PDLIM4[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 6348	NC_000005.10:g.132251371C>T	PDLIM4	Single nucleotide variant	Bone mineral density quantitative trait locus 15	Grisk factor
Select item 2351689	NM_003687.4(PDLIM4):c.11C>T (p.Ser4Phe)	PDLIM4 (S4F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3239453	NM_003687.4(PDLIM4):c.61C>T (p.Arg21Trp)	PDLIM4 (R21W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2655694	NM_003687.4(PDLIM4):c.245+4T>C	PDLIM4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2254781	NM_003687.4(PDLIM4):c.338C>G (p.Pro113Arg)	PDLIM4 (P113R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306212	NM_003687.4(PDLIM4):c.356C>T (p.Pro119Leu)	PDLIM4 (P119L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211005	NM_003687.4(PDLIM4):c.419C>T (p.Pro140Leu)	PDLIM4 (P140L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528283	NM_003687.4(PDLIM4):c.422C>G (p.Pro141Arg)	PDLIM4 (P141R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216305	NM_003687.4(PDLIM4):c.454G>A (p.Glu152Lys)	PDLIM4 (E152K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305574	NM_003687.4(PDLIM4):c.574A>T (p.Arg192Trp)	PDLIM4 (R192W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346778	NM_003687.4(PDLIM4):c.661G>T (p.Gly221Cys)	PDLIM4 (G221C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211006	NM_003687.4(PDLIM4):c.855C>T (p.Gly285=)	PDLIM4 (A246V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2306612	NM_003687.4(PDLIM4):c.988G>T (p.Val330Phe)	PDLIM4 (V330F)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance