ClinVar for Gene (Select 4358) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3356472	NM_002437.5(MPV17):c.70+8T>C	MPV17	Single nucleotide variant (intron variant)	MPV17-related disorder	GLikely benign
Select item 3348851	NM_002437.5(MPV17):c.71-3T>C	MPV17	Single nucleotide variant (intron variant)	MPV17-related disorder	GLikely benign
Select item 3251866	NM_002437.5(MPV17):c.264G>T (p.Lys88Asn)	MPV17 (K88N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247508	NC_000002.11:g.(?_27535860)_(27539162_?)del	MPV17	Deletion	not provided	GPathogenic
Select item 3239746	NM_002437.5(MPV17):c.58del (p.Val20fs)	MPV17 (V20fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease, axonal, type 2EE	GLikely pathogenic
Select item 3239745	NM_002437.5(MPV17):c.296_297del (p.Cys99fs)	MPV17 (C99fs)	Microsatellite (frameshift variant)	Charcot-Marie-Tooth disease, axonal, type 2EE	GLikely pathogenic
Select item 3239744	NM_002437.5(MPV17):c.459C>G (p.Tyr153Ter)	MPV17 (Y153*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease, axonal, type 2EE	GLikely pathogenic
Select item 3235053	NM_002437.5(MPV17):c.265A>T (p.Met89Leu)	MPV17 (M89L)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	GUncertain significance
Select item 3203490	NM_002437.5(MPV17):c.440A>G (p.Tyr147Cys)	MPV17 (Y147C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3063945	NC_000002.11:g.(27535977_27545314)_(27545965_?)del	MPV17	Deletion	Mitochondrial DNA depletion syndrome	GPathogenic
Select item 3054799	NM_002437.5(MPV17):c.409-3C>T	MPV17	Single nucleotide variant (intron variant)	MPV17-related disorder	GLikely benign
Select item 3051627	NM_002437.5(MPV17):c.468C>G (p.Ala156=)	MPV17	Single nucleotide variant (synonymous variant)	MPV17-related disorder	GLikely benign
Select item 3047100	NM_002437.5(MPV17):c.*9C>T	MPV17	Single nucleotide variant (3 prime UTR variant)	MPV17-related disorder	GLikely benign
Select item 3029159	NM_002437.5(MPV17):c.280-6C>A	MPV17	Single nucleotide variant (intron variant)	MPV17-related disorder	GLikely benign
Select item 3024360	NM_002437.5(MPV17):c.503A>G (p.Tyr168Cys)	MPV17 (Y168C)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	GLikely pathogenic
Select item 3014737	NM_002437.5(MPV17):c.376-19T>C	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989403	NM_002437.5(MPV17):c.280-14T>A	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988464	NM_002437.5(MPV17):c.71-4A>T	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986830	NM_002437.5(MPV17):c.310T>A (p.Phe104Ile)	MPV17 (F104I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985747	NM_002437.5(MPV17):c.462-14T>C	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985253	NM_002437.5(MPV17):c.22del (p.Gln8fs)	LOC129933372, MPV17 (Q8fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2981998	NM_002437.5(MPV17):c.71-15G>A	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971495	NM_002437.5(MPV17):c.363C>T (p.Ala121=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966533	NM_002437.5(MPV17):c.411A>G (p.Leu137=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965977	NM_002437.5(MPV17):c.63G>A (p.Leu21=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955132	NM_002437.5(MPV17):c.454C>T (p.His152Tyr)	MPV17 (H152Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2918948	NM_002437.5(MPV17):c.70+13C>T	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2918792	NM_002437.5(MPV17):c.186+11C>A	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2915295	NM_002437.5(MPV17):c.186+17A>G	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2907130	NM_002437.5(MPV17):c.376-12C>T	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2906245	NM_002437.5(MPV17):c.70+13C>G	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2899102	NM_002437.5(MPV17):c.280-11C>A	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2897837	NM_002437.5(MPV17):c.327G>A (p.Gly109=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888969	NM_002437.5(MPV17):c.293C>A (p.Pro98Gln)	MPV17 (P98Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2880254	NM_002437.5(MPV17):c.375+13G>A	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876107	NM_002437.5(MPV17):c.36C>T (p.Ala12=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871115	NM_002437.5(MPV17):c.280-9C>T	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2864843	NM_002437.5(MPV17):c.423G>A (p.Val141=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2864274	NM_002437.5(MPV17):c.423G>T (p.Val141=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2859396	NM_002437.5(MPV17):c.187-17C>T	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2842864	NM_002437.5(MPV17):c.280-9C>G	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2836240	NM_002437.5(MPV17):c.409-15C>T	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2832851	NM_002437.5(MPV17):c.408+15C>G	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2826624	NM_002437.5(MPV17):c.186+12C>A	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2820774	NM_002437.5(MPV17):c.280-4C>T	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2816783	NM_002437.5(MPV17):c.405C>T (p.Tyr135=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2814542	NM_002437.5(MPV17):c.462-18G>A	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2812985	NM_002437.5(MPV17):c.360G>A (p.Trp120Ter)	MPV17 (W120*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2811652	NM_002437.5(MPV17):c.76C>T (p.Leu26=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2807315	NM_002437.5(MPV17):c.27G>A (p.Arg9=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2801236	NM_002437.5(MPV17):c.189C>A (p.Gly63=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2796341	NM_002437.5(MPV17):c.435C>T (p.Asn145=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2795369	NM_002437.5(MPV17):c.462-18_462-17del	MPV17	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2794388	NM_002437.5(MPV17):c.507G>C (p.Leu169=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2787086	NM_002437.5(MPV17):c.375+19G>A	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2777744	NM_002437.5(MPV17):c.376-16T>G	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2767283	NM_002437.5(MPV17):c.24G>A (p.Gln8=)	LOC129933372, MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2765226	NM_002437.5(MPV17):c.123G>A (p.Arg41=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2762950	NM_002437.5(MPV17):c.71-20C>T	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2759967	NM_002437.5(MPV17):c.270_274del (p.Leu91fs)	MPV17 (L91fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2754305	NM_002437.5(MPV17):c.461+15T>C	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2749746	NM_002437.5(MPV17):c.264G>C (p.Lys88Asn)	MPV17 (K88N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2748655	NM_002437.5(MPV17):c.75C>T (p.Ser25=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2747493	NM_002437.5(MPV17):c.169C>T (p.Leu57=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2743813	NM_002437.5(MPV17):c.70+1G>A	MPV17	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2741518	NM_002437.5(MPV17):c.279+11G>C	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2733180	NM_002437.5(MPV17):c.282G>A (p.Gly94=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2732753	NM_002437.5(MPV17):c.187-12G>T	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2730789	NM_002437.5(MPV17):c.187-19A>G	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2726169	NM_002437.5(MPV17):c.280-2A>G	MPV17	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2725770	NM_002437.5(MPV17):c.259A>T (p.Lys87Ter)	MPV17 (K87*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2725259	NM_002437.5(MPV17):c.280-20C>G	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2719107	NM_002437.5(MPV17):c.278_279+24del	MPV17	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 2710314	NM_002437.5(MPV17):c.136dup (p.His46fs)	MPV17 (H46fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2708297	NM_002437.5(MPV17):c.84C>A (p.Gly28=)	MPV17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2707801	NM_002437.5(MPV17):c.376-18C>T	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2703095	NM_002437.5(MPV17):c.186+13C>T	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2702232	NM_002437.5(MPV17):c.48G>A (p.Trp16Ter)	MPV17 (W16*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2699973	NM_002437.5(MPV17):c.70+17G>A	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2694058	NM_002437.5(MPV17):c.280-6C>T	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2681195	NM_002437.5(MPV17):c.[122G>A];[71-2A>G]			Charcot-Marie-Tooth disease, axonal, type 2EE	GLikely pathogenic
Select item 2676677	NM_002437.5(MPV17):c.461+1G>T	MPV17	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease, axonal, type 2EE	GLikely pathogenic
Select item 2676676	NM_002437.5(MPV17):c.101C>G (p.Ser34Ter)	MPV17 (S34*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2676675	NM_002437.5(MPV17):c.354dup (p.Asn119fs)	MPV17 (N119fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease, axonal, type 2EE	GLikely pathogenic
Select item 2676674	NM_002437.5(MPV17):c.462-2A>C	MPV17	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth disease, axonal, type 2EE	GLikely pathogenic
Select item 2676673	NM_002437.5(MPV17):c.328_332del (p.Gly109_Ala110insTer)	MPV17	Deletion (nonsense)	Charcot-Marie-Tooth disease, axonal, type 2EE	GLikely pathogenic
Select item 2676672	NM_002437.5(MPV17):c.408T>A (p.Tyr136Ter)	MPV17 (Y136*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease, axonal, type 2EE	GPathogenic
Select item 2676671	NM_002437.5(MPV17):c.280-2del	MPV17	Deletion (splice acceptor variant)	Charcot-Marie-Tooth disease, axonal, type 2EE	GLikely pathogenic
Select item 2672805	NM_002437.5(MPV17):c.462-18_*60del	MPV17	Deletion (splice acceptor variant)	not provided	GPathogenic
Select item 2650765	NM_002437.5(MPV17):c.461+261T>G	MPV17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2581455	NM_002437.5(MPV17):c.70+5G>A	MPV17	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2578847	NM_002437.5(MPV17):c.37G>C (p.Ala13Pro)	MPV17 (A13P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2526295	NM_002437.5(MPV17):c.106C>A (p.Gln36Lys)	MPV17 (Q36K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2433791	NM_002437.5(MPV17):c.1A>G (p.Met1Val)	LOC129933372, MPV17 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2430184	NM_002437.5(MPV17):c.210C>A (p.Tyr70Ter)	MPV17, UCN (Y70*)	Single nucleotide variant (nonsense)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) +1 more	GPathogenic
Select item 2428434	NM_002437.5(MPV17):c.235G>C (p.Gly79Arg)	MPV17 (G79R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2427541	NC_000002.11:g.(?_24443763)_(29022169_?)dup	ABHD1, ADCY3 +65 more	Duplication	not provided	GUncertain significance
Select item 2425074	NC_000002.11:g.(?_24443763)_(30143525_?)dup	ADGRF3, AGBL5 +72 more	Duplication	not provided	GUncertain significance
Select item 2424434	NC_000002.11:g.(?_27532770)_(27535986_?)del	MPV17	Deletion	not provided	GPathogenic

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