ClinVar for Gene (Select 9772) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377755	NM_014738.6(TMEM94):c.2845-1G>A	TMEM94	Single nucleotide variant (splice acceptor variant)	Intellectual developmental disorder with cardiac defects and dysmorphic facies	GLikely pathogenic
Select item 3367178	NM_014738.6(TMEM94):c.888T>G (p.Asn296Lys)	TMEM94 (N296K +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with cardiac defects and dysmorphic facies	GUncertain significance
Select item 3367177	NM_014738.6(TMEM94):c.2485_2494del (p.Ser829fs)	TMEM94 (S813fs +4 more)	Deletion (frameshift variant)	Intellectual developmental disorder with cardiac defects and dysmorphic facies	GLikely pathogenic
Select item 3359372	NM_014738.6(TMEM94):c.2130dup (p.Glu711fs)	TMEM94 (E695fs +3 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3357135	NM_014738.6(TMEM94):c.3229C>T (p.Arg1077Trp)	TMEM94 (R1061W +4 more)	Single nucleotide variant (missense variant)	TMEM94-related disorder	GUncertain significance
Select item 3352237	NM_014738.6(TMEM94):c.1072-7C>T	TMEM94	Single nucleotide variant (intron variant)	TMEM94-related disorder	GLikely benign
Select item 3349506	NM_014738.6(TMEM94):c.1386+21G>A	TMEM94	Single nucleotide variant (intron variant)	TMEM94-related disorder	GLikely benign
Select item 3327236	NM_014738.6(TMEM94):c.122G>T (p.Arg41Leu)	TMEM94 (R51L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3327235	NM_014738.6(TMEM94):c.3617G>C (p.Cys1206Ser)	TMEM94 (C1190S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3327234	NM_014738.6(TMEM94):c.244G>C (p.Gly82Arg)	TMEM94 (G92R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3327233	NM_014738.6(TMEM94):c.2509A>G (p.Ile837Val)	TMEM94 (I846V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3327232	NM_014738.6(TMEM94):c.2090C>T (p.Thr697Ile)	TMEM94 (T707I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3327231	NM_014738.6(TMEM94):c.2155G>A (p.Gly719Arg)	TMEM94 (G719R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3327230	NM_014738.6(TMEM94):c.1334G>C (p.Ser445Thr)	TMEM94 (S455T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3327229	NM_014738.6(TMEM94):c.1333A>C (p.Ser445Arg)	TMEM94 (S445R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3327228	NM_014738.6(TMEM94):c.1811G>A (p.Arg604Gln)	TMEM94 (R608Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3327226	NM_014738.6(TMEM94):c.2177C>T (p.Ser726Leu)	TMEM94 (S710L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3327225	NM_014738.6(TMEM94):c.2383C>T (p.Arg795Cys)	TMEM94 (R799C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3255586	NM_014738.6(TMEM94):c.1176dup (p.Thr393fs)	TMEM94 (T393fs +1 more)	Duplication (frameshift variant)	Intellectual developmental disorder with cardiac defects and dysmorphic facies	GLikely pathogenic
Select item 3252902	NM_014738.6(TMEM94):c.1163G>A (p.Arg388Lys)	TMEM94 (R388K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251058	NM_014738.6(TMEM94):c.459A>G (p.Pro153=)	TMEM94	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3233484	NM_014738.6(TMEM94):c.613-6C>T	TMEM94	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3179757	NM_014738.6(TMEM94):c.859G>A (p.Val287Met)	TMEM94 (V287M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179756	NM_014738.6(TMEM94):c.656C>G (p.Pro219Arg)	TMEM94 (P219R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3179755	NM_014738.6(TMEM94):c.3928T>C (p.Trp1310Arg)	TMEM94 (W1310R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179754	NM_014738.6(TMEM94):c.3860A>G (p.Asp1287Gly)	TMEM94 (D1271G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179753	NM_014738.6(TMEM94):c.376C>T (p.Arg126Trp)	TMEM94 (R126W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179751	NM_014738.6(TMEM94):c.365G>C (p.Arg122Pro)	TMEM94 (R122P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179750	NM_014738.6(TMEM94):c.3538A>G (p.Ile1180Val)	TMEM94 (I1164V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179749	NM_014738.6(TMEM94):c.3260A>G (p.Tyr1087Cys)	TMEM94 (Y1071C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179748	NM_014738.6(TMEM94):c.3256A>T (p.Thr1086Ser)	TMEM94 (T1090S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179747	NM_014738.6(TMEM94):c.322C>T (p.Leu108Phe)	TMEM94 (L118F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179746	NM_014738.6(TMEM94):c.319C>T (p.Leu107Phe)	TMEM94 (L117F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179745	NM_014738.6(TMEM94):c.299C>T (p.Ser100Leu)	TMEM94 (S100L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179744	NM_014738.6(TMEM94):c.2948T>C (p.Met983Thr)	TMEM94 (M967T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179743	NM_014738.6(TMEM94):c.2863A>G (p.Ile955Val)	TMEM94 (I939V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179742	NM_014738.6(TMEM94):c.2735G>A (p.Arg912Gln)	TMEM94 (R916Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179741	NM_014738.6(TMEM94):c.268G>A (p.Gly90Arg)	TMEM94 (G100R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179740	NM_014738.6(TMEM94):c.2516G>A (p.Arg839His)	TMEM94 (R823H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179739	NM_014738.6(TMEM94):c.2471T>C (p.Met824Thr)	TMEM94 (M833T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179737	NM_014738.6(TMEM94):c.2038C>G (p.Pro680Ala)	TMEM94 (P680A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179734	NM_014738.6(TMEM94):c.1291A>G (p.Thr431Ala)	TMEM94 (T431A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179733	NM_014738.6(TMEM94):c.1217G>A (p.Ser406Asn)	TMEM94 (S406N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179732	NM_014738.6(TMEM94):c.1090G>T (p.Asp364Tyr)	TMEM94 (D364Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3075962	NM_014738.6(TMEM94):c.1256_1257del (p.Gln419fs)	TMEM94 (Q419fs +1 more)	Deletion (frameshift variant)	Intellectual developmental disorder with cardiac defects and dysmorphic facies +1 more	GPathogenic/Likely pathogenic
Select item 3068004	NM_014738.6(TMEM94):c.2840A>G (p.Asn947Ser)	TMEM94 (N931S +4 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with cardiac defects and dysmorphic facies	GUncertain significance
Select item 3063533	GRCh37/hg19 17q25.1(chr17:73281839-73568196)x1	CASKIN2, GRB2 +4 more	Copy number loss	not specified	GUncertain significance
Select item 3063507	GRCh37/hg19 17q25.1(chr17:72875847-73484159)x3	ARMC7, ATP5PD +19 more	Copy number gain	not specified	GUncertain significance
Select item 3061285	NM_014738.6(TMEM94):c.955-2A>G	TMEM94	Single nucleotide variant (splice acceptor variant)	TMEM94-related disorder	GLikely pathogenic
Select item 3056123	NM_014738.6(TMEM94):c.3978C>T (p.Ile1326=)	TMEM94	Single nucleotide variant (synonymous variant)	TMEM94-related disorder	GLikely benign
Select item 3053745	NM_014738.6(TMEM94):c.1818C>T (p.Ser606=)	TMEM94	Single nucleotide variant (synonymous variant)	TMEM94-related disorder	GLikely benign
Select item 3053707	NM_014738.6(TMEM94):c.2901C>T (p.Asn967=)	TMEM94	Single nucleotide variant (synonymous variant)	TMEM94-related disorder	GLikely benign
Select item 3053095	NM_014738.6(TMEM94):c.2772G>A (p.Glu924=)	TMEM94	Single nucleotide variant (synonymous variant)	TMEM94-related disorder	GLikely benign
Select item 3052143	NM_014738.6(TMEM94):c.2319C>T (p.Pro773=)	TMEM94	Single nucleotide variant (synonymous variant)	TMEM94-related disorder	GLikely benign
Select item 3049365	NM_014738.6(TMEM94):c.3303G>A (p.Leu1101=)	TMEM94	Single nucleotide variant (synonymous variant)	TMEM94-related disorder	GLikely benign
Select item 3048309	NM_014738.6(TMEM94):c.2979C>T (p.Tyr993=)	TMEM94	Single nucleotide variant (synonymous variant)	TMEM94-related disorder	GLikely benign
Select item 3046935	NM_014738.6(TMEM94):c.3153C>T (p.Pro1051=)	TMEM94	Single nucleotide variant (synonymous variant)	TMEM94-related disorder	GLikely benign
Select item 3046810	NM_014738.6(TMEM94):c.3366C>T (p.Thr1122=)	TMEM94	Single nucleotide variant (synonymous variant)	TMEM94-related disorder	GLikely benign
Select item 3045346	NM_014738.6(TMEM94):c.2729-5C>T	TMEM94	Single nucleotide variant (intron variant)	TMEM94-related disorder	GLikely benign
Select item 3045337	NM_014738.6(TMEM94):c.1457G>A (p.Arg486His)	TMEM94 (R486H +2 more)	Single nucleotide variant (missense variant)	TMEM94-related disorder	GLikely benign
Select item 3045329	NM_014738.6(TMEM94):c.272+6C>T	TMEM94	Single nucleotide variant (intron variant)	TMEM94-related disorder	GLikely benign
Select item 3043543	NM_014738.6(TMEM94):c.1128+4C>A	TMEM94	Single nucleotide variant (intron variant)	TMEM94-related disorder	GLikely benign
Select item 3038813	NM_014738.6(TMEM94):c.1858G>A (p.Ala620Thr)	TMEM94 (A604T +3 more)	Single nucleotide variant (missense variant)	TMEM94-related disorder	GLikely benign
Select item 3034903	NM_014738.6(TMEM94):c.144+10C>T	TMEM94	Single nucleotide variant (intron variant)	TMEM94-related disorder	GLikely benign
Select item 3025366	NM_014738.6(TMEM94):c.3912C>T (p.Asp1304=)	TMEM94	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2684856	GRCh37/hg19 17q25.1(chr17:73264158-74039659)x3	ACOX1, CASKIN2 +24 more	Copy number gain	not provided	GUncertain significance
Select item 2684855	GRCh37/hg19 17q25.1(chr17:73259444-73533226)x3	CASKIN2, GRB2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2662596	NM_014738.5(TMEM94):c.2408_2410del	TMEM94	Microsatellite (splice acceptor variant)	not provided	GUncertain significance
Select item 2648262	NM_014738.6(TMEM94):c.3837T>A (p.Gly1279=)	TMEM94	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2648261	NM_014738.6(TMEM94):c.3820C>T (p.Pro1274Ser)	TMEM94 (P1258S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648260	NM_014738.6(TMEM94):c.2928C>T (p.Thr976=)	TMEM94	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648259	NM_014738.6(TMEM94):c.2850G>A (p.Lys950=)	TMEM94	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648258	NM_014738.6(TMEM94):c.2805G>A (p.Thr935=)	TMEM94	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648257	NM_014738.6(TMEM94):c.2583A>G (p.Lys861=)	TMEM94	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648256	NM_014738.6(TMEM94):c.2384G>A (p.Arg795His)	TMEM94 (R779H +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2648255	NM_014738.6(TMEM94):c.2223C>T (p.Cys741=)	TMEM94	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648254	NM_014738.6(TMEM94):c.1182G>A (p.Ser394=)	TMEM94	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648253	NM_014738.6(TMEM94):c.892C>T (p.Leu298=)	TMEM94	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648252	NM_014738.6(TMEM94):c.204G>A (p.Pro68=)	TMEM94	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2634367	NM_014738.6(TMEM94):c.3185C>T (p.Pro1062Leu)	TMEM94 (P1046L +4 more)	Single nucleotide variant (missense variant)	TMEM94-related disorder	GUncertain significance
Select item 2634348	NM_014738.6(TMEM94):c.3197C>T (p.Thr1066Ile)	TMEM94 (T1050I +4 more)	Single nucleotide variant (missense variant)	TMEM94-related disorder	GUncertain significance
Select item 2631347	NM_014738.6(TMEM94):c.1641T>A (p.Phe547Leu)	TMEM94 (F531L +3 more)	Single nucleotide variant (missense variant)	TMEM94-related disorder	GUncertain significance
Select item 2618700	NM_014738.6(TMEM94):c.3442A>C (p.Ile1148Leu)	TMEM94 (I1157L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612584	NM_014738.6(TMEM94):c.3932T>C (p.Leu1311Pro)	TMEM94 (L1321P +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600456	NM_014738.6(TMEM94):c.1721A>G (p.Asn574Ser)	TMEM94 (N574S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592629	NM_014738.6(TMEM94):c.2380G>A (p.Ala794Thr)	TMEM94 (A778T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2578017	GRCh37/hg19 17q25.1(chr17:72718277-74142256)	ACOX1, ARMC7 +52 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 2573090	NM_014738.6(TMEM94):c.4063C>T (p.Pro1355Ser)	TMEM94 (P1339S +4 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with cardiac defects and dysmorphic facies	GUncertain significance
Select item 2571002	NM_014738.6(TMEM94):c.2368A>G (p.Ile790Val)	TMEM94 (I774V +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2558488	NM_014738.6(TMEM94):c.2676C>G (p.Ile892Met)	TMEM94 (I901M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550557	NM_014738.6(TMEM94):c.2671G>A (p.Glu891Lys)	TMEM94 (E875K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541337	NM_014738.6(TMEM94):c.487T>C (p.Trp163Arg)	TMEM94 (W163R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521749	NM_014738.6(TMEM94):c.2333T>C (p.Ile778Thr)	TMEM94 (I778T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515348	NM_014738.6(TMEM94):c.1549G>A (p.Val517Met)	TMEM94 (V527M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2505214	NM_014738.6(TMEM94):c.377G>A (p.Arg126Gln)	TMEM94 (R126Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505210	NM_014738.6(TMEM94):c.1672C>T (p.Leu558=)	TMEM94	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2499296	NM_014738.6(TMEM94):c.817C>T (p.Arg273Trp)	TMEM94 (R273W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2493434	NM_014738.6(TMEM94):c.1619A>C (p.Asp540Ala)	TMEM94 (D540A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493051	NM_014738.6(TMEM94):c.2480T>C (p.Val827Ala)	TMEM94 (V811A +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491076	NM_014738.6(TMEM94):c.2698G>A (p.Ala900Thr)	TMEM94 (A884T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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