"Baylor Genetics"[submitter] AND "POC1A"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1029400	NM_015426.5(POC1A):c.972G>A (p.Met324Ile)	POC1A (M324I +1 more)	Single nucleotide variant (missense variant)	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome	GUncertain significance
Select item 211926	NM_015426.5(POC1A):c.784C>T (p.Arg262Trp)	POC1A (R224W +1 more)	Single nucleotide variant (missense variant)	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1032692	NM_015426.5(POC1A):c.586C>T (p.His196Tyr)	POC1A (H158Y +1 more)	Single nucleotide variant (missense variant)	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome +1 more	GUncertain significance
Select item 1032691	NM_015426.5(POC1A):c.545C>T (p.Ser182Leu)	POC1A (S182L +1 more)	Single nucleotide variant (missense variant)	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome	GUncertain significance
Select item 1029399	NM_015426.5(POC1A):c.82A>G (p.Ser28Gly)	POC1A (S28G)	Single nucleotide variant (missense variant +1 more)	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome +2 more	GConflicting classifications of pathogenicity
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic

ClinVar