ClinVar for Gene (Select 9373) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 572

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3214225	NM_001031689.3(PLAA):c.316T>C (p.Tyr106His)	PLAA (Y106H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214224	NM_001031689.3(PLAA):c.1873A>G (p.Ser625Gly)	PLAA (S625G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065124	NM_001031689.3(PLAA):c.1496G>A (p.Arg499His)	PLAA (R476H +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 3011775	NM_001031689.3(PLAA):c.1657+17A>C	PLAA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011414	NM_001031689.3(PLAA):c.111G>A (p.Val37=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010496	NM_001031689.3(PLAA):c.372G>C (p.Gly124=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003670	NM_001031689.3(PLAA):c.1487-12_1487-10del	PLAA	Microsatellite (intron variant)	not provided	GLikely benign
Select item 3002572	NM_001031689.3(PLAA):c.2238T>C (p.Leu746=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002004	NM_001031689.3(PLAA):c.354A>G (p.Leu118=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001208	NM_001031689.3(PLAA):c.1822+19A>G	PLAA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977484	NM_001031689.3(PLAA):c.2172A>G (p.Gln724=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974671	NM_001031689.3(PLAA):c.1566C>G (p.Ala522=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974607	NM_001031689.3(PLAA):c.660T>G (p.Thr220=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969945	NM_001031689.3(PLAA):c.734-11A>G	PLAA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969624	NM_001031689.3(PLAA):c.2307T>C (p.Asp769=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962332	NM_001031689.3(PLAA):c.909A>C (p.Arg303=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962009	NM_001031689.3(PLAA):c.525T>G (p.Val175=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956555	NM_001031689.3(PLAA):c.870-20C>A	PLAA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2916718	NM_001031689.3(PLAA):c.1549T>C (p.Phe517Leu)	PLAA (F517L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2914574	NM_001031689.3(PLAA):c.352C>A (p.Leu118Ile)	PLAA (L118I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2911581	NM_001031689.3(PLAA):c.1669G>C (p.Glu557Gln)	PLAA (E557Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2901753	NM_001031689.3(PLAA):c.678A>G (p.Val226=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900702	NM_001031689.3(PLAA):c.1056G>A (p.Gln352=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899387	NM_001031689.3(PLAA):c.156C>T (p.Asn52=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892808	NM_001031689.3(PLAA):c.1536C>T (p.Ala512=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2884316	NM_001031689.3(PLAA):c.343+10A>G	PLAA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871230	NM_001031689.3(PLAA):c.2037G>A (p.Gln679=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2866160	NM_001031689.3(PLAA):c.1555+13del	PLAA	Deletion (intron variant)	not provided	GBenign
Select item 2865856	NM_001031689.3(PLAA):c.734-15A>T	PLAA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2850960	NM_001031689.3(PLAA):c.1555+8C>A	PLAA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2847557	NM_001031689.3(PLAA):c.1556-16_1556-14del	PLAA	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2847487	NM_001031689.3(PLAA):c.322C>T (p.Leu108=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2846303	NM_001031689.3(PLAA):c.258C>A (p.Ala86=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2843056	NM_001031689.3(PLAA):c.228A>G (p.Ser76=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2839599	NM_001031689.3(PLAA):c.1185A>G (p.Leu395=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2834651	NM_001031689.3(PLAA):c.565+17C>G	PLAA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2831776	NM_001031689.3(PLAA):c.149+12G>C	PLAA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2828747	NM_001031689.3(PLAA):c.1149A>T (p.Ser383=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2816826	NM_001031689.3(PLAA):c.869+12C>G	PLAA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2816356	NM_001031689.3(PLAA):c.1822+12C>T	PLAA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2812080	NM_001031689.3(PLAA):c.42C>G (p.Leu14=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2810752	NM_001031689.3(PLAA):c.753G>A (p.Glu251=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2810061	NM_001031689.3(PLAA):c.869+9A>T	PLAA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2805724	NM_001031689.3(PLAA):c.1044T>A (p.Thr348=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2794261	NM_001031689.3(PLAA):c.445-17dup	PLAA	Duplication (intron variant)	not provided	GLikely benign
Select item 2792291	NM_001031689.3(PLAA):c.1374A>G (p.Gln458=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2789939	NM_001031689.3(PLAA):c.2163dup (p.Lys722fs)	PLAA (K722fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2788667	NM_001031689.3(PLAA):c.149+5G>A	PLAA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2787560	NM_001031689.3(PLAA):c.204A>G (p.Val68=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2787446	NM_001031689.3(PLAA):c.1146C>T (p.Gly382=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2787254	NM_001031689.3(PLAA):c.627A>G (p.Ala209=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2786079	NM_001031689.3(PLAA):c.1443T>G (p.Ser481=)	PLAA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2783898	NM_001031689.3(PLAA):c.483T>G (p.Pro161=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2781619	NM_001031689.3(PLAA):c.1486+8G>A	PLAA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2778554	NM_001031689.3(PLAA):c.870-15T>G	PLAA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2778301	NM_001031689.3(PLAA):c.1555+12T>C	PLAA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2777165	NM_001031689.3(PLAA):c.1750T>C (p.Cys584Arg)	PLAA (C561R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2772525	NM_001031689.3(PLAA):c.885A>G (p.Arg295=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2769633	NM_001031689.3(PLAA):c.903A>G (p.Glu301=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2764509	NM_001031689.3(PLAA):c.1658-14G>T	PLAA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2759486	NM_001031689.3(PLAA):c.2007C>G (p.Gly669=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2744545	NM_001031689.3(PLAA):c.258C>T (p.Ala86=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2729730	NM_001031689.3(PLAA):c.2376A>T (p.Leu792=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2729384	NM_001031689.3(PLAA):c.1040-8A>G	PLAA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2718838	NM_001031689.3(PLAA):c.997A>C (p.Asn333His)	PLAA (N333H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2711163	NM_001031689.3(PLAA):c.461T>C (p.Val154Ala)	PLAA (V154A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2700500	NM_001031689.3(PLAA):c.149+19G>T	PLAA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2698664	NM_001031689.3(PLAA):c.1418-6G>A	PLAA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2693960	NM_001031689.3(PLAA):c.1487-7A>G	PLAA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2693598	NM_001031689.3(PLAA):c.2025C>T (p.Leu675=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	ACER2, ACO1 +188 more	Copy number gain	not provided	GPathogenic
Select item 2611770	NM_001031689.3(PLAA):c.958G>A (p.Ala320Thr)	PLAA (A320T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603339	NM_001031689.3(PLAA):c.1520T>C (p.Met507Thr)	PLAA (M484T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2576685	NM_001031689.3(PLAA):c.1343C>T (p.Ala448Val)	PLAA (A448V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500440	NM_001031689.3(PLAA):c.2145_2147del (p.Lys715_Asp716delinsAsn)	PLAA	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 2497674	NM_001031689.3(PLAA):c.1800G>A (p.Trp600Ter)	PLAA (W577* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	GLikely pathogenic
Select item 2485346	NM_001031689.3(PLAA):c.452C>A (p.Thr151Lys)	PLAA (T151K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2434916	NM_001031689.3(PLAA):c.1036C>A (p.Pro346Thr)	PLAA (P346T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	GUncertain significance
Select item 2430379	NM_001031689.3(PLAA):c.215G>A (p.Cys72Tyr)	PLAA (C72Y)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	GUncertain significance
Select item 2427994	NM_001031689.3(PLAA):c.1486+10A>G	PLAA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2423693	NC_000009.11:g.(?_26905509)_(27018705_?)dup	IFT74, LRRC19 +1 more	Duplication	not provided	GUncertain significance
Select item 2423499	NC_000009.11:g.(?_26905509)_(26947043_?)dup	IFT74, PLAA	Duplication	not provided	GUncertain significance
Select item 2423498	NC_000009.11:g.(?_26925803)_(26935224_?)dup	PLAA	Duplication	not provided	GUncertain significance
Select item 2423497	NC_000009.11:g.(?_26934991)_(27220163_?)dup	IFT74, LRRC19 +2 more	Duplication	not provided	GUncertain significance
Select item 2423496	NC_000009.11:g.(?_26946875)_(27109660_?)dup	IFT74, LRRC19 +2 more	Duplication	not provided	GUncertain significance
Select item 2421677	NM_001031689.3(PLAA):c.967G>T (p.Asp323Tyr)	PLAA (D323Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2421609	NM_001031689.3(PLAA):c.191A>C (p.His64Pro)	PLAA (H64P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2420676	NM_001031689.3(PLAA):c.1822+6T>C	PLAA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2419905	NM_001031689.3(PLAA):c.444+7T>G	PLAA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2419755	NM_001031689.3(PLAA):c.1506A>G (p.Pro502=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2419090	NM_001031689.3(PLAA):c.1654T>C (p.Leu552=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2418372	NM_001031689.3(PLAA):c.247G>A (p.Gly83Ser)	PLAA (G83S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2415385	NM_001031689.3(PLAA):c.1779C>G (p.Val593=)	PLAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2307281	NM_001031689.3(PLAA):c.97G>T (p.Ala33Ser)	PLAA (A33S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301133	NM_001031689.3(PLAA):c.89C>A (p.Pro30Gln)	PLAA (P30Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297601	NM_001031689.3(PLAA):c.2092A>G (p.Ile698Val)	PLAA (I675V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297101	NM_001031689.3(PLAA):c.1520T>A (p.Met507Lys)	PLAA (M484K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280965	NM_001031689.3(PLAA):c.1531A>G (p.Met511Val)	PLAA (M511V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280129	NM_001031689.3(PLAA):c.374C>G (p.Thr125Arg)	PLAA (T125R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

<< First< Prev

Page of 6