ClinVar for Gene (Select 79152) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3256815	NM_024306.5(FA2H):c.786+661A>G	FA2H	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3256800	NM_024306.5(FA2H):c.271-3993C>T	FA2H	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3243658	NC_000016.9:g.(?_74485954)_(74808653_?)dup	FA2H, GLG1 +2 more	Duplication	not provided	GUncertain significance
Select item 3091501	NM_024306.5(FA2H):c.880G>A (p.Glu294Lys)	FA2H (E294K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091500	NM_024306.5(FA2H):c.635A>C (p.Lys212Thr)	FA2H (K212T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091498	NM_024306.5(FA2H):c.1033A>C (p.Lys345Gln)	FA2H (K345Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3069165	NM_024306.5(FA2H):c.1023T>A (p.Phe341Leu)	FA2H (F341L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 3069164	NM_024306.5(FA2H):c.380G>T (p.Arg127Leu)	FA2H (R127L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 3068766	NM_024306.5(FA2H):c.566G>A (p.Arg189Gln)	FA2H (R189Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065108	NM_024306.5(FA2H):c.688G>A (p.Glu230Lys)	FA2H (E230K)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 35	GConflicting classifications of pathogenicity
Select item 3063404	GRCh37/hg19 16q22.3-23.1(chr16:74079694-75352818)x1	BCAR1, CFDP1 +13 more	Copy number loss	not specified	GPathogenic
Select item 3052549	NM_024306.5(FA2H):c.966G>A (p.Ser322=)	FA2H	Single nucleotide variant (synonymous variant)	FA2H-related disorder	GLikely benign
Select item 3040848	NM_024306.5(FA2H):c.-1C>A	FA2H, LOC130059394	Single nucleotide variant (5 prime UTR variant)	FA2H-related disorder	GLikely benign
Select item 2999145	NM_024306.5(FA2H):c.786+8G>T	FA2H	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2912395	NM_024306.5(FA2H):c.342C>T (p.Phe114=)	FA2H	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2907496	NM_024306.5(FA2H):c.503_506del (p.Val168fs)	FA2H (V168fs)	Deletion (frameshift variant)	Spastic paraplegia	GPathogenic
Select item 2887655	NM_024306.5(FA2H):c.367C>T (p.Leu123=)	FA2H	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2874079	NM_024306.5(FA2H):c.270+18C>T	FA2H, LOC130059393	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2873411	NM_024306.5(FA2H):c.162_171dup (p.Ile58fs)	FA2H, LOC130059394 (I58fs)	Duplication (frameshift variant)	Spastic paraplegia	GPathogenic
Select item 2853431	NM_024306.5(FA2H):c.969G>T (p.Pro323=)	FA2H	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2852550	NM_024306.5(FA2H):c.363+17G>A	FA2H	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2848315	NM_024306.5(FA2H):c.791C>T (p.Pro264Leu)	FA2H (P264L)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2814346	NM_024306.5(FA2H):c.1039+18C>T	FA2H	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2780414	NM_024306.5(FA2H):c.977G>T (p.Gly326Val)	FA2H (G326V)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2773057	NM_024306.5(FA2H):c.858G>A (p.Leu286=)	FA2H	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2765287	NM_024306.5(FA2H):c.159G>A (p.Arg53=)	LOC130059394, FA2H	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2752102	NM_024306.5(FA2H):c.364-9C>T	FA2H	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2738791	NM_024306.5(FA2H):c.447G>T (p.Val149=)	FA2H	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2721814	NM_024306.5(FA2H):c.786+11C>T	FA2H	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2715494	NM_024306.5(FA2H):c.865C>T (p.Gln289Ter)	FA2H (Q289*)	Single nucleotide variant (nonsense)	Spastic paraplegia	GPathogenic
Select item 2712050	NM_024306.5(FA2H):c.843C>T (p.Ile281=)	FA2H	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2704536	NM_024306.5(FA2H):c.786+16T>G	FA2H	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2698790	NM_024306.5(FA2H):c.45G>A (p.Glu15=)	FA2H, LOC130059394	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2689038	NM_024306.5(FA2H):c.817C>T (p.Pro273Ser)	FA2H (P273S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 2684816	GRCh37/hg19 16q23.1(chr16:74741456-75085898)x3	FA2H, WDR59 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2684813	GRCh37/hg19 16q22.1-23.2(chr16:70607067-81561138)x3	ADAMTS18, ADAT1 +67 more	Copy number gain	not provided	GPathogenic
Select item 2683375	NM_024306.5(FA2H):c.613+5T>C	FA2H	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2683374	NM_024306.5(FA2H):c.722A>C (p.Lys241Thr)	FA2H (K241T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2671835	NM_024306.5(FA2H):c.363+2T>C	FA2H	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 35	GLikely pathogenic
Select item 2646864	NM_024306.5(FA2H):c.726C>A (p.Pro242=)	FA2H	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646863	NM_024306.5(FA2H):c.786+694_786+695del	FA2H	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2637704	NM_024306.5(FA2H):c.911dup (p.Leu305fs)	FA2H (L305fs)	Duplication (frameshift variant)	Hereditary spastic paraplegia 35	GPathogenic
Select item 2627591	NM_024306.5(FA2H):c.659T>A (p.Met220Lys)	FA2H (M220K)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 2627474	NM_024306.5(FA2H):c.201C>G (p.His67Gln)	FA2H, LOC130059394 (H67Q)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 2612874	NM_024306.5(FA2H):c.126C>G (p.His42Gln)	FA2H, LOC130059394 (H42Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2585059	NM_024306.5(FA2H):c.716A>C (p.His239Pro)	FA2H (H239P)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 2584376	NM_024306.5(FA2H):c.910G>T (p.Gly304Cys)	FA2H (G304C)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 35	GLikely pathogenic
Select item 2580908	NM_024306.5(FA2H):c.271-106C>T	FA2H	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 2530488	NM_024306.5(FA2H):c.824T>A (p.Val275Glu)	FA2H (V275E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2505161	NC_000016.10:g.74773969_74776493del	FA2H, LOC130059393 +3 more	Deletion	Hereditary spastic paraplegia 35	GLikely pathogenic
Select item 2500182	NM_024306.5(FA2H):c.785A>C (p.Lys262Thr)	FA2H (K262T)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 35	GLikely pathogenic
Select item 2426812	NC_000016.9:g.(?_74485954)_(75339100_?)dup	BCAR1, CFDP1 +10 more	Duplication	Spastic paraplegia	GUncertain significance
Select item 2426811	NC_000016.9:g.(?_74808364)_(74808653_?)del	FA2H	Deletion	Spastic paraplegia	GPathogenic
Select item 2421319	NM_024306.5(FA2H):c.790C>T (p.Pro264Ser)	FA2H (P264S)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2420316	NM_024306.5(FA2H):c.675C>T (p.Leu225=)	FA2H	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2414003	NM_024306.5(FA2H):c.1039+11G>A	FA2H	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2413398	NM_024306.5(FA2H):c.709C>G (p.Leu237Val)	FA2H (L237V)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2335073	NM_024306.5(FA2H):c.622G>T (p.Val208Leu)	FA2H (V208L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2327215	NM_024306.5(FA2H):c.376T>G (p.Trp126Gly)	FA2H (W126G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292915	NM_024306.5(FA2H):c.134G>C (p.Gly45Ala)	FA2H, LOC130059394 (G45A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286743	NM_024306.5(FA2H):c.363+5C>A	FA2H	Single nucleotide variant (intron variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 2269473	NM_024306.5(FA2H):c.178G>A (p.Ala60Thr)	FA2H, LOC130059394 (A60T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229081	NM_024306.5(FA2H):c.586G>A (p.Val196Ile)	FA2H (V196I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2196131	NM_024306.5(FA2H):c.648C>G (p.Pro216=)	FA2H	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2195858	NM_024306.5(FA2H):c.939G>T (p.Met313Ile)	FA2H (M313I)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2194147	NM_024306.5(FA2H):c.117C>G (p.Phe39Leu)	FA2H, LOC130059394 (F39L)	Single nucleotide variant (missense variant)	Spastic paraplegia	GPathogenic
Select item 2191061	NM_024306.5(FA2H):c.803C>T (p.Ser268Phe)	FA2H (S268F)	Single nucleotide variant (missense variant)	Spastic paraplegia	GLikely benign
Select item 2189404	NM_024306.5(FA2H):c.921C>T (p.Gly307=)	FA2H	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GBenign
Select item 2185693	NM_024306.5(FA2H):c.820C>A (p.Pro274Thr)	FA2H (P274T)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2184208	NM_024306.5(FA2H):c.38C>T (p.Pro13Leu)	FA2H, LOC130059394 (P13L)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2175300	NM_024306.5(FA2H):c.10G>T (p.Ala4Ser)	LOC130059394, FA2H (A4S)	Single nucleotide variant (missense variant)	Spastic paraplegia	GBenign
Select item 2164021	NM_024306.5(FA2H):c.36G>T (p.Ser12=)	FA2H, LOC130059394	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2161624	NM_024306.5(FA2H):c.1040-18G>A	FA2H	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2160667	NM_024306.5(FA2H):c.820C>G (p.Pro274Ala)	FA2H (P274A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2153744	NM_024306.5(FA2H):c.244G>C (p.Val82Leu)	FA2H (V82L)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2153721	NM_024306.5(FA2H):c.77G>C (p.Trp26Ser)	FA2H, LOC130059394 (W26S)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2151829	NM_024306.5(FA2H):c.1040-5T>G	FA2H	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2149614	NM_024306.5(FA2H):c.888del (p.Gly298fs)	FA2H (G298fs)	Deletion (frameshift variant)	Spastic paraplegia	GPathogenic
Select item 2145801	NM_024306.5(FA2H):c.970C>T (p.His324Tyr)	FA2H (H324Y)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2139071	NM_024306.5(FA2H):c.867G>C (p.Gln289His)	FA2H (Q289H)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2137845	NM_024306.5(FA2H):c.265C>T (p.Gln89Ter)	FA2H, LOC130059393 (Q89*)	Single nucleotide variant (nonsense)	Spastic paraplegia	GPathogenic
Select item 2124905	NM_024306.5(FA2H):c.682C>T (p.Leu228Phe)	FA2H (L228F)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2108527	NM_024306.5(FA2H):c.1008C>T (p.His336=)	FA2H	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2095384	NM_024306.5(FA2H):c.906G>A (p.Ala302=)	FA2H	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2085825	NM_024306.5(FA2H):c.21C>G (p.Pro7=)	FA2H, LOC130059394	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2084245	NM_024306.5(FA2H):c.271-14T>C	FA2H	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2076631	NM_024306.5(FA2H):c.621G>A (p.Thr207=)	FA2H	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2066718	NM_024306.5(FA2H):c.786+12G>A	FA2H	Single nucleotide variant (intron variant)	Spastic paraplegia	GBenign
Select item 2063151	NM_024306.5(FA2H):c.364-4G>A	FA2H	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2061753	NM_024306.5(FA2H):c.624G>A (p.Val208=)	FA2H	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2051331	NM_024306.5(FA2H):c.1039+14T>G	FA2H	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2043728	NM_024306.5(FA2H):c.448A>G (p.Thr150Ala)	FA2H (T150A)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2037073	NM_024306.5(FA2H):c.669A>C (p.Thr223=)	FA2H	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2036748	NM_024306.5(FA2H):c.1113G>A (p.Thr371=)	FA2H	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1994610	NM_024306.5(FA2H):c.506+10T>G	FA2H	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 1991506	NM_024306.5(FA2H):c.126C>A (p.His42Gln)	FA2H, LOC130059394 (H42Q)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1989785	NM_024306.5(FA2H):c.1104C>T (p.His368=)	FA2H	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1984714	NM_024306.5(FA2H):c.786+15G>A	FA2H	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 1980605	NM_024306.5(FA2H):c.363+3A>G	FA2H	Single nucleotide variant (intron variant)	Spastic paraplegia	GUncertain significance
Select item 1963059	NM_024306.5(FA2H):c.506G>A (p.Trp169Ter)	FA2H (W169*)	Single nucleotide variant (nonsense)	Spastic paraplegia	GPathogenic

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