ClinVar for Gene (Select 79147) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248428	NC_000019.9:g.(?_47257002)_(47259076_?)del	FKRP	Deletion	Walker-Warburg congenital muscular dystrophy	GPathogenic
Select item 3241631	NM_024301.5(FKRP):c.668_669del (p.Phe223fs)	FKRP (F223fs)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 3241630	NM_024301.5(FKRP):c.951C>A (p.Cys317Ter)	FKRP (C317*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 3241629	NM_024301.5(FKRP):c.74_80del (p.Ser25fs)	FKRP (S25fs)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 3241627	NM_024301.5(FKRP):c.261_271del (p.Tyr88fs)	FKRP (Y88fs)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 3241626	NM_024301.5(FKRP):c.1077G>A (p.Trp359Ter)	FKRP (W359*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 3241625	NM_024301.5(FKRP):c.761_788dup (p.Ala263_Arg264insLeuGluGlyTer)	FKRP	Duplication (nonsense +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 3241624	NM_024301.5(FKRP):c.78G>A (p.Trp26Ter)	FKRP (W26*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 3241623	NM_024301.5(FKRP):c.858G>A (p.Trp286Ter)	FKRP (W286*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 3241622	NM_024301.5(FKRP):c.163G>T (p.Glu55Ter)	FKRP (E55*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 3233605	NM_024301.5(FKRP):c.1274G>A (p.Gly425Asp)	FKRP (G425D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3227831	NM_024301.5(FKRP):c.997C>G (p.Leu333Val)	FKRP (L333V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3227830	NM_024301.5(FKRP):c.575A>G (p.Asp192Gly)	FKRP (D192G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3227829	NM_024301.5(FKRP):c.481G>A (p.Ala161Thr)	FKRP (A161T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3227828	NM_024301.5(FKRP):c.478G>C (p.Val160Leu)	FKRP (V160L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3227827	NM_024301.5(FKRP):c.284G>T (p.Arg95Leu)	FKRP (R95L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3227826	NM_024301.5(FKRP):c.1351C>T (p.Pro451Ser)	FKRP (P451S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3227825	NM_024301.5(FKRP):c.1330C>G (p.His444Asp)	FKRP (H444D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3227824	NM_024301.5(FKRP):c.1074A>G (p.Pro358=)	FKRP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3171664	NM_013403.3(STRN4):c.113C>A (p.Ala38Asp)	FKRP, STRN4 (A38D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171662	NM_013403.3(STRN4):c.103T>C (p.Ser35Pro)	FKRP, STRN4 (S35P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095356	NM_024301.5(FKRP):c.463C>G (p.Leu155Val)	FKRP (L155V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3063660	NM_024301.5(FKRP):c.1306_1307dup (p.Gln437fs)	FKRP (Q437fs)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy	GPathogenic
Select item 3062385	GRCh37/hg19 19q13.32(chr19:47185918-47435756)x3	AP2S1, ARHGAP35 +4 more	Copy number gain	not specified	GUncertain significance
Select item 3037493	NM_024301.5(FKRP):c.1431C>A (p.Val477=)	FKRP	Single nucleotide variant (synonymous variant)	FKRP-related disorder	GLikely benign
Select item 3029813	NM_013403.3(STRN4):c.282+76G>A	FKRP, LOC130064775 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	FKRP-related disorder	GLikely benign
Select item 3011574	NM_024301.5(FKRP):c.810C>T (p.Arg270=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 3003369	NM_024301.5(FKRP):c.1251G>A (p.Leu417=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 3000354	NM_024301.5(FKRP):c.828del (p.Leu276_Val277insTer)	FKRP	Deletion (frameshift variant)	Walker-Warburg congenital muscular dystrophy	GPathogenic
Select item 2987776	NM_024301.5(FKRP):c.702G>A (p.Gln234=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2982150	NM_024301.5(FKRP):c.983A>G (p.Tyr328Cys)	FKRP (Y328C)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 2976319	NM_024301.5(FKRP):c.1092C>T (p.Asp364=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2970022	NM_024301.5(FKRP):c.615C>A (p.Arg205=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2968533	NM_024301.5(FKRP):c.756C>T (p.His252=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2961270	NM_024301.5(FKRP):c.141C>A (p.Pro47=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2954979	NM_024301.5(FKRP):c.567C>G (p.Pro189=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2920245	NM_024301.5(FKRP):c.1161G>A (p.Val387=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2917369	NM_024301.5(FKRP):c.706C>T (p.Leu236=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2916966	NM_024301.5(FKRP):c.238G>A (p.Val80Met)	FKRP (V80M)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 2913953	NM_024301.5(FKRP):c.1208dup (p.Arg404fs)	FKRP (R404fs)	Duplication (frameshift variant)	Walker-Warburg congenital muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 2913257	NM_024301.5(FKRP):c.538G>T (p.Ala180Ser)	FKRP (A180S)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 2911323	NM_024301.5(FKRP):c.138C>T (p.Gly46=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2909634	NM_024301.5(FKRP):c.705G>C (p.Leu235=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2909251	NM_024301.5(FKRP):c.597G>A (p.Val199=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2909065	NM_024301.5(FKRP):c.960C>G (p.Arg320=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2909027	NM_024301.5(FKRP):c.1038A>T (p.Ser346=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2908200	NM_024301.5(FKRP):c.1107G>A (p.Leu369=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2905535	NM_024301.5(FKRP):c.1422G>T (p.Gly474=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2903184	NM_024301.5(FKRP):c.975C>G (p.Thr325=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2897872	NM_024301.5(FKRP):c.987G>A (p.Val329=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2897541	NM_024301.5(FKRP):c.1237T>C (p.Leu413=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2897540	NM_024301.5(FKRP):c.1200C>T (p.Gly400=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2897539	NM_024301.5(FKRP):c.282C>G (p.Pro94=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2884592	NM_024301.5(FKRP):c.591T>C (p.Asp197=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2884590	NM_024301.5(FKRP):c.477G>C (p.Pro159=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2884348	NM_024301.5(FKRP):c.978C>A (p.Ala326=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2883971	NM_024301.5(FKRP):c.942G>C (p.Thr314=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2883318	NM_024301.5(FKRP):c.879C>A (p.Thr293=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2881851	NM_024301.5(FKRP):c.294C>T (p.Asn98=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2881600	NM_024301.5(FKRP):c.1155G>C (p.Ser385=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2881456	NM_024301.5(FKRP):c.957G>C (p.Leu319=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2879763	NM_024301.5(FKRP):c.633G>C (p.Ser211=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2878639	NM_024301.5(FKRP):c.940A>G (p.Thr314Ala)	FKRP (T314A)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy	GLikely pathogenic
Select item 2872552	NM_024301.5(FKRP):c.741G>T (p.Pro247=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2871640	NM_024301.5(FKRP):c.1339C>T (p.Gln447Ter)	FKRP (Q447*)	Single nucleotide variant (nonsense)	Walker-Warburg congenital muscular dystrophy	GPathogenic
Select item 2866073	NM_024301.5(FKRP):c.1275C>T (p.Gly425=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2865722	NM_024301.5(FKRP):c.696G>A (p.Ala232=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2865107	NM_024301.5(FKRP):c.1155G>T (p.Ser385=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2862510	NM_024301.5(FKRP):c.777C>G (p.Arg259=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2862286	NM_024301.5(FKRP):c.390T>G (p.Pro130=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2861669	NM_024301.5(FKRP):c.857G>A (p.Trp286Ter)	FKRP (W286*)	Single nucleotide variant (nonsense)	Walker-Warburg congenital muscular dystrophy	GPathogenic
Select item 2857371	NM_024301.5(FKRP):c.295del (p.Val99fs)	FKRP (V99fs)	Deletion (frameshift variant)	Walker-Warburg congenital muscular dystrophy	GPathogenic
Select item 2855010	NM_024301.5(FKRP):c.1179A>C (p.Val393=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2854026	NM_024301.5(FKRP):c.1429del (p.Val477fs)	FKRP (V477fs)	Deletion (frameshift variant)	Walker-Warburg congenital muscular dystrophy	GPathogenic
Select item 2853636	NM_024301.5(FKRP):c.261del (p.Tyr88fs)	FKRP (Y88fs)	Deletion (frameshift variant)	Walker-Warburg congenital muscular dystrophy	GPathogenic
Select item 2851183	NM_024301.5(FKRP):c.615C>G (p.Arg205=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2851049	NM_024301.5(FKRP):c.624C>T (p.Phe208=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2846957	NM_024301.5(FKRP):c.666C>G (p.Leu222=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2846568	NM_024301.5(FKRP):c.228C>A (p.Ala76=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2846107	NM_024301.5(FKRP):c.267G>T (p.Pro89=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2841876	NM_024301.5(FKRP):c.75G>C (p.Ser25=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2840711	NM_024301.5(FKRP):c.699G>T (p.Val233=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2840365	NM_024301.5(FKRP):c.216G>A (p.Gln72=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2838682	NM_024301.5(FKRP):c.1016G>C (p.Arg339Pro)	FKRP (R339P)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy	GLikely pathogenic
Select item 2837289	NM_024301.5(FKRP):c.81_82delinsTT (p.Gln28Ter)	FKRP (Q28*)	Indel (nonsense)	Walker-Warburg congenital muscular dystrophy	GPathogenic
Select item 2836790	NM_024301.5(FKRP):c.950G>A (p.Cys317Tyr)	FKRP (C317Y)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 2832414	NM_024301.5(FKRP):c.240G>A (p.Val80=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2830769	NM_024301.5(FKRP):c.60C>A (p.Val20=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2829350	NM_024301.5(FKRP):c.717C>G (p.Thr239=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2828799	NM_024301.5(FKRP):c.178_199del (p.Phe59_Asp60insTer)	FKRP	Deletion (nonsense)	Walker-Warburg congenital muscular dystrophy	GPathogenic
Select item 2821446	NM_024301.5(FKRP):c.1428G>T (p.Gly476=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2821275	NM_024301.5(FKRP):c.27C>T (p.Ala9=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2815755	NM_024301.5(FKRP):c.1125C>A (p.Cys375Ter)	FKRP (C375*)	Single nucleotide variant (nonsense)	Walker-Warburg congenital muscular dystrophy	GPathogenic
Select item 2812768	NM_024301.5(FKRP):c.1443C>G (p.Pro481=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2810382	NM_024301.5(FKRP):c.1221C>T (p.Tyr407=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2809697	NM_024301.5(FKRP):c.587G>T (p.Gly196Val)	FKRP (G196V)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy	GLikely pathogenic
Select item 2809617	NM_024301.5(FKRP):c.1361T>C (p.Phe454Ser)	FKRP (F454S)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 2808921	NM_024301.5(FKRP):c.638C>T (p.Pro213Leu)	FKRP (P213L)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 2802781	NM_024301.5(FKRP):c.1215G>T (p.Val405=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 2771000	NM_024301.5(FKRP):c.813G>C (p.Ala271=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign

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