ClinVar for Gene (Select 25886) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341413	NM_015426.5(POC1A):c.104-2A>C	POC1A	Single nucleotide variant (splice acceptor variant)	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome	GLikely pathogenic
Select item 3308211	NM_015426.5(POC1A):c.1022G>T (p.Ser341Ile)	POC1A (S303I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3308210	NM_015426.5(POC1A):c.1057G>A (p.Val353Met)	POC1A (V315M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3256658	NM_015426.5(POC1A):c.689_696del (p.Ala230fs)	POC1A (A192fs +1 more)	Deletion (frameshift variant)	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome	GPathogenic
Select item 3250429	NM_015426.5(POC1A):c.55C>T (p.Arg19Ter)	POC1A (R19*)	Single nucleotide variant (nonsense +1 more)	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome	GLikely pathogenic
Select item 3216143	NM_015426.5(POC1A):c.785G>A (p.Arg262Gln)	POC1A (R262Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216142	NM_015426.5(POC1A):c.718T>A (p.Ser240Thr)	POC1A (S240T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216141	NM_015426.5(POC1A):c.445C>T (p.Arg149Cys)	POC1A (R111C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062680	GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1	ABHD14A, ABHD14B +86 more	Copy number loss	not specified	GPathogenic
Select item 3042604	NM_015426.5(POC1A):c.564-10G>C	POC1A	Single nucleotide variant (intron variant)	POC1A-related disorder	GLikely benign
Select item 3021968	NM_015426.5(POC1A):c.813+12C>T	POC1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017879	NM_015426.5(POC1A):c.757C>T (p.Leu253=)	POC1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004590	NM_015426.5(POC1A):c.9G>C (p.Ala3=)	POC1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3002560	NM_015426.5(POC1A):c.679+20C>T	POC1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996856	NM_015426.5(POC1A):c.993C>T (p.Asp331=)	POC1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2992344	NM_015426.5(POC1A):c.982-20T>C	POC1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990397	NM_015426.5(POC1A):c.978T>C (p.Asn326=)	POC1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979777	NM_015426.5(POC1A):c.275+7dup	POC1A	Duplication (intron variant)	not provided	GLikely benign
Select item 2975866	NM_015426.5(POC1A):c.483G>T (p.Val161=)	POC1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965003	NM_015426.5(POC1A):c.1086G>A (p.Thr362=)	POC1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2957391	NM_015426.5(POC1A):c.2T>C (p.Met1Thr)	POC1A (M1T)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 2907619	NM_015426.5(POC1A):c.234C>T (p.Ser78=)	POC1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906427	NM_015426.5(POC1A):c.225G>C (p.Leu75=)	POC1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902070	NM_015426.5(POC1A):c.804C>T (p.His268=)	POC1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874691	NM_015426.5(POC1A):c.9G>T (p.Ala3=)	POC1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2844330	NM_015426.5(POC1A):c.456-5T>C	POC1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2807328	NM_015426.5(POC1A):c.957A>G (p.Thr319=)	POC1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2791171	NM_015426.5(POC1A):c.103+20C>T	POC1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2790520	NM_015426.5(POC1A):c.762G>A (p.Lys254=)	POC1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2790340	NM_015426.5(POC1A):c.813+9T>C	POC1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2781597	NM_015426.5(POC1A):c.519C>T (p.Asp173=)	POC1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2761747	NM_015426.5(POC1A):c.63A>G (p.Ala21=)	POC1A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2752451	NM_015426.5(POC1A):c.679+8G>A	POC1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2708843	NM_015426.5(POC1A):c.729C>G (p.Tyr243Ter)	POC1A (Y205* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2585081	NM_015426.5(POC1A):c.431A>G (p.His144Arg)	POC1A (H106R +1 more)	Single nucleotide variant (missense variant)	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome	GUncertain significance
Select item 2573579	NM_015426.5(POC1A):c.1126_1129delACAG	POC1A	Deletion (splice acceptor variant)	not specified	GUncertain significance
Select item 2526828	NM_015426.5(POC1A):c.946C>T (p.Pro316Ser)	POC1A (P316S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516479	NM_015426.5(POC1A):c.680T>C (p.Leu227Ser)	POC1A (L189S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511215	NM_015426.5(POC1A):c.601T>C (p.Cys201Arg)	POC1A (C201R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482769	NM_015426.5(POC1A):c.919C>T (p.His307Tyr)	POC1A (H307Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2428762	NM_015426.5(POC1A):c.80_81insA (p.Phe27fs)	POC1A (F27fs)	Insertion (frameshift variant +1 more)	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome	GPathogenic
Select item 2427145	NC_000003.11:g.(?_52109903)_(53164416_?)del	ALAS1, BAP1 +28 more	Deletion	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2426147	NC_000003.11:g.(?_52188351)_(52188388_?)del	POC1A	Deletion	not provided	GPathogenic
Select item 2426146	NC_000003.11:g.(?_52018081)_(52188388_?)del	ACY1, DUSP7 +2 more	Deletion	not provided	GPathogenic
Select item 2423375	NC_000003.11:g.(?_52018081)_(53845433_?)del	ACY1, ALAS1 +35 more	Deletion	not provided	GUncertain significance
Select item 2417697	NM_015426.5(POC1A):c.150G>T (p.Pro50=)	POC1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2416216	NM_015426.5(POC1A):c.813+10G>A	POC1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2388542	NM_015426.5(POC1A):c.160G>A (p.Ala54Thr)	POC1A (A54T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318669	NM_015426.5(POC1A):c.236G>A (p.Gly79Asp)	POC1A (G41D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314420	NM_015426.5(POC1A):c.686G>A (p.Ser229Asn)	POC1A (S229N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288533	NM_015426.5(POC1A):c.655C>T (p.His219Tyr)	POC1A (H219Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279845	NM_015426.5(POC1A):c.562G>A (p.Gly188Ser)	POC1A (G150S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274819	NM_015426.5(POC1A):c.85A>G (p.Ile29Val)	POC1A (I29V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2251212	NM_015426.5(POC1A):c.392C>T (p.Ala131Val)	POC1A (A131V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213672	NM_015426.5(POC1A):c.20A>G (p.Glu7Gly)	POC1A (E7G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2182770	NM_015426.5(POC1A):c.276-9T>C	POC1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2182415	NM_015426.5(POC1A):c.1005C>T (p.Pro335=)	POC1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2153436	NM_015426.5(POC1A):c.616G>A (p.Gly206Ser)	POC1A (G168S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2130650	NM_015426.5(POC1A):c.12C>T (p.Pro4=)	POC1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2108325	NM_015426.5(POC1A):c.814-4_814-2del	POC1A	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2095489	NM_015426.5(POC1A):c.964A>G (p.Ser322Gly)	POC1A (S322G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2090055	NM_015426.5(POC1A):c.1222T>C (p.Ter408Arg)	POC1A	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 2088747	NM_015426.5(POC1A):c.902A>G (p.Asn301Ser)	POC1A (N263S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2062266	NM_015426.5(POC1A):c.248A>G (p.Lys83Arg)	POC1A (K45R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2046592	NM_015426.5(POC1A):c.725A>G (p.Asn242Ser)	POC1A (N242S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2018526	NM_015426.5(POC1A):c.19-8T>G	POC1A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2012870	NM_015426.5(POC1A):c.614C>G (p.Ala205Gly)	POC1A (A167G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2008353	NM_015426.5(POC1A):c.814-10G>A	POC1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2001960	NM_015426.5(POC1A):c.1035G>A (p.Val345=)	POC1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1999976	NM_015426.5(POC1A):c.104-14C>T	POC1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1995268	NM_015426.5(POC1A):c.141C>T (p.His47=)	POC1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1989731	NM_015426.5(POC1A):c.13T>C (p.Cys5Arg)	POC1A (C5R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1976357	NM_015426.5(POC1A):c.478A>G (p.Ile160Val)	POC1A (I160V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1968644	NM_015426.5(POC1A):c.798A>G (p.Thr266=)	POC1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1965199	NM_015426.5(POC1A):c.480C>G (p.Ile160Met)	POC1A (I122M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1962834	NM_015426.5(POC1A):c.563+14T>C	POC1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1962607	NM_015426.5(POC1A):c.302C>T (p.Ala101Val)	POC1A (A101V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1962101	NM_015426.5(POC1A):c.574T>G (p.Tyr192Asp)	POC1A (Y154D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1958574	NM_015426.5(POC1A):c.982-6del	POC1A	Deletion (intron variant)	not provided	GLikely benign
Select item 1957688	NM_015426.5(POC1A):c.679+17C>T	POC1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1954951	NM_015426.5(POC1A):c.882+7A>G	POC1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1948535	NM_015426.5(POC1A):c.883-18G>T	POC1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1948167	NM_015426.5(POC1A):c.563+12G>C	POC1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1946319	NM_015426.5(POC1A):c.276-2A>T	POC1A	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1945579	NM_015426.5(POC1A):c.882+1G>A	POC1A	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1940932	NM_015426.5(POC1A):c.275+7C>T	POC1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1934418	NM_015426.5(POC1A):c.103+18G>C	POC1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1924821	NM_015426.5(POC1A):c.1170G>A (p.Lys390=)	POC1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1923115	NM_015426.5(POC1A):c.619A>G (p.Met207Val)	POC1A (M169V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1918952	NM_015426.5(POC1A):c.161C>T (p.Ala54Val)	POC1A (A54V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1915525	NM_015426.5(POC1A):c.932C>T (p.Thr311Met)	POC1A (T273M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1912671	NM_015426.5(POC1A):c.589C>T (p.Pro197Ser)	POC1A (P159S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1906314	NM_015426.5(POC1A):c.807G>A (p.Gly269=)	POC1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1905015	NM_015426.5(POC1A):c.530G>A (p.Arg177Gln)	POC1A (R139Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1903508	NM_015426.5(POC1A):c.1149G>T (p.Arg383=)	POC1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1899497	NM_015426.5(POC1A):c.531G>A (p.Arg177=)	POC1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1806089	NM_015426.5(POC1A):c.176G>A (p.Gly59Asp)	POC1A (G21D +1 more)	Single nucleotide variant (missense variant)	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome	GUncertain significance
Select item 1716206	NM_015426.5(POC1A):c.657C>G (p.His219Gln)	POC1A (H181Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1714857	NM_015426.5(POC1A):c.967T>G (p.Ser323Ala)	POC1A (S285A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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