TMEM94[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 1383934	NM_014738.6(TMEM94):c.58C>T (p.Arg20Trp)	TMEM94 (R20W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 1800904	NM_014738.6(TMEM94):c.137C>T (p.Thr46Met)	TMEM94 (T46M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3034903	NM_014738.6(TMEM94):c.144+10C>T	TMEM94	Single nucleotide variant (intron variant)	TMEM94-related disorder	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 2223089	NM_014738.6(TMEM94):c.229G>A (p.Val77Met)	TMEM94 (V77M +1 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 2343861	NM_014738.6(TMEM94):c.253G>A (p.Gly85Arg)	TMEM94 (G95R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GBenign
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 3045329	NM_014738.6(TMEM94):c.272+6C>T	TMEM94	Single nucleotide variant (intron variant)	TMEM94-related disorder	GLikely benign
Select item 2470120	NM_014738.6(TMEM94):c.275G>A (p.Arg92His)	TMEM94 (R92H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2375629	NM_014738.6(TMEM94):c.275G>T (p.Arg92Leu)	TMEM94 (R102L +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 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 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 2441731	NM_014738.6(TMEM94):c.352C>T (p.Arg118Trp)	TMEM94 (R118W +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with cardiac defects and dysmorphic facies +2 more	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 2383287	NM_014738.6(TMEM94):c.365G>T (p.Arg122Leu)	TMEM94 (R132L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 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 3251058	NM_014738.6(TMEM94):c.459A>G (p.Pro153=)	TMEM94	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 817873	NM_014738.6(TMEM94):c.495_496dup (p.His166fs)	TMEM94 (H166fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1177446	NM_014738.6(TMEM94):c.606dup (p.Ile203fs)	TMEM94 (I203fs +1 more)	Duplication (frameshift variant)	Intellectual developmental disorder with cardiac defects and dysmorphic facies	GPathogenic
Select item 3233484	NM_014738.6(TMEM94):c.613-6C>T	TMEM94	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1298724	NM_014738.6(TMEM94):c.618C>T (p.Asp206=)	TMEM94	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2225023	NM_014738.6(TMEM94):c.619G>A (p.Glu207Lys)	TMEM94 (E217K +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 1180648	NM_014738.6(TMEM94):c.683dup (p.Glu229fs)	TMEM94 (E229fs +1 more)	Duplication (frameshift variant)	Abnormality of the nervous system	GLikely pathogenic
Select item 2304170	NM_014738.6(TMEM94):c.680G>C (p.Arg227Pro)	TMEM94 (R237P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370449	NM_014738.6(TMEM94):c.730C>T (p.Arg244Cys)	TMEM94 (R244C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 598744	NM_014738.6(TMEM94):c.765-1G>C	TMEM94	Single nucleotide variant (splice acceptor variant)	TMEM94-related disorder	GPathogenic
Select item 1027888	NM_014738.6(TMEM94):c.771C>G (p.Cys257Trp)	TMEM94 (C267W +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with cardiac defects and dysmorphic facies	GUncertain significance
Select item 2331936	NM_014738.6(TMEM94):c.776A>G (p.Asp259Gly)	TMEM94 (D259G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 617668	NM_014738.6(TMEM94):c.810del (p.Asp270fs)	TMEM94 (D270fs +1 more)	Deletion (frameshift variant)	Intellectual developmental disorder with cardiac defects and dysmorphic facies	GLikely pathogenic
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 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 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 2648253	NM_014738.6(TMEM94):c.892C>T (p.Leu298=)	TMEM94	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2235205	NM_014738.6(TMEM94):c.926C>T (p.Ser309Phe)	TMEM94 (S309F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 161682	NM_014738.6(TMEM94):c.953A>G (p.Gln318Arg)	TMEM94 (Q318R +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	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 2279779	NM_014738.6(TMEM94):c.1030C>T (p.Arg344Cys)	TMEM94 (R344C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216425	NM_014738.6(TMEM94):c.1054G>T (p.Ala352Ser)	TMEM94 (A362S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1031300	NM_014738.6(TMEM94):c.1066_1067delinsAA (p.Ser356Asn)	TMEM94 (S356N +1 more)	Indel (missense variant)	Intellectual developmental disorder with cardiac defects and dysmorphic facies	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 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 3043543	NM_014738.6(TMEM94):c.1128+4C>A	TMEM94	Single nucleotide variant (intron variant)	TMEM94-related disorder	GLikely benign
Select item 1197154	NM_014738.6(TMEM94):c.1136T>C (p.Leu379Pro)	TMEM94 (L379P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2290772	NM_014738.6(TMEM94):c.1166T>G (p.Val389Gly)	TMEM94 (V399G +1 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 2648254	NM_014738.6(TMEM94):c.1182G>A (p.Ser394=)	TMEM94	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 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 3349506	NM_014738.6(TMEM94):c.1386+21G>A	TMEM94	Single nucleotide variant (intron variant)	TMEM94-related disorder	GLikely benign
Select item 2243363	NM_014738.6(TMEM94):c.1388C>T (p.Pro463Leu)	TMEM94 (P473L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 768916	NM_014738.6(TMEM94):c.1445A>G (p.Asn482Ser)	TMEM94 (N486S +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2062831	NM_014738.6(TMEM94):c.1450C>T (p.Gln484Ter)	TMEM94 (Q494* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 2266116	NM_014738.6(TMEM94):c.1514C>T (p.Ala505Val)	TMEM94 (A509V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1031301	NM_014738.6(TMEM94):c.1544C>T (p.Ser515Phe)	TMEM94 (S515F +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with cardiac defects and dysmorphic facies	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 915311	NM_014738.6(TMEM94):c.1600C>T (p.Gln534Ter)	TMEM94 (Q534* +3 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with cardiac defects and dysmorphic facies	GPathogenic
Select item 2480130	NM_014738.6(TMEM94):c.1618G>A (p.Asp540Asn)	TMEM94 (D540N +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 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 2505210	NM_014738.6(TMEM94):c.1672C>T (p.Leu558=)	TMEM94	Single nucleotide variant (synonymous variant)	not provided	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 2232835	NM_014738.6(TMEM94):c.1802G>T (p.Arg601Leu)	TMEM94 (R605L +3 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 3053745	NM_014738.6(TMEM94):c.1818C>T (p.Ser606=)	TMEM94	Single nucleotide variant (synonymous variant)	TMEM94-related disorder	GLikely benign
Select item 1300063	NM_014738.6(TMEM94):c.1836C>T (p.Ile612=)	TMEM94	Single nucleotide variant (synonymous variant)	Intellectual developmental disorder with cardiac defects and dysmorphic facies +1 more	GBenign
Select item 2466596	NM_014738.6(TMEM94):c.1855A>G (p.Ser619Gly)	TMEM94 (S619G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1031302	NM_014738.6(TMEM94):c.1861G>A (p.Val621Met)	TMEM94 (V625M +3 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with cardiac defects and dysmorphic facies	GUncertain significance
Select item 2312191	NM_014738.6(TMEM94):c.1897C>T (p.Leu633Phe)	TMEM94 (L617F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1332703	NM_014738.6(TMEM94):c.1970_1974dup (p.Pro659fs)	TMEM94 (P643fs +3 more)	Duplication (frameshift variant)	Intellectual developmental disorder with cardiac defects and dysmorphic facies	GUncertain significance
Select item 2464014	NM_014738.6(TMEM94):c.2032C>T (p.Arg678Trp)	TMEM94 (R662W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268656	NM_014738.6(TMEM94):c.2033G>A (p.Arg678Gln)	TMEM94 (R682Q +3 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 1300064	NM_014738.6(TMEM94):c.2087-5C>G	TMEM94	Single nucleotide variant (intron variant)	Intellectual developmental disorder with cardiac defects and dysmorphic facies +1 more	GBenign
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 2471533	NM_014738.6(TMEM94):c.2108A>G (p.His703Arg)	TMEM94 (H703R +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 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 2278336	NM_014738.6(TMEM94):c.2208C>G (p.Phe736Leu)	TMEM94 (F740L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227854	NM_014738.6(TMEM94):c.2215C>T (p.Arg739Ter)	TMEM94 (R743* +3 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 2648255	NM_014738.6(TMEM94):c.2223C>T (p.Cys741=)	TMEM94	Single nucleotide variant (synonymous variant)	not provided	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 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 2336743	NM_014738.6(TMEM94):c.2363T>C (p.Ile788Thr)	TMEM94 (I772T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 3327225	NM_014738.6(TMEM94):c.2383C>T (p.Arg795Cys)	TMEM94 (R799C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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