29411[HGNC] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 152

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +786 more	Copy number gain	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 57612	GRCh38/hg38 12q24.31-24.33(chr12:122985202-130714574)x1	AACS, ATP6V0A2 +292 more	Copy number loss	See cases	GPathogenic
Select item 57448	GRCh38/hg38 12q24.31-24.33(chr12:123444758-133191400)x3	AACS, ADGRD1 +412 more	Copy number gain	See cases	GPathogenic
Select item 146222	GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3	AACS, ADGRD1 +408 more	Copy number gain	See cases	GPathogenic
Select item 59847	GRCh38/hg38 12q24.32-24.33(chr12:126403612-133166920)x3	ADGRD1, ADGRD1-AS1 +266 more	Copy number gain	See cases	GPathogenic
Select item 147998	GRCh38/hg38 12q24.32-24.33(chr12:127900499-129778294)x3	GLT1D1, LINC00507 +43 more	Copy number gain	See cases	GUncertain significance
Select item 151149	GRCh38/hg38 12q24.32-24.33(chr12:128487318-129325819)x3	GLT1D1, LOC100128276 +30 more	Copy number gain	See cases	GUncertain significance
Select item 150016	GRCh38/hg38 12q24.32-24.33(chr12:128510404-129187569)x4	GLT1D1, LOC100128276 +28 more	Copy number gain	See cases	GUncertain significance
Select item 3326777	NM_133448.3(TMEM132D):c.3288T>G (p.His1096Gln)	TMEM132D (H1096Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328729	NM_133448.3(TMEM132D):c.3287A>G (p.His1096Arg)	TMEM132D (H1096R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2348642	NM_133448.3(TMEM132D):c.3274A>G (p.Met1092Val)	TMEM132D (M1092V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049441	NM_133448.3(TMEM132D):c.3258A>G (p.Lys1086=)	TMEM132D	Single nucleotide variant (synonymous variant)	TMEM132D-related disorder	GLikely benign
Select item 739691	NM_133448.3(TMEM132D):c.3255C>T (p.Cys1085=)	TMEM132D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 690380	NM_133448.3(TMEM132D):c.3247G>A (p.Gly1083Arg)	TMEM132D (G1083R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2258524	NM_133448.3(TMEM132D):c.3226G>T (p.Val1076Phe)	TMEM132D (V1076F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617801	NM_133448.3(TMEM132D):c.3217A>G (p.Ile1073Val)	TMEM132D (I1073V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473119	NM_133448.3(TMEM132D):c.3208G>A (p.Glu1070Lys)	TMEM132D (E1070K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545852	NM_133448.3(TMEM132D):c.3196G>A (p.Val1066Met)	TMEM132D (V1066M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773268	NM_133448.3(TMEM132D):c.3183C>T (p.Thr1061=)	TMEM132D	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3040259	NM_133448.3(TMEM132D):c.3171C>T (p.Asp1057=)	TMEM132D	Single nucleotide variant (synonymous variant)	TMEM132D-related disorder	GBenign
Select item 2346386	NM_133448.3(TMEM132D):c.3154G>A (p.Ala1052Thr)	TMEM132D (A1052T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2481104	NM_133448.3(TMEM132D):c.3115A>G (p.Thr1039Ala)	TMEM132D (T1039A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047275	NM_133448.3(TMEM132D):c.3003A>G (p.Lys1001=)	TMEM132D	Single nucleotide variant (synonymous variant)	TMEM132D-related disorder	GLikely benign
Select item 3178754	NM_133448.3(TMEM132D):c.2959C>G (p.Gln987Glu)	TMEM132D (Q987E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596956	NM_133448.3(TMEM132D):c.2753T>C (p.Ile918Thr)	TMEM132D (I918T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390125	NM_133448.3(TMEM132D):c.2675T>A (p.Val892Glu)	TMEM132D (V892E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219326	NM_133448.3(TMEM132D):c.2660G>A (p.Ser887Asn)	TMEM132D (S887N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056991	NM_133448.3(TMEM132D):c.2657C>A (p.Thr886Asn)	TMEM132D (T886N)	Single nucleotide variant (missense variant)	TMEM132D-related disorder	GBenign
Select item 3178752	NM_133448.3(TMEM132D):c.2638A>T (p.Thr880Ser)	TMEM132D (T880S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059245	NM_133448.3(TMEM132D):c.2634G>T (p.Leu878Phe)	TMEM132D (L878F)	Single nucleotide variant (missense variant)	TMEM132D-related disorder	GBenign
Select item 2537340	NM_133448.3(TMEM132D):c.2610C>G (p.Ser870Arg)	TMEM132D (S870R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178751	NM_133448.3(TMEM132D):c.2545C>T (p.Leu849Phe)	TMEM132D (L849F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326775	NM_133448.3(TMEM132D):c.2540T>C (p.Met847Thr)	TMEM132D (M847T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778670	NM_133448.3(TMEM132D):c.2492C>T (p.Ser831Leu)	TMEM132D (S831L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2378035	NM_133448.3(TMEM132D):c.2489C>T (p.Pro830Leu)	TMEM132D (P830L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345131	NM_133448.3(TMEM132D):c.2477G>A (p.Arg826Lys)	TMEM132D (R826K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541169	NM_133448.3(TMEM132D):c.2462A>G (p.Asn821Ser)	TMEM132D (N821S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178750	NM_133448.3(TMEM132D):c.2419A>G (p.Ser807Gly)	TMEM132D (S807G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058382	NM_133448.3(TMEM132D):c.2385T>C (p.Val795=)	TMEM132D	Single nucleotide variant (synonymous variant)	TMEM132D-related disorder	GLikely benign
Select item 2285183	NM_133448.3(TMEM132D):c.2323G>A (p.Glu775Lys)	TMEM132D (E775K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059176	NM_133448.3(TMEM132D):c.2299G>A (p.Val767Ile)	TMEM132D (V767I)	Single nucleotide variant (missense variant)	TMEM132D-related disorder	GBenign
Select item 3061009	NM_133448.3(TMEM132D):c.2163G>A (p.Thr721=)	TMEM132D	Single nucleotide variant (synonymous variant)	TMEM132D-related disorder	GBenign
Select item 2284619	NM_133448.3(TMEM132D):c.2092G>A (p.Glu698Lys)	TMEM132D (E698K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178748	NM_133448.3(TMEM132D):c.1979A>G (p.Asp660Gly)	TMEM132D (D660G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468769	NM_133448.3(TMEM132D):c.1879G>A (p.Gly627Arg)	TMEM132D (G627R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589071	NM_133448.3(TMEM132D):c.1841T>C (p.Met614Thr)	TMEM132D (M614T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365784	NM_133448.3(TMEM132D):c.1775G>A (p.Gly592Glu)	TMEM132D (G592E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178747	NM_133448.3(TMEM132D):c.1765G>A (p.Gly589Ser)	TMEM132D (G589S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307295	NM_133448.3(TMEM132D):c.1729G>C (p.Val577Leu)	TMEM132D (V577L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404794	NM_133448.3(TMEM132D):c.1720C>T (p.His574Tyr)	TMEM132D (H574Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178746	NM_133448.3(TMEM132D):c.1676A>C (p.Glu559Ala)	TMEM132D (E559A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493114	NM_133448.3(TMEM132D):c.1672G>A (p.Glu558Lys)	TMEM132D (E558K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774330	NM_133448.3(TMEM132D):c.1661A>G (p.Asp554Gly)	TMEM132D (D554G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3052548	NM_133448.3(TMEM132D):c.1656C>T (p.Ala552=)	TMEM132D	Single nucleotide variant (synonymous variant)	TMEM132D-related disorder	GLikely benign
Select item 2493113	NM_133448.3(TMEM132D):c.1630C>T (p.Pro544Ser)	TMEM132D (P544S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313414	NM_133448.3(TMEM132D):c.1628T>C (p.Val543Ala)	TMEM132D (V543A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052317	NM_133448.3(TMEM132D):c.1599C>T (p.Thr533=)	TMEM132D	Single nucleotide variant (synonymous variant)	TMEM132D-related disorder	GLikely benign
Select item 3052931	NM_133448.3(TMEM132D):c.1584C>T (p.Ile528=)	TMEM132D	Single nucleotide variant (synonymous variant)	TMEM132D-related disorder	GLikely benign
Select item 3178744	NM_133448.3(TMEM132D):c.1568G>A (p.Arg523Gln)	TMEM132D (R523Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247510	NM_133448.3(TMEM132D):c.1567C>T (p.Arg523Trp)	TMEM132D (R523W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510613	NM_133448.3(TMEM132D):c.1523A>C (p.Tyr508Ser)	TMEM132D (Y508S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058493	NM_133448.3(TMEM132D):c.1506G>A (p.Val502=)	TMEM132D	Single nucleotide variant (synonymous variant)	TMEM132D-related disorder	GLikely benign
Select item 2247865	NM_133448.3(TMEM132D):c.1504G>A (p.Val502Met)	TMEM132D (V502M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589103	NM_133448.3(TMEM132D):c.1465G>A (p.Val489Ile)	TMEM132D (V489I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298989	NM_133448.3(TMEM132D):c.1450G>C (p.Asp484His)	TMEM132D (D484H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034662	NM_133448.3(TMEM132D):c.1443+6T>C	TMEM132D, TMEM132D-AS2	Single nucleotide variant (intron variant)	TMEM132D-related disorder	GLikely benign
Select item 2590359	NM_133448.3(TMEM132D):c.1435G>A (p.Val479Met)	TMEM132D, TMEM132D-AS2 (V479M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715033	NM_133448.3(TMEM132D):c.1434C>T (p.Asp478=)	TMEM132D, TMEM132D-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2510888	NM_133448.3(TMEM132D):c.1400T>C (p.Leu467Pro)	TMEM132D, TMEM132D-AS2 (L467P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2407047	NM_133448.3(TMEM132D):c.1381G>A (p.Gly461Ser)	TMEM132D, TMEM132D-AS2 (G461S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3040955	NM_133448.3(TMEM132D):c.1353G>A (p.Pro451=)	TMEM132D, TMEM132D-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	TMEM132D-related disorder	GLikely benign
Select item 3178742	NM_133448.3(TMEM132D):c.1331C>T (p.Thr444Met)	TMEM132D, TMEM132D-AS2 (T444M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 787103	NM_133448.3(TMEM132D):c.1302G>A (p.Glu434=)	TMEM132D, TMEM132D-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 153212	GRCh38/hg38 12q24.33(chr12:129318948-130000929)x3	LOC126861687, LOC126861688 +5 more	Copy number gain	See cases	GUncertain significance
Select item 161005	GRCh38/hg38 12q24.33(chr12:129325762-129943507)x3	LOC126861687, LOC126861688 +4 more	Copy number gain	See cases	GBenign
Select item 32384	GRCh38/hg38 12q24.33(chr12:129325762-129943507)x3	LOC126861687, LOC126861688 +4 more	Copy number gain	See cases	GUncertain significance
Select item 2248614	NM_133448.3(TMEM132D):c.1285G>T (p.Val429Leu)	TMEM132D (V429L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178741	NM_133448.3(TMEM132D):c.1277T>C (p.Ile426Thr)	TMEM132D (I426T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178740	NM_133448.3(TMEM132D):c.1229C>T (p.Thr410Met)	TMEM132D (T410M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178739	NM_133448.3(TMEM132D):c.1224G>C (p.Glu408Asp)	TMEM132D (E408D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3178738	NM_133448.3(TMEM132D):c.1190A>C (p.Gln397Pro)	TMEM132D (Q397P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466207	NM_133448.3(TMEM132D):c.1174G>A (p.Asp392Asn)	TMEM132D (D392N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178737	NM_133448.3(TMEM132D):c.1166A>G (p.Glu389Gly)	TMEM132D (E389G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326772	NM_133448.3(TMEM132D):c.1141A>G (p.Met381Val)	TMEM132D (M381V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178735	NM_133448.3(TMEM132D):c.1124G>A (p.Gly375Asp)	TMEM132D (G375D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308776	NM_133448.3(TMEM132D):c.1120G>A (p.Asp374Asn)	TMEM132D (D374N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 148025	GRCh38/hg38 12q24.33(chr12:129475355-129675925)x1	LOC126861687, TMEM132D	Copy number loss	See cases	GUncertain significance
Select item 2300859	NM_133448.3(TMEM132D):c.1102G>A (p.Gly368Ser)	TMEM132D (G368S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672534	NM_133448.3(TMEM132D):c.1099G>C (p.Ala367Pro)	TMEM132D (A367P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3058252	NM_133448.3(TMEM132D):c.1047G>A (p.Thr349=)	TMEM132D	Single nucleotide variant (synonymous variant)	TMEM132D-related disorder	GLikely benign
Select item 2238780	NM_133448.3(TMEM132D):c.1046C>A (p.Thr349Lys)	TMEM132D (T349K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512452	NM_133448.3(TMEM132D):c.1042C>T (p.Arg348Cys)	TMEM132D (R348C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472004	NM_133448.3(TMEM132D):c.1007G>A (p.Arg336Gln)	TMEM132D (R336Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050738	NM_133448.3(TMEM132D):c.999C>T (p.Ile333=)	TMEM132D	Single nucleotide variant (synonymous variant)	TMEM132D-related disorder	GLikely benign
Select item 1691119	NM_133448.3(TMEM132D):c.969-61346A>G	TMEM132D	Single nucleotide variant (intron variant)	Vascular endothelial growth factor (VEGF) inhibitor response	Gassociation
Select item 2608971	NM_133448.3(TMEM132D):c.962C>A (p.Thr321Lys)	TMEM132D (T321K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 2