ClinVar for Gene (Select 84233) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 188

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3364858	NM_032273.4(TMEM126A):c.52T>C (p.Ser18Pro)	TMEM126A (S18P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3326691	NM_032273.4(TMEM126A):c.449G>A (p.Arg150Lys)	TMEM126A (R80K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326690	NM_032273.4(TMEM126A):c.437G>A (p.Ser146Asn)	TMEM126A (S146N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3178532	NM_032273.4(TMEM126A):c.389C>T (p.Ala130Val)	TMEM126A (A130V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3005391	NM_032273.4(TMEM126A):c.108G>A (p.Ser36=)	TMEM126A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2856232	NM_032273.4(TMEM126A):c.395+11A>C	TMEM126A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2821778	NM_032273.4(TMEM126A):c.396-18C>A	TMEM126A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2775543	NM_032273.4(TMEM126A):c.216A>G (p.Ala72=)	TMEM126A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2756686	NM_032273.4(TMEM126A):c.396-8del	TMEM126A	Deletion (intron variant)	not provided	GBenign
Select item 2693868	NM_032273.4(TMEM126A):c.333T>C (p.Leu111=)	TMEM126A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2443431	NM_032273.4(TMEM126A):c.352C>T (p.Pro118Ser)	TMEM126A (P118S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2427028	NC_000011.9:g.(?_85339652)_(85367545_?)dup	TMEM126A, TMEM126B	Duplication	not provided	GUncertain significance
Select item 2427027	NC_000011.9:g.(?_85339652)_(86666127_?)del	CCDC81, CCDC83 +11 more	Deletion	not provided	GPathogenic
Select item 2319101	NM_032273.4(TMEM126A):c.136T>C (p.Cys46Arg)	TMEM126A (C46R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2131724	NM_032273.4(TMEM126A):c.233C>A (p.Thr78Lys)	TMEM126A (T8K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2130404	NM_032273.4(TMEM126A):c.116T>C (p.Val39Ala)	TMEM126A (V39A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2125513	NM_032273.4(TMEM126A):c.53C>A (p.Ser18Tyr)	TMEM126A (S18Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2125013	NM_032273.4(TMEM126A):c.421A>C (p.Lys141Gln)	TMEM126A (K141Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2112438	NM_032273.4(TMEM126A):c.278C>T (p.Thr93Ile)	TMEM126A (T23I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2111606	NM_032273.4(TMEM126A):c.188C>T (p.Ala63Val)	TMEM126A (A63V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2104342	NM_032273.4(TMEM126A):c.382G>A (p.Gly128Ser)	TMEM126A (G128S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2095487	NM_032273.4(TMEM126A):c.258dup (p.Val87fs)	TMEM126A (V17fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2055601	NM_032273.4(TMEM126A):c.87-19T>A	TMEM126A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2054264	NM_032273.4(TMEM126A):c.550G>C (p.Ala184Pro)	TMEM126A (A114P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2052883	NM_032273.4(TMEM126A):c.581T>C (p.Ile194Thr)	TMEM126A (I124T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2048347	NM_032273.4(TMEM126A):c.67C>G (p.Gln23Glu)	TMEM126A (Q23E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2034037	NM_032273.4(TMEM126A):c.395+11A>G	TMEM126A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2023527	NM_032273.4(TMEM126A):c.281-7_281-6del	TMEM126A	Deletion (intron variant)	not provided	GLikely benign
Select item 1994507	NM_032273.4(TMEM126A):c.90T>A (p.Asn30Lys)	TMEM126A (N30K)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1981161	NM_032273.4(TMEM126A):c.488T>C (p.Ile163Thr)	TMEM126A (I163T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1970892	NM_032273.4(TMEM126A):c.45T>A (p.Val15=)	TMEM126A	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1967953	NM_032273.4(TMEM126A):c.573C>A (p.Gly191=)	TMEM126A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1961049	NM_032273.4(TMEM126A):c.293G>C (p.Cys98Ser)	TMEM126A (C28S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1958750	NM_032273.4(TMEM126A):c.444G>T (p.Trp148Cys)	TMEM126A (W148C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1957104	NM_032273.4(TMEM126A):c.405_409del (p.Ala136fs)	TMEM126A (A66fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1948677	NM_032273.4(TMEM126A):c.545T>C (p.Ile182Thr)	TMEM126A (I112T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1948482	NM_032273.4(TMEM126A):c.260dup (p.Ser88fs)	TMEM126A (S88fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1942302	NM_032273.4(TMEM126A):c.280+17T>C	TMEM126A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1940391	NM_032273.4(TMEM126A):c.351C>T (p.Tyr117=)	TMEM126A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1934855	NM_032273.4(TMEM126A):c.396-4dup	TMEM126A	Duplication (intron variant)	not provided	GLikely benign
Select item 1923328	NM_032273.4(TMEM126A):c.259G>T (p.Val87Leu)	TMEM126A (V17L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1920105	NM_032273.4(TMEM126A):c.502_503del (p.Met168fs)	TMEM126A (M98fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1914204	NM_032273.4(TMEM126A):c.166C>T (p.Arg56Cys)	TMEM126A (R56C)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1913440	NM_032273.4(TMEM126A):c.87-14T>A	TMEM126A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1809349	GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1	AMOTL1, ANGPTL5 +93 more	Copy number loss	not provided	GPathogenic
Select item 1808656	GRCh37/hg19 11q14.1-14.3(chr11:80562738-88663067)x1	ANKRD42, CCDC81 +23 more	Copy number loss	not provided	GPathogenic
Select item 1715629	NM_032273.4(TMEM126A):c.256T>C (p.Phe86Leu)	TMEM126A (F16L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712219	NM_032273.4(TMEM126A):c.329G>C (p.Gly110Ala)	TMEM126A (G110A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1692999	NM_032273.4(TMEM126A):c.329G>A (p.Gly110Asp)	TMEM126A (G110D +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive optic atrophy, OPA7 type	GUncertain significance
Select item 1674279	NM_032273.4(TMEM126A):c.240C>T (p.Asp80=)	TMEM126A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1661278	NM_032273.4(TMEM126A):c.281-19T>C	TMEM126A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1659016	NM_032273.4(TMEM126A):c.315G>C (p.Arg105=)	TMEM126A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1648982	NM_032273.4(TMEM126A):c.195A>T (p.Ile65=)	TMEM126A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1647071	NM_032273.4(TMEM126A):c.552C>T (p.Ala184=)	TMEM126A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1644462	NM_032273.4(TMEM126A):c.395+9_395+10delinsCG	TMEM126A	Indel (intron variant)	not provided	GLikely benign
Select item 1640967	NM_032273.4(TMEM126A):c.87-17T>A	TMEM126A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1637085	NM_032273.4(TMEM126A):c.172T>C (p.Leu58=)	TMEM126A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1626430	NM_032273.4(TMEM126A):c.281-13A>C	TMEM126A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1608942	NM_032273.4(TMEM126A):c.281-12T>C	TMEM126A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1567399	NM_032273.4(TMEM126A):c.286T>C (p.Leu96=)	TMEM126A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1559348	NM_032273.4(TMEM126A):c.281-6dup	TMEM126A	Duplication (intron variant)	not provided	GLikely benign
Select item 1535602	NM_032273.4(TMEM126A):c.280+12T>C	TMEM126A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1529677	NM_032273.4(TMEM126A):c.87-19T>G	TMEM126A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1527657	GRCh37/hg19 11q14.1-14.2(chr11:85324893-85757693)	CCDC83, CCDC89 +6 more	Copy number loss	not specified	GUncertain significance
Select item 1527656	GRCh37/hg19 11q14.1-21(chr11:84924674-93574799)	C11orf54, CCDC81 +39 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527655	GRCh37/hg19 11q14.1-21(chr11:80318996-96116221)	AMOTL1, ANKRD42 +66 more	Copy number loss	not specified	GPathogenic
Select item 1527654	GRCh37/hg19 11q14.1-22.1(chr11:77855209-98002445)	AMOTL1, ANKRD42 +72 more	Copy number loss	not specified	GPathogenic
Select item 1524332	NM_032273.4(TMEM126A):c.73C>G (p.Pro25Ala)	TMEM126A (P25A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1522589	NM_032273.4(TMEM126A):c.239A>C (p.Asp80Ala)	TMEM126A (D10A +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1508126	NM_032273.4(TMEM126A):c.128C>A (p.Ala43Asp)	TMEM126A (A43D)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1495443	NM_032273.4(TMEM126A):c.418_421del (p.His140fs)	TMEM126A (H140fs +1 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 1494580	NM_032273.4(TMEM126A):c.164G>A (p.Arg55Gln)	TMEM126A (R55Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1493360	NM_032273.4(TMEM126A):c.461C>T (p.Pro154Leu)	TMEM126A (P84L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1492074	NM_032273.4(TMEM126A):c.13A>G (p.Lys5Glu)	TMEM126A (K5E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1490935	NM_032273.4(TMEM126A):c.167G>A (p.Arg56His)	TMEM126A (R56H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1485202	NM_032273.4(TMEM126A):c.106T>C (p.Ser36Pro)	TMEM126A (S36P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1483235	NM_032273.4(TMEM126A):c.493C>G (p.Leu165Val)	TMEM126A (L165V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1474268	NM_032273.4(TMEM126A):c.492G>C (p.Leu164Phe)	TMEM126A (L164F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1470435	NM_032273.4(TMEM126A):c.328G>A (p.Gly110Ser)	TMEM126A (G40S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1461550	NM_032273.4(TMEM126A):c.253T>C (p.Cys85Arg)	TMEM126A (C85R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1438763	NM_032273.4(TMEM126A):c.43G>A (p.Val15Ile)	TMEM126A (V15I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1437553	NM_032273.4(TMEM126A):c.350A>T (p.Tyr117Phe)	TMEM126A (Y47F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1431004	NM_032273.4(TMEM126A):c.361T>G (p.Leu121Val)	TMEM126A (L51V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1408253	NM_032273.4(TMEM126A):c.279A>G (p.Thr93=)	TMEM126A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1407225	NM_032273.4(TMEM126A):c.194T>C (p.Ile65Thr)	TMEM126A (I65T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1389109	NM_032273.4(TMEM126A):c.337A>G (p.Ile113Val)	TMEM126A (I43V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1383553	NM_032273.4(TMEM126A):c.161T>A (p.Phe54Tyr)	TMEM126A (F54Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1382842	NM_032273.4(TMEM126A):c.535_537del (p.Lys179del)	TMEM126A (K179del +1 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1351891	NM_032273.4(TMEM126A):c.410T>C (p.Leu137Pro)	TMEM126A (L67P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1292287	NM_032273.4(TMEM126A):c.-8+121A>G	LOC130006551, TMEM126A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242990	NC_000011.10:g.85656658C>T	TMEM126A	Single nucleotide variant	not provided	GBenign
Select item 1229383	NM_032273.4(TMEM126A):c.396-64C>T	TMEM126A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224280	NM_032273.4(TMEM126A):c.-8+80A>C	LOC130006551, TMEM126A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204780	NM_032273.4(TMEM126A):c.281-260G>A	TMEM126A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196013	NC_000011.10:g.85656581A>G	TMEM126A	Single nucleotide variant	not provided	GLikely benign
Select item 1160335	NM_032273.4(TMEM126A):c.86+13_86+15del	TMEM126A	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1149297	NM_032273.4(TMEM126A):c.87-9C>T	TMEM126A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1132763	NM_032273.4(TMEM126A):c.280+8C>A	TMEM126A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1120887	NM_032273.4(TMEM126A):c.306C>G (p.Thr102=)	TMEM126A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

<< First< Prev

Page of 2