"GeneDx"[submitter] AND "POC1A"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
Select item 1274387	NM_015426.5(POC1A):c.*235G>A	POC1A	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1265846	NM_015426.5(POC1A):c.*62A>G	POC1A	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1306065	NM_015426.5(POC1A):c.889G>A (p.Val297Ile)	POC1A (V259I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1252721	NM_015426.5(POC1A):c.882+174C>T	POC1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236296	NM_015426.5(POC1A):c.814-279C>T	POC1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 504327	NM_015426.5(POC1A):c.707_708del (p.Ser236fs)	POC1A (S236fs +1 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1227786	NM_015426.5(POC1A):c.680-19A>T	POC1A	Single nucleotide variant (intron variant)	not provided	GBenign
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 2183488	NM_015426.5(POC1A):c.529C>T (p.Arg177Trp)	POC1A (R177W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1244771	NM_015426.5(POC1A):c.455+282A>G	POC1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 431918	NM_015426.5(POC1A):c.370G>A (p.Asp124Asn)	POC1A (D124N +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 37062	NM_015426.5(POC1A):c.241C>T (p.Arg81Ter)	POC1A (R81* +1 more)	Single nucleotide variant (nonsense)	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome +1 more	GPathogenic
Select item 129985	NM_015426.5(POC1A):c.149C>T (p.Pro50Leu)	POC1A (P12L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1286812	NM_015426.5(POC1A):c.103+272A>G	POC1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181996	NM_015426.5(POC1A):c.18+63A>G	POC1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 129986	NM_015426.5(POC1A):c.18+10G>A	POC1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253632	GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)x1	ABHD6, ACOX2 +66 more	Copy number loss	See cases	GPathogenic