25886[geneid] - ClinVar - NCBI

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	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 155564	GRCh38/hg38 3p21.2-14.3(chr3:51394434-55064449)x1	ABHD14A, ABHD14A-ACY1 +197 more	Copy number loss	See cases	GLikely pathogenic
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 2090055	NM_015426.5(POC1A):c.1222T>C (p.Ter408Arg)	POC1A	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 1924821	NM_015426.5(POC1A):c.1170G>A (p.Lys390=)	POC1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1903508	NM_015426.5(POC1A):c.1149G>T (p.Arg383=)	POC1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2573579	NM_015426.5(POC1A):c.1126_1129delACAG	POC1A	Deletion (splice acceptor variant)	not specified	GUncertain significance
Select item 1371335	NM_015426.5(POC1A):c.1109T>C (p.Leu370Pro)	POC1A (L332P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1516496	NM_015426.5(POC1A):c.1085C>T (p.Thr362Met)	POC1A (T324M +1 more)	Single nucleotide variant (missense variant +1 more)	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome +1 more	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 981226	NM_015426.5(POC1A):c.1048del (p.Gln350fs)	POC1A (Q312fs +1 more)	Deletion (frameshift variant +1 more)	POC1A-related syndrome	GPathogenic
Select item 129984	NM_015426.5(POC1A):c.1044G>T (p.Gln348His)	POC1A (Q310H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 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 1427833	NM_015426.5(POC1A):c.1006C>G (p.Pro336Ala)	POC1A (P298A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2996856	NM_015426.5(POC1A):c.993C>T (p.Asp331=)	POC1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1644215	NM_015426.5(POC1A):c.984A>G (p.Pro328=)	POC1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1958574	NM_015426.5(POC1A):c.982-6del	POC1A	Deletion (intron variant)	not provided	GLikely benign
Select item 784467	NM_015426.5(POC1A):c.982-8G>T	POC1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 784468	NM_015426.5(POC1A):c.982-10C>T	POC1A	Single nucleotide variant (intron variant)	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 1645819	NM_015426.5(POC1A):c.982-20T>G	POC1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192285	NM_015426.5(POC1A):c.981+1G>A	POC1A	Single nucleotide variant (splice donor variant)	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome	GPathogenic
Select item 1518740	NM_015426.5(POC1A):c.980T>C (p.Leu327Pro)	POC1A (L289P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990397	NM_015426.5(POC1A):c.978T>C (p.Asn326=)	POC1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1714857	NM_015426.5(POC1A):c.967T>G (p.Ser323Ala)	POC1A (S285A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2807328	NM_015426.5(POC1A):c.957A>G (p.Thr319=)	POC1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 129987	NM_015426.5(POC1A):c.915T>G (p.Val305=)	POC1A	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 1690956	NM_015426.5(POC1A):c.893G>A (p.Trp298Ter)	POC1A (W260* +1 more)	Single nucleotide variant (nonsense)	See cases +1 more	GLikely pathogenic
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 981225	NM_015426.5(POC1A):c.884del (p.Val295fs)	POC1A (V257fs +1 more)	Deletion (frameshift variant)	POC1A-related syndrome	GPathogenic
Select item 1948535	NM_015426.5(POC1A):c.883-18G>T	POC1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1252721	NM_015426.5(POC1A):c.882+174C>T	POC1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1954951	NM_015426.5(POC1A):c.882+7A>G	POC1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1945579	NM_015426.5(POC1A):c.882+1G>A	POC1A	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 996335	NM_015426.5(POC1A):c.850dup (p.Glu284fs)	POC1A (E246fs +1 more)	Duplication (frameshift variant)	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome	GPathogenic
Select item 778083	NM_015426.5(POC1A):c.846G>A (p.Thr282=)	POC1A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 726513	NM_015426.5(POC1A):c.845C>T (p.Thr282Met)	POC1A (T244M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 587474	NM_015426.5(POC1A):c.836T>G (p.Phe279Cys)	POC1A (F241C +1 more)	Single nucleotide variant (missense variant)	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome	GUncertain significance
Select item 2108325	NM_015426.5(POC1A):c.814-4_814-2del	POC1A	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2008353	NM_015426.5(POC1A):c.814-10G>A	POC1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236296	NM_015426.5(POC1A):c.814-279C>T	POC1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3021968	NM_015426.5(POC1A):c.813+12C>T	POC1A	Single nucleotide variant (intron 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 2790340	NM_015426.5(POC1A):c.813+9T>C	POC1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1906314	NM_015426.5(POC1A):c.807G>A (p.Gly269=)	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 1968644	NM_015426.5(POC1A):c.798A>G (p.Thr266=)	POC1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1616486	NM_015426.5(POC1A):c.786G>A (p.Arg262=)	POC1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 1394310	NM_015426.5(POC1A):c.776T>C (p.Met259Thr)	POC1A (M221T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 813595	NM_015426.5(POC1A):c.769G>A (p.Asp257Asn)	POC1A (D219N +1 more)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 1546462	NM_015426.5(POC1A):c.765C>T (p.Ile255=)	POC1A	Single nucleotide variant (synonymous 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 3017879	NM_015426.5(POC1A):c.757C>T (p.Leu253=)	POC1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 755386	NM_015426.5(POC1A):c.732G>C (p.Leu244=)	POC1A	Single nucleotide variant (synonymous 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 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 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 504327	NM_015426.5(POC1A):c.707_708del (p.Ser236fs)	POC1A (S236fs +1 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
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 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 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 1567457	NM_015426.5(POC1A):c.680-10C>T	POC1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1227786	NM_015426.5(POC1A):c.680-19A>T	POC1A	Single nucleotide variant (intron variant)	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 1957688	NM_015426.5(POC1A):c.679+17C>T	POC1A	Single nucleotide variant (intron variant)	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 1365036	NM_015426.5(POC1A):c.678G>A (p.Gln226=)	POC1A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1323481	NM_015426.5(POC1A):c.667_668dup (p.Gln223fs)	POC1A (Q185fs +1 more)	Duplication (frameshift variant)	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome	GPathogenic
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 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 1224365	NM_015426.5(POC1A):c.649C>T (p.Arg217Trp)	POC1A (R179W +1 more)	Single nucleotide variant (missense variant)	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1380293	NM_015426.5(POC1A):c.646G>A (p.Val216Met)	POC1A (V178M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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 1158067	NM_015426.5(POC1A):c.610G>A (p.Ala204Thr)	POC1A (A166T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 996336	NM_015426.5(POC1A):c.593_605del (p.Ser198fs)	POC1A (S160fs +1 more)	Deletion (frameshift variant)	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome	GPathogenic
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 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 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 1623531	NM_015426.5(POC1A):c.575A>G (p.Tyr192Cys)	POC1A (Y154C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 1423922	NM_015426.5(POC1A):c.571A>G (p.Thr191Ala)	POC1A (T153A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3042604	NM_015426.5(POC1A):c.564-10G>C	POC1A	Single nucleotide variant (intron variant)	POC1A-related disorder	GLikely benign
Select item 1962834	NM_015426.5(POC1A):c.563+14T>C	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 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 1438614	NM_015426.5(POC1A):c.557A>G (p.His186Arg)	POC1A (H148R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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