TMEM126A[Gene Name] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	CHORDC1, GDPD4 +474 more	Copy number loss	See cases	GPathogenic
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	LINC02553, LINC02700 +528 more	Copy number loss	See cases	GPathogenic
Select item 59771	GRCh38/hg38 11q14.1-14.2(chr11:78362208-86165380)x3	ANKRD42, ANKRD42-DT +117 more	Copy number gain	See cases	GPathogenic
Select item 150919	GRCh38/hg38 11q14.1-14.2(chr11:84765986-86641166)x3	CCDC81, CCDC83 +50 more	Copy number gain	See cases	GUncertain significance
Select item 144652	GRCh38/hg38 11q14.1-14.2(chr11:84828513-86641208)x3	CCDC81, CCDC83 +50 more	Copy number gain	See cases	GUncertain significance
Select item 160941	GRCh38/hg38 11q14.1-14.2(chr11:84828563-86641166)x3	CCDC81, CCDC83 +50 more	Copy number gain	See cases	GUncertain significance
Select item 33851	GRCh38/hg38 11q14.1-14.2(chr11:84828563-86641166)x3	CCDC81, CCDC83 +50 more	Copy number gain	See cases	GUncertain significance
Select item 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 306318	NM_032273.3(TMEM126A):c.-142C>T	TMEM126A, LOC130006551	Single nucleotide variant	Optic Atrophy, Recessive	GUncertain significance
Select item 306319	NM_032273.3(TMEM126A):c.-139C>T	LOC130006551, TMEM126A	Single nucleotide variant	Optic Atrophy, Recessive	GUncertain significance
Select item 883047	NM_032273.4(TMEM126A):c.-98C>G	LOC130006551, TMEM126A	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive optic atrophy, OPA7 type	GUncertain significance
Select item 306320	NM_032273.4(TMEM126A):c.-69T>A	LOC130006551, TMEM126A	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive optic atrophy, OPA7 type +1 more	GBenign
Select item 215269	NM_032273.4(TMEM126A):c.-46_-45insACCG	LOC130006551, TMEM126A	Insertion (5 prime UTR variant)	not provided +1 more	GBenign
Select item 306322	NM_032273.4(TMEM126A):c.-16G>C	LOC130006551, TMEM126A	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive optic atrophy, OPA7 type	GUncertain significance
Select item 508409	NM_032273.4(TMEM126A):c.-12A>G	LOC130006551, TMEM126A	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 513170	NM_032273.4(TMEM126A):c.-8+20G>C	LOC130006551, TMEM126A	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1224280	NM_032273.4(TMEM126A):c.-8+80A>C	LOC130006551, TMEM126A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292287	NM_032273.4(TMEM126A):c.-8+121A>G	LOC130006551, TMEM126A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 510859	NM_032273.4(TMEM126A):c.-7-21_-7-19del	TMEM126A	Deletion (intron variant)	not specified	GLikely benign
Select item 514614	NM_032273.4(TMEM126A):c.-7-4del	TMEM126A	Deletion (intron variant)	not specified	GLikely benign
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 841685	NM_032273.4(TMEM126A):c.21TAA[1] (p.Asn8del)	TMEM126A (N8del)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1058366	NM_032273.4(TMEM126A):c.20A>T (p.Asn7Ile)	TMEM126A (N7I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 883048	NM_032273.4(TMEM126A):c.20A>G (p.Asn7Ser)	TMEM126A (N7S)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive optic atrophy, OPA7 type +1 more	GUncertain significance
Select item 1003643	NM_032273.4(TMEM126A):c.36A>G (p.Ile12Met)	TMEM126A (I12M)	Single nucleotide variant (missense variant +1 more)	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 1970892	NM_032273.4(TMEM126A):c.45T>A (p.Val15=)	TMEM126A	Single nucleotide variant (synonymous 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 382130	NM_032273.4(TMEM126A):c.54C>T (p.Ser18=)	TMEM126A	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1050336	NM_032273.4(TMEM126A):c.62T>G (p.Ile21Ser)	TMEM126A (I21S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1108170	NM_032273.4(TMEM126A):c.63T>C (p.Ile21=)	TMEM126A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1090553	NM_032273.4(TMEM126A):c.69G>A (p.Gln23=)	TMEM126A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1042234	NM_032273.4(TMEM126A):c.80C>G (p.Ala27Gly)	TMEM126A (A27G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 444268	NM_032273.4(TMEM126A):c.86+2T>C	TMEM126A	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 1160335	NM_032273.4(TMEM126A):c.86+13_86+15del	TMEM126A	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2055601	NM_032273.4(TMEM126A):c.87-19T>A	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 389516	NM_032273.4(TMEM126A):c.87-19T>C	TMEM126A	Single nucleotide variant (intron variant)	not specified +1 more	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 1913440	NM_032273.4(TMEM126A):c.87-14T>A	TMEM126A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1149297	NM_032273.4(TMEM126A):c.87-9C>T	TMEM126A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1067483	NM_032273.4(TMEM126A):c.87-2A>C	TMEM126A	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 196566	NM_032273.4(TMEM126A):c.87G>C (p.Arg29Ser)	TMEM126A (R29S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
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 137669	NM_032273.4(TMEM126A):c.96T>G (p.Leu32=)	TMEM126A	Single nucleotide variant (5 prime UTR variant +1 more)	TMEM126A-related condition +3 more	GConflicting classifications of pathogenicity
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 493100	NM_032273.4(TMEM126A):c.107C>T (p.Ser36Leu)	TMEM126A (S36L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	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 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 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 2319101	NM_032273.4(TMEM126A):c.136T>C (p.Cys46Arg)	TMEM126A (C46R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1044360	NM_032273.4(TMEM126A):c.154dup (p.Ser52fs)	TMEM126A (S52fs)	Duplication (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 196565	NM_032273.4(TMEM126A):c.154A>G (p.Ser52Gly)	TMEM126A (S52G)	Single nucleotide variant (5 prime UTR variant +1 more)	TMEM126A-related condition +3 more	GBenign/Likely benign
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 410	NM_032273.4(TMEM126A):c.163C>T (p.Arg55Ter)	TMEM126A (R55*)	Single nucleotide variant (5 prime UTR variant +1 more)	TMEM126A-related condition +2 more	GPathogenic
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 1914204	NM_032273.4(TMEM126A):c.166C>T (p.Arg56Cys)	TMEM126A (R56C)	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 (missense variant +1 more)	not provided	GUncertain significance
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 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 559245	NM_032273.4(TMEM126A):c.190C>T (p.Arg64Cys)	TMEM126A (R64C)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 137670	NM_032273.4(TMEM126A):c.191G>A (p.Arg64His)	TMEM126A (R64H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 948050	NM_032273.4(TMEM126A):c.193A>G (p.Ile65Val)	TMEM126A (I65V)	Single nucleotide variant (5 prime UTR variant +1 more)	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 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 2775543	NM_032273.4(TMEM126A):c.216A>G (p.Ala72=)	TMEM126A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 966249	NM_032273.4(TMEM126A):c.233C>G (p.Thr78Arg)	TMEM126A (T78R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 381823	NM_032273.4(TMEM126A):c.234A>G (p.Thr78=)	TMEM126A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1522589	NM_032273.4(TMEM126A):c.239A>C (p.Asp80Ala)	TMEM126A (D10A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 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 2095487	NM_032273.4(TMEM126A):c.258dup (p.Val87fs)	TMEM126A (V17fs +1 more)	Duplication (frameshift variant)	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 1948482	NM_032273.4(TMEM126A):c.260dup (p.Ser88fs)	TMEM126A (S88fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
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 853557	NM_032273.4(TMEM126A):c.259G>A (p.Val87Ile)	TMEM126A (V17I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 382441	NM_032273.4(TMEM126A):c.271T>C (p.Leu91=)	TMEM126A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1408253	NM_032273.4(TMEM126A):c.279A>G (p.Thr93=)	TMEM126A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1132763	NM_032273.4(TMEM126A):c.280+8C>A	TMEM126A	Single nucleotide variant (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 215270	NM_032273.4(TMEM126A):c.280+14C>T	TMEM126A	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1942302	NM_032273.4(TMEM126A):c.280+17T>C	TMEM126A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673313	NM_032273.4(TMEM126A):c.280+203T>C	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 676442	NM_032273.4(TMEM126A):c.281-122C>G	TMEM126A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1661278	NM_032273.4(TMEM126A):c.281-19T>C	TMEM126A	Single nucleotide variant (intron variant)	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 1083301	NM_032273.4(TMEM126A):c.281-10T>G	TMEM126A	Single nucleotide variant (intron 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 2023527	NM_032273.4(TMEM126A):c.281-7_281-6del	TMEM126A	Deletion (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 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 1050978	NM_032273.4(TMEM126A):c.299C>A (p.Thr100Asn)	TMEM126A (T100N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1120887	NM_032273.4(TMEM126A):c.306C>G (p.Thr102=)	TMEM126A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 839400	NM_032273.4(TMEM126A):c.313C>T (p.Arg105Trp)	TMEM126A (R35W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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