ClinVar for Gene (Select 8733) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3101089	NM_003801.4(GPAA1):c.469A>T (p.Ser157Cys)	GPAA1 (S157C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3101088	NM_003801.4(GPAA1):c.409C>T (p.Arg137Cys)	GPAA1 (R137C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3101087	NM_003801.4(GPAA1):c.197G>T (p.Gly66Val)	GPAA1 (G66V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3101084	NM_003801.4(GPAA1):c.1030C>T (p.Arg344Cys)	GPAA1 (R344C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063034	GRCh37/hg19 8q24.3(chr8:144090414-145900544)x3	ADCK5, ARHGAP39 +63 more	Copy number gain	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3061118	NM_003801.4(GPAA1):c.1177_1178del (p.Trp393fs)	GPAA1 (W393fs)	Microsatellite (frameshift variant)	GPAA1-related disorder	GLikely pathogenic
Select item 3057727	NM_003801.4(GPAA1):c.405C>T (p.Ala135=)	GPAA1	Single nucleotide variant (synonymous variant)	GPAA1-related disorder	GLikely benign
Select item 3049554	NM_003801.4(GPAA1):c.619A>G (p.Met207Val)	GPAA1 (M207V)	Single nucleotide variant (missense variant)	GPAA1-related disorder	GUncertain significance
Select item 3026784	NM_003801.4(GPAA1):c.366T>C (p.Tyr122=)	GPAA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	OPLAH, PARP10 +173 more	Copy number gain	not provided	GPathogenic
Select item 3021725	NM_003801.4(GPAA1):c.705C>T (p.Leu235=)	GPAA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019337	NM_003801.4(GPAA1):c.1281C>T (p.Leu427=)	GPAA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012046	NM_003801.4(GPAA1):c.1314A>G (p.Gly438=)	GPAA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004319	NM_003801.4(GPAA1):c.616+19C>T	GPAA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001213	NM_003801.4(GPAA1):c.1623-11T>G	GPAA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991697	NM_003801.4(GPAA1):c.1011-20A>G	GPAA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989150	NM_003801.4(GPAA1):c.36G>A (p.Ala12=)	GPAA1, LOC130001364	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988961	NM_003801.4(GPAA1):c.504C>A (p.Ala168=)	GPAA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987162	NM_003801.4(GPAA1):c.570G>C (p.Leu190=)	GPAA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986529	NM_003801.4(GPAA1):c.1599G>A (p.Ala533=)	GPAA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985182	NM_003801.4(GPAA1):c.1407G>A (p.Leu469=)	GPAA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984234	NM_003801.4(GPAA1):c.1452-13C>G	GPAA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984104	NM_003801.4(GPAA1):c.1010+1G>C	GPAA1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2980975	NM_003801.4(GPAA1):c.1260+10C>A	GPAA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972790	NM_003801.4(GPAA1):c.1771G>A (p.Glu591Lys)	GPAA1 (E591K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968473	NM_003801.4(GPAA1):c.814-13T>C	GPAA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968385	NM_003801.4(GPAA1):c.617-10G>A	GPAA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963540	NM_003801.4(GPAA1):c.1818C>T (p.Gly606=)	GPAA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957256	NM_003801.4(GPAA1):c.514+9C>G	GPAA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2889593	NM_003801.4(GPAA1):c.525T>G (p.Tyr175Ter)	GPAA1 (Y175*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2882019	NM_003801.4(GPAA1):c.814-19C>G	GPAA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879914	NM_003801.4(GPAA1):c.1792C>T (p.Leu598=)	GPAA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877468	NM_003801.4(GPAA1):c.885G>A (p.Leu295=)	GPAA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877212	NM_003801.4(GPAA1):c.471C>T (p.Ser157=)	GPAA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2876031	NM_003801.4(GPAA1):c.1509G>C (p.Leu503=)	GPAA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871959	NM_003801.4(GPAA1):c.809del (p.Gly270fs)	GPAA1 (G270fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2863830	NM_003801.4(GPAA1):c.74+1G>A	LOC130001364, GPAA1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2859944	NM_003801.4(GPAA1):c.1261-20A>G	GPAA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2858085	NM_003801.4(GPAA1):c.254+11G>A	GPAA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2857243	NM_003801.4(GPAA1):c.360G>A (p.Glu120=)	GPAA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2852695	NM_003801.4(GPAA1):c.1023C>T (p.Gly341=)	GPAA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2843885	NM_003801.4(GPAA1):c.1451+7G>A	GPAA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2841137	NM_003801.4(GPAA1):c.285G>C (p.Thr95=)	GPAA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2839177	NM_003801.4(GPAA1):c.1140C>T (p.Phe380=)	GPAA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2823679	NM_003801.4(GPAA1):c.1821C>T (p.Leu607=)	GPAA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2814678	NM_003801.4(GPAA1):c.429G>A (p.Ser143=)	GPAA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2806549	NM_003801.4(GPAA1):c.708T>C (p.Asp236=)	GPAA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2805751	NM_003801.4(GPAA1):c.33C>A (p.Arg11=)	GPAA1, LOC130001364	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2800680	NM_003801.4(GPAA1):c.1451+8G>T	GPAA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2799467	NM_003801.4(GPAA1):c.1165-17G>A	GPAA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2795442	NM_003801.4(GPAA1):c.1380G>A (p.Glu460=)	GPAA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2795080	NM_003801.4(GPAA1):c.1350C>T (p.His450=)	GPAA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2794132	NM_003801.4(GPAA1):c.1260+10C>T	GPAA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2788281	NM_003801.4(GPAA1):c.813+20T>G	GPAA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2781436	NM_003801.4(GPAA1):c.75-15C>T	GPAA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2779871	NM_003801.4(GPAA1):c.612C>T (p.Val204=)	GPAA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2779106	NM_003801.4(GPAA1):c.567del (p.Leu190fs)	GPAA1 (L190fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2770577	NM_003801.4(GPAA1):c.483G>T (p.Gly161=)	GPAA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2769055	NM_003801.4(GPAA1):c.945G>A (p.Glu315=)	GPAA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2767096	NM_003801.4(GPAA1):c.1260+14C>A	GPAA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2766613	NM_003801.4(GPAA1):c.1261-13G>C	GPAA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2762801	NM_003801.4(GPAA1):c.240C>T (p.His80=)	GPAA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2759425	NM_003801.4(GPAA1):c.617-15C>G	GPAA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2755450	NM_003801.4(GPAA1):c.1401A>G (p.Thr467=)	GPAA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2755254	NM_003801.4(GPAA1):c.1470C>T (p.Ala490=)	GPAA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2753682	NM_003801.4(GPAA1):c.1260+14dup	GPAA1	Duplication (intron variant)	not provided	GBenign
Select item 2752044	NM_003801.4(GPAA1):c.228C>T (p.Asp76=)	GPAA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2748353	NM_003801.4(GPAA1):c.1223del (p.Gly408fs)	GPAA1 (G408fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2746685	NM_003801.4(GPAA1):c.285G>A (p.Thr95=)	GPAA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2745446	NM_003801.4(GPAA1):c.366+9G>A	GPAA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2732881	NM_003801.4(GPAA1):c.616+8C>T	GPAA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2713766	NM_003801.4(GPAA1):c.93G>A (p.Ala31=)	GPAA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2703060	NM_003801.4(GPAA1):c.1010+14G>C	GPAA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2693021	NM_003801.4(GPAA1):c.939T>C (p.Arg313=)	GPAA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2684562	GRCh37/hg19 8q24.3(chr8:145080420-146258478)x3	ADCK5, ARHGAP39 +40 more	Copy number gain	not provided	GUncertain significance
Select item 2684556	GRCh37/hg19 8q24.3(chr8:141419599-146295771)x3	ADCK5, ADGRB1 +95 more	Copy number gain	not provided	GPathogenic
Select item 2658967	NM_003801.4(GPAA1):c.838T>C (p.Leu280=)	GPAA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2632649	NM_003801.4(GPAA1):c.1573G>A (p.Ala525Thr)	GPAA1 (A525T)	Single nucleotide variant (missense variant)	GPAA1-related disorder	GUncertain significance
Select item 2607698	NM_003801.4(GPAA1):c.1309A>T (p.Met437Leu)	GPAA1 (M437L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607373	NM_003801.4(GPAA1):c.1172A>G (p.Glu391Gly)	GPAA1 (E391G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2585414	NM_003801.4(GPAA1):c.578A>G (p.Glu193Gly)	GPAA1 (E193G)	Single nucleotide variant (missense variant)	Glycosylphosphatidylinositol biosynthesis defect 15	GUncertain significance
Select item 2559545	NM_003801.4(GPAA1):c.1852C>T (p.Leu618Phe)	GPAA1 (L618F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557865	NM_003801.4(GPAA1):c.1235C>T (p.Pro412Leu)	GPAA1 (P412L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536833	NM_003801.4(GPAA1):c.872T>A (p.Leu291Gln)	GPAA1 (L291Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2505736	NM_003801.4(GPAA1):c.1243C>A (p.Pro415Thr)	GPAA1 (P415T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2496518	NM_003801.4(GPAA1):c.1226C>A (p.Ala409Asp)	GPAA1 (A409D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480238	NM_003801.4(GPAA1):c.1194G>C (p.Glu398Asp)	GPAA1 (E398D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477259	NM_003801.4(GPAA1):c.920G>A (p.Gly307Asp)	GPAA1 (G307D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474872	NM_003801.4(GPAA1):c.684C>A (p.Ser228Arg)	GPAA1 (S228R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474539	NM_003801.4(GPAA1):c.844G>A (p.Gly282Arg)	GPAA1 (G282R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474358	NM_003801.4(GPAA1):c.631C>G (p.Pro211Ala)	GPAA1 (P211A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2446514	NM_003801.4(GPAA1):c.7C>G (p.Leu3Val)	GPAA1, LOC130001364 (L3V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446513	NM_003801.4(GPAA1):c.601G>A (p.Asp201Asn)	GPAA1 (D201N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432238	NM_003801.4(GPAA1):c.1A>C (p.Met1Leu)	GPAA1, LOC130001364 (M1L)	Single nucleotide variant (missense variant +1 more)	Glycosylphosphatidylinositol biosynthesis defect 15	GUncertain significance
Select item 2431660	NM_003801.4(GPAA1):c.499G>C (p.Ala167Pro)	GPAA1 (A167P)	Single nucleotide variant (missense variant)	Glycosylphosphatidylinositol biosynthesis defect 15	GUncertain significance
Select item 2424759	NC_000008.10:g.(?_145137634)_(145138963_?)del	GPAA1	Deletion	not provided	GPathogenic
Select item 2421415	NM_003801.4(GPAA1):c.1592C>G (p.Thr531Ser)	GPAA1 (T531S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2421392	NM_003801.4(GPAA1):c.617-6C>T	GPAA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2421248	NM_003801.4(GPAA1):c.1451G>A (p.Arg484Gln)	GPAA1 (R484Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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