ClinVar for Gene (Select 126326) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3281416	NM_133261.3(GIPC3):c.855C>T (p.Ser285=)	GIPC3 (R290C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3257409	NM_133261.3(GIPC3):c.721G>C (p.Glu241Gln)	GIPC3 (E241Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3248515	NC_000019.9:g.(?_2430909)_(4171966_?)del	APBA3, ATCAY +42 more	Deletion	RASopathy	GUncertain significance
Select item 3099897	NM_133261.3(GIPC3):c.313C>T (p.His105Tyr)	GIPC3 (H105Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067781	NM_133261.3(GIPC3):c.569T>C (p.Leu190Pro)	GIPC3 (L190P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3067408	NM_133261.3(GIPC3):c.85del (p.Ala29fs)	GIPC3 (A29fs)	Deletion (frameshift variant)	Rare genetic deafness +1 more	GConflicting classifications of pathogenicity
Select item 3065869	NM_133261.3(GIPC3):c.592+2T>C	GIPC3	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 15	GLikely pathogenic
Select item 3044838	NM_133261.3(GIPC3):c.350del (p.Lys117fs)	GIPC3 (K117fs)	Deletion (frameshift variant)	GIPC3-related disorder	GLikely pathogenic
Select item 3042992	NM_133261.3(GIPC3):c.114C>G (p.Val38=)	GIPC3	Single nucleotide variant (synonymous variant)	GIPC3-related disorder +1 more	GLikely benign
Select item 3036728	NM_133261.3(GIPC3):c.706-8G>T	GIPC3	Single nucleotide variant (intron variant)	GIPC3-related disorder	GLikely benign
Select item 3025994	NM_133261.3(GIPC3):c.*1218G>C	GIPC3 (E724Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3025910	NM_133261.3(GIPC3):c.31G>A (p.Gly11Arg)	GIPC3 (G11R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991401	NM_133261.3(GIPC3):c.513C>T (p.Tyr171=)	GIPC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974676	NM_133261.3(GIPC3):c.891G>A (p.Val297=)	GIPC3 (G302S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2817300	NM_133261.3(GIPC3):c.81C>G (p.Pro27=)	GIPC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2718743	NM_133261.3(GIPC3):c.882C>T (p.Asp294=)	GIPC3 (R299*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely benign
Select item 2713486	NM_133261.3(GIPC3):c.226-9C>T	GIPC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2704304	NM_133261.3(GIPC3):c.684G>C (p.Gly228=)	GIPC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2689130	NM_133261.3(GIPC3):c.103C>G (p.Pro35Ala)	GIPC3 (P35A)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 15	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 2649002	NM_133261.3(GIPC3):c.*2754A>C	GIPC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2649001	NM_133261.3(GIPC3):c.*2608C>T	GIPC3 (T1187I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2649000	NM_133261.3(GIPC3):c.*2039C>T	GIPC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2648999	NM_133261.3(GIPC3):c.*1930C>T	GIPC3 (A961V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2648998	NM_133261.3(GIPC3):c.*1217G>A	GIPC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2648997	NM_133261.3(GIPC3):c.*737T>C	GIPC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2648996	NM_133261.3(GIPC3):c.*677C>T	GIPC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2648995	NM_133261.3(GIPC3):c.*377C>T	GIPC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2571026	NM_133261.3(GIPC3):c.*563G>T	GIPC3 (M505I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2554246	NM_133261.3(GIPC3):c.533G>A (p.Arg178Gln)	GIPC3 (R178Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509994	NM_133261.3(GIPC3):c.907G>A (p.Ala303Thr)	GIPC3 (R307H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2502750	NM_133261.3(GIPC3):c.821C>G (p.Ala274Gly)	GIPC3 (A274G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501920	NM_133261.3(GIPC3):c.899T>C (p.Val300Ala)	GIPC3 (V300A)	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2463836	NM_133261.3(GIPC3):c.914G>A (p.Gly305Asp)	GIPC3 (G305D)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2445494	NC_000019.9:g.(?_1206913)_(3771740_?)dup	ABHD17A, ADAMTSL5 +80 more	Duplication	not provided	GUncertain significance
Select item 2430704	NM_133261.3(GIPC3):c.712G>C (p.Glu238Gln)	GIPC3 (E238Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	ABCA7, ABHD17A +151 more	Duplication	not provided	GUncertain significance
Select item 2423589	NC_000019.9:g.(?_3585596)_(3607681_?)dup	GIPC3, TBXA2R	Duplication	not provided	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 2420288	NM_133261.3(GIPC3):c.98C>T (p.Ala33Val)	GIPC3 (A33V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2414024	NM_133261.3(GIPC3):c.822G>A (p.Ala274=)	GIPC3 (E279K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2359495	NM_133261.3(GIPC3):c.916G>A (p.Glu306Lys)	GIPC3 (E306K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2324254	NM_133261.3(GIPC3):c.373A>G (p.Thr125Ala)	GIPC3 (T125A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297760	NM_133261.3(GIPC3):c.176G>T (p.Arg59Leu)	GIPC3 (R59L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2193438	NM_133261.3(GIPC3):c.780C>T (p.Pro260=)	GIPC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2191557	NM_133261.3(GIPC3):c.731C>A (p.Ser244Tyr)	GIPC3 (S244Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2182898	NM_133261.3(GIPC3):c.706-9T>G	GIPC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2138186	NM_133261.3(GIPC3):c.58C>T (p.Pro20Ser)	GIPC3 (P20S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2076741	NM_133261.3(GIPC3):c.147G>A (p.Thr49=)	GIPC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2066723	NM_133261.3(GIPC3):c.781G>A (p.Glu261Lys)	GIPC3 (E261K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2057470	NM_133261.3(GIPC3):c.566G>A (p.Arg189His)	GIPC3 (R189H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2045102	NM_133261.3(GIPC3):c.138G>C (p.Gly46=)	GIPC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1994847	NM_133261.3(GIPC3):c.854C>T (p.Ser285Phe)	GIPC3 (S285F)	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1993116	NM_133261.3(GIPC3):c.827C>T (p.Ala276Val)	GIPC3 (A276V)	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1979286	NM_133261.3(GIPC3):c.885G>A (p.Glu295=)	GIPC3 (V300I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1963281	NM_133261.3(GIPC3):c.354A>C (p.Thr118=)	GIPC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1935078	NM_133261.3(GIPC3):c.94C>G (p.Arg32Gly)	GIPC3 (R32G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1914527	NM_133261.3(GIPC3):c.174C>T (p.Val58=)	GIPC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1912553	NM_133261.3(GIPC3):c.843C>T (p.Arg281=)	GIPC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1906379	NM_133261.3(GIPC3):c.14C>A (p.Ala5Glu)	GIPC3 (A5E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1711963	NM_133261.3(GIPC3):c.281G>T (p.Gly94Val)	GIPC3 (G94V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1704974	NM_133261.3(GIPC3):c.172G>A (p.Val58Ile)	GIPC3 (V58I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1701349	NM_133261.3(GIPC3):c.*533T>C	GIPC3	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1699593	NM_133261.3(GIPC3):c.723G>C (p.Glu241Asp)	GIPC3 (E241D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1691609	NM_133261.3(GIPC3):c.667C>T (p.Arg223Trp)	GIPC3 (R223W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1691164	NM_133261.3(GIPC3):c.772C>T (p.Arg258Trp)	GIPC3 (R258W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1683945	NM_133261.3(GIPC3):c.411+25G>A	GIPC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1674413	NM_133261.3(GIPC3):c.226-14_226-12del	GIPC3	Deletion (intron variant)	not provided	GLikely benign
Select item 1661839	NM_133261.3(GIPC3):c.225+13G>A	GIPC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1563551	NM_133261.3(GIPC3):c.226-11C>T	GIPC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1553731	NM_133261.3(GIPC3):c.411+4C>T	GIPC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1540174	NM_133261.3(GIPC3):c.879C>T (p.Pro293=)	GIPC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1517484	NM_133261.3(GIPC3):c.920C>T (p.Ala307Val)	GIPC3 (A307V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1452886	NM_133261.3(GIPC3):c.121_122del (p.Thr41fs)	GIPC3 (T41fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1444939	NM_133261.3(GIPC3):c.739G>A (p.Val247Ile)	GIPC3 (V247I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1435297	NM_133261.3(GIPC3):c.908C>T (p.Ala303Val)	GIPC3 (A303V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1416796	NM_133261.3(GIPC3):c.788-7C>T	GIPC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1372991	NM_133261.3(GIPC3):c.79C>T (p.Pro27Ser)	GIPC3 (P27S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1368047	NM_133261.3(GIPC3):c.94C>T (p.Arg32Cys)	GIPC3 (R32C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1366803	NM_133261.3(GIPC3):c.701A>C (p.Glu234Ala)	GIPC3 (E234A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1344946	NM_133261.3(GIPC3):c.613C>T (p.Arg205Trp)	GIPC3 (R205W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1340547	GRCh37/hg19 19p13.3(chr19:3501624-5357124)x1	ANKRD24, APBA3 +46 more	Copy number loss	not provided	GPathogenic
Select item 1331262	NM_133261.3(GIPC3):c.226-12T>C	GIPC3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1331104	NM_133261.3(GIPC3):c.913G>A (p.Gly305Ser)	GIPC3 (G305S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1321694	NM_133261.3(GIPC3):c.*15del	GIPC3	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 1314224	NM_133261.3(GIPC3):c.679G>T (p.Gly227Trp)	GIPC3 (G227W)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1311608	NM_133261.3(GIPC3):c.279G>A (p.Gly93=)	GIPC3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1306815	NM_133261.3(GIPC3):c.494T>C (p.Ile165Thr)	GIPC3 (I165T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306338	NM_133261.3(GIPC3):c.764T>G (p.Met255Arg)	GIPC3 (M255R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306048	NM_133261.3(GIPC3):c.592G>A (p.Asp198Asn)	GIPC3 (D198N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303537	NM_133261.3(GIPC3):c.241C>T (p.Leu81Phe)	GIPC3 (L81F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1301799	NM_133261.3(GIPC3):c.680G>A (p.Gly227Glu)	GIPC3 (G227E)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 15 +1 more	GUncertain significance
Select item 1283804	NM_133261.3(GIPC3):c.787+31G>T	GIPC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279434	NM_133261.3(GIPC3):c.592+277TTTG[9]	GIPC3	Microsatellite (intron variant)	not provided	GBenign
Select item 1277840	NM_133261.3(GIPC3):c.705+116T>C	GIPC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275214	NM_133261.3(GIPC3):c.592+255G>A	GIPC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272022	NM_133261.3(GIPC3):c.225+126C>T	GIPC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265645	NM_133261.3(GIPC3):c.593-102G>A	GIPC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264459	NC_000019.10:g.3585336C>T	GIPC3	Single nucleotide variant	not provided	GBenign
Select item 1257961	NM_133261.3(GIPC3):c.706-61G>A	GIPC3	Single nucleotide variant (intron variant)	not provided	GBenign

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