220074[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 230

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58164	GRCh38/hg38 11q13.4(chr11:71164008-72309374)x3	ACTE1P, ANAPC15 +67 more	Copy number gain	See cases	GUncertain significance
Select item 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	See cases	GPathogenic
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 881721	NM_006185.4(NUMA1):c.-103+136G>A	LRTOMT, NUMA1	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 305971	NM_006185.4(NUMA1):c.-103+67G>A	LRTOMT, NUMA1	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 305972	NM_006185.4(NUMA1):c.-103+13G>T	LRTOMT, NUMA1	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 881722	NM_006185.4(NUMA1):c.-103+12G>A	LRTOMT, NUMA1	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 305973	NM_006185.4(NUMA1):c.-109C>T	LRTOMT, NUMA1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GLikely benign
Select item 881723	NM_006185.4(NUMA1):c.-127A>C	LRTOMT, NUMA1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 305974	NM_006185.4(NUMA1):c.-147T>C	LRTOMT, NUMA1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 882878	NM_006185.4(NUMA1):c.-149G>C	LRTOMT, NUMA1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 305975	NM_001145308.4(LRTOMT):c.-602G>A	LRTOMT	Single nucleotide variant	Nonsyndromic Hearing Loss, Recessive +1 more	GConflicting classifications of pathogenicity
Select item 305976	NM_001145308.4(LRTOMT):c.-554G>A	LRTOMT	Single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 305977	NM_001145308.4(LRTOMT):c.-526T>A	LRTOMT	Single nucleotide variant	Nonsyndromic Hearing Loss, Recessive	GUncertain significance
Select item 305978	NM_001145308.4(LRTOMT):c.-481G>T	LRTOMT	Single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 883667	NM_001145308.4(LRTOMT):c.-453A>G	LRTOMT	Single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 883668	NM_001145308.4(LRTOMT):c.-422T>C	LRTOMT	Single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 305979	NM_001145308.4(LRTOMT):c.-409G>A	LRTOMT	Single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 305980	NM_001145308.4(LRTOMT):c.-379T>C	LRTOMT	Single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 305981	NM_145309.6(LRRC51):c.-162G>A	LRRC51, LRTOMT	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 632173	NM_145309.6(LRRC51):c.-140+1G>T	LRTOMT, LRRC51	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 305982	NM_145309.6(LRRC51):c.-140+5G>A	LRTOMT, LRRC51	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 1246309	NM_145309.6(LRRC51):c.-139-239G>A	LRTOMT, LRRC51	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196077	NM_145309.6(LRRC51):c.-56+176C>T	LRRC51, LRTOMT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251059	NM_145309.6(LRRC51):c.-56+242A>C	LRRC51, LRTOMT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202287	NM_145309.6(LRRC51):c.-55-195A>G	LRRC51, LRTOMT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247784	NM_145309.6(LRRC51):c.-55-110T>C	LRRC51, LRTOMT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2642116	NM_145309.6(LRRC51):c.37G>A (p.Glu13Lys)	LRRC51, LRTOMT (E13K)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely benign
Select item 1344959	NM_145309.6(LRRC51):c.52T>C (p.Tyr18His)	LRTOMT, LRRC51 (Y18H)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GLikely benign
Select item 1205440	NM_145309.6(LRRC51):c.83-109A>G	LRRC51, LRTOMT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682806	NM_145309.6(LRRC51):c.83-29G>A	LRRC51, LRTOMT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 305983	NM_145309.6(LRRC51):c.99G>A (p.Glu33=)	LRTOMT, LRRC51	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 228838	NM_145309.6(LRRC51):c.115C>T (p.Arg39Ter)	LRTOMT, LRRC51 (R39* +1 more)	Single nucleotide variant (nonsense +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1305224	NM_145309.6(LRRC51):c.116G>A (p.Arg39Gln)	LRRC51, LRTOMT (R21Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 305984	NM_145309.6(LRRC51):c.148C>G (p.Leu50Val)	LRRC51, LRTOMT (L50V +1 more)	Single nucleotide variant (missense variant +2 more)	Nonsyndromic Hearing Loss, Recessive	GUncertain significance
Select item 305985	NM_145309.6(LRRC51):c.150G>T (p.Leu50=)	LRRC51, LRTOMT	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 881327	NM_145309.6(LRTOMT):c.230A>G (p.His77Arg)	LRRC51, LRTOMT (H77R +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 666628	NM_145309.6(LRTOMT):c.253G>A (p.Asp85Asn)	LRRC51, LRTOMT (D67N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GBenign
Select item 305986	NM_145309.6(LRRC51):c.255C>T (p.Asp85=)	LRRC51, LRTOMT	Single nucleotide variant (synonymous variant +2 more)	LRTOMT-related condition +3 more	GConflicting classifications of pathogenicity
Select item 305987	NM_145309.6(LRRC51):c.281T>C (p.Ile94Thr)	LRRC51, LRTOMT (I94T +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 1244194	NM_145309.6(LRRC51):c.288+19G>C	LRRC51, LRTOMT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258396	NM_145309.6(LRRC51):c.289-261GA[4]	LRRC51, LRTOMT	Microsatellite (intron variant)	not provided	GBenign
Select item 804994	NM_145309.6(LRTOMT):c.315T>C (p.Ser105=)	LRTOMT, LRRC51	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 1699172	NM_145309.6(LRRC51):c.330del (p.His110fs)	LRRC51, LRTOMT (H110fs +1 more)	Deletion (frameshift variant +2 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 1687602	NM_145309.6(LRRC51):c.340_346del (p.Ile114fs)	LRRC51, LRTOMT (I114fs +1 more)	Deletion (frameshift variant +2 more)	Autosomal recessive nonsyndromic hearing loss 63	GPathogenic
Select item 305988	NM_145309.6(LRRC51):c.347G>A (p.Arg116His)	LRRC51, LRTOMT (R116H +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 226718	NM_145309.6(LRRC51):c.352G>C (p.Gly118Arg)	LRRC51, LRTOMT (G118R +1 more)	Single nucleotide variant (missense variant +2 more)	LRTOMT-related condition +3 more	GConflicting classifications of pathogenicity
Select item 305989	NM_145309.6(LRRC51):c.388del (p.Arg130fs)	LRRC51, LRTOMT (R112fs +1 more)	Deletion (frameshift variant +2 more)	Nonsyndromic Hearing Loss, Recessive	GUncertain significance
Select item 3039178	NM_145309.6(LRRC51):c.409A>G (p.Asn137Asp)	LRRC51, LRTOMT (N119D +1 more)	Single nucleotide variant (missense variant +2 more)	LRTOMT-related condition	GLikely benign
Select item 740260	NM_145309.6(LRTOMT):c.437+8C>T	LRRC51, LRTOMT	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2972147	NM_145309.6(LRRC51):c.437+18G>A	LRRC51, LRTOMT	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1214279	NM_145309.6(LRRC51):c.464G>A (p.Arg155His)	LRRC51, LRTOMT (R137H +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely benign
Select item 3034517	NM_145309.6(LRRC51):c.468C>T (p.Ile156=)	LRRC51, LRTOMT	Single nucleotide variant (synonymous variant +3 more)	LRTOMT-related condition	GLikely benign
Select item 429950	NM_145309.6(LRRC51):c.502G>A (p.Asp168Asn)	LRRC51, LRTOMT (D150N +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1216389	NM_145309.6(LRRC51):c.528A>G (p.Lys176=)	LRRC51, LRTOMT	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 3042061	NM_145309.6(LRRC51):c.529C>T (p.Arg177Cys)	LRRC51, LRTOMT (R159C +1 more)	Single nucleotide variant (missense variant +3 more)	LRTOMT-related condition	GLikely benign
Select item 1187305	NM_145309.6(LRRC51):c.542A>C (p.Lys181Thr)	LRRC51, LRTOMT (K163T +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely benign
Select item 1186617	NM_145309.6(LRRC51):c.*22C>T	LRRC51, LRTOMT	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1208866	NM_145309.6(LRRC51):c.*37A>G	LRRC51, LRTOMT	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1230538	NM_145309.6(LRRC51):c.*170dup	LRRC51, LRTOMT	Duplication (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1228800	NM_145309.6(LRRC51):c.*170del	LRRC51, LRTOMT	Deletion (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1049568	NM_145309.6(LRRC51):c.*1201A>C	LRRC51, LRTOMT	Single nucleotide variant (3 prime UTR variant +3 more)	LRTOMT-related condition +1 more	GBenign
Select item 1215477	NM_145309.6(LRRC51):c.*1260C>T	LRRC51, LRTOMT	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1245915	NM_001145308.5(LRTOMT):c.34+1914T>C	LRTOMT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2642117	NM_017907.3(LAMTOR1):c.420C>T (p.Tyr140=)	LAMTOR1, LRTOMT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2545677	NM_017907.3(LAMTOR1):c.191A>T (p.Asn64Ile)	LAMTOR1, LRTOMT (N64I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2365472	NM_017907.3(LAMTOR1):c.116A>T (p.Asn39Ile)	LRTOMT, LAMTOR1 (N39I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2516976	NM_017907.3(LAMTOR1):c.97C>G (p.Leu33Val)	LAMTOR1, LRTOMT (L33V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2221537	NM_017907.3(LAMTOR1):c.73C>T (p.Pro25Ser)	LRTOMT, LAMTOR1 (P25S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2341365	NM_017907.3(LAMTOR1):c.56G>A (p.Arg19Gln)	LAMTOR1, LRTOMT (R19Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2296876	NM_017907.3(LAMTOR1):c.53A>C (p.Glu18Ala)	LAMTOR1, LRTOMT (E18A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1258131	NM_001145308.5(LRTOMT):c.35-44T>C	LRTOMT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2116215	NM_001145308.5(LRTOMT):c.35-16G>C	LRTOMT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 797446	NM_001145308.5(LRTOMT):c.35-5C>T	LRTOMT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 666709	NM_001145308.5(LRTOMT):c.35-4G>A	LRTOMT	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 228841	NM_001145308.5(LRTOMT):c.53A>C (p.Asp18Ala)	LRTOMT (D18A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1353600	NM_001145308.5(LRTOMT):c.55C>A (p.Leu19Met)	LRTOMT (L19M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1413443	NM_001145308.5(LRTOMT):c.61T>C (p.Cys21Arg)	LRTOMT (C21R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 44042	NM_001145308.5(LRTOMT):c.69G>C (p.Leu23=)	LRTOMT	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 3014951	NM_001145308.5(LRTOMT):c.78G>C (p.Gln26His)	LRTOMT (Q26H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 682807	NM_001145308.5(LRTOMT):c.83+34T>A	LRTOMT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183223	NM_001145308.5(LRTOMT):c.83+161G>A	LRTOMT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180036	NM_001145308.5(LRTOMT):c.84-234_84-232del	LRTOMT	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1186805	NM_001145308.5(LRTOMT):c.84-216G>C	LRTOMT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1650797	NM_001145308.5(LRTOMT):c.84-18T>C	LRTOMT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1376047	NM_001393500.2(TOMT):c.-4_10del (p.Met1fs)	LRTOMT, TOMT (T33fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 227532	NM_001393500.2(TOMT):c.18A>G (p.Ala6=)	LRTOMT, TOMT	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 227533	NM_001393500.2(TOMT):c.19T>C (p.Leu7=)	LRTOMT, TOMT	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1333659	NM_001393500.2(TOMT):c.55C>T (p.Arg19Trp)	LRTOMT, TOMT (R19W +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 1810173	NM_001393500.2(TOMT):c.56G>A (p.Arg19Gln)	LRTOMT, TOMT (R19Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2326892	NM_001393500.2(TOMT):c.61C>T (p.Arg21Trp)	TOMT, LRTOMT (R54W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1333694	NM_001393500.2(TOMT):c.62G>A (p.Arg21Gln)	LRTOMT, TOMT (R21Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 163941	NM_001393500.2(TOMT):c.66C>G (p.His22Gln)	LRTOMT, TOMT (H55Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 632174	NM_001393500.2(TOMT):c.73C>T (p.Arg25Ter)	LRTOMT, TOMT (R58* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GConflicting classifications of pathogenicity
Select item 1339595	NM_001393500.2(TOMT):c.74G>A (p.Arg25Gln)	LRTOMT, TOMT (R25Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2433534	NM_001393500.2(TOMT):c.80T>C (p.Leu27Pro)	LRTOMT, TOMT (L27P +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 1990238	NM_001393500.2(TOMT):c.85C>T (p.Arg29Cys)	LRTOMT, TOMT (R29C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 227534	NM_001393500.2(TOMT):c.89C>T (p.Thr30Met)	LRTOMT, TOMT (T63M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 305990	NM_001393500.2(TOMT):c.90G>A (p.Thr30=)	LRTOMT, TOMT	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 179867	NM_001393500.2(TOMT):c.92T>G (p.Val31Gly)	LRTOMT, TOMT (V64G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance

<< First< Prev

Page of 3