.71G>C (p.Ser24Thr)	PPHLN1 (S24T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217163	NM_201439.2(PPHLN1):c.598A>T (p.Thr200Ser)	PPHLN1 (T126S +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217162	NM_201439.2(PPHLN1):c.332T>C (p.Phe111Ser)	PPHLN1 (F10S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063272	GRCh37/hg19 12q12-13.11(chr12:38258635-48235837)x3	ABCD2, ADAMTS20 +34 more	Copy number gain	not specified	GPathogenic
Select item 2684671	GRCh37/hg19 12q12(chr12:42479450-42890970)x3	GXYLT1, PPHLN1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2621237	NM_201439.2(PPHLN1):c.268G>A (p.Asp90Asn)	PPHLN1 (D35N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529881	NM_201439.2(PPHLN1):c.304A>G (p.Met102Val)	PPHLN1 (M102V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521623	NM_201439.2(PPHLN1):c.526G>C (p.Gly176Arg)	PPHLN1 (G128R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520106	NM_201439.2(PPHLN1):c.644C>T (p.Ser215Leu)	PPHLN1 (S196L +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482928	NM_201439.2(PPHLN1):c.358C>G (p.Arg120Gly)	PPHLN1 (R127G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457314	NM_201439.2(PPHLN1):c.240T>A (p.Asp80Glu)	PPHLN1 (D25E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370484	NM_201439.2(PPHLN1):c.355G>C (p.Glu119Gln)	PPHLN1 (E71Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337755	NM_201439.2(PPHLN1):c.521G>A (p.Arg174His)	PPHLN1 (R181H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281147	NM_201439.2(PPHLN1):c.917G>A (p.Arg306Gln)	PPHLN1 (R258Q +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236235	NM_201439.2(PPHLN1):c.679A>G (p.Lys227Glu)	PPHLN1 (K234E +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809396	GRCh37/hg19 12q12(chr12:39560669-43285298)x1	ABCD2, C12orf40 +11 more	Copy number loss	not provided	GUncertain significance
Select item 1527702	GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)	ABCD2, ADAMTS20 +72 more	Copy number gain	not specified	GPathogenic
Select item 1048618	GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3	PPHLN1, PRICKLE1 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 979961	GRCh37/hg19 12q12(chr12:40678619-43945453)x4	PRICKLE1, GXYLT1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 560125	Single allele	CNTN1, GXYLT1 +8 more	Duplication	not provided	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
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 221992	GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3	ABCD2, ADAMTS20 +92 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 149635	GRCh38/hg38 12q12-13.11(chr12:40713887-46551900)x1	ADAMTS20, ANO6 +113 more	Copy number loss	See cases	GPathogenic
Select item 144217	GRCh38/hg38 12q12(chr12:41782886-42950380)x1	GXYLT1, LINC02402 +33 more	Copy number loss	See cases	GUncertain significance

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Links from Gene

Items: 36