LOC126806421[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 255

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +488 more	Copy number loss	See cases	GPathogenic
Select item 60253	GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1	AGPS, ATF2 +411 more	Copy number loss	See cases	GPathogenic
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 155530	GRCh38/hg38 2q31.1-31.3(chr2:174236451-181188846)x1	AGPS, ATF2 +224 more	Copy number loss	See cases	GPathogenic
Select item 147705	GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1	AGPS, ATF2 +307 more	Copy number loss	See cases	GPathogenic
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 155417	GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	AGPS, ANKAR +377 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 153288	GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1	ANKAR, ASDURF +312 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 583796	NC_000002.11:g.(?_179296804)_(179456251_?)dup	LOC126806421, LOC126806422 +17 more	Duplication	Dystonia 16	GUncertain significance
Select item 560108	Single allele	LOC126806420, LOC126806421 +12 more	Deletion	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 535754	NC_000002.12:g.(?_178528254)_(178544135_?)del	TTN-AS1, LOC126806420 +7 more	Deletion	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 515108	NM_001267550.2(TTN):c.96949C>G (p.His32317Asp)	LOC126806421, TTN +1 more (H30676D +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2438328	NM_001267550.2(TTN):c.96947T>C (p.Ile32316Thr)	LOC126806421, TTN +1 more (I23251T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2142197	NM_001267550.2(TTN):c.96944_96945dup (p.Ile32316fs)	TTN-AS1, LOC126806421 +1 more (I30675fs +5 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 47574	NM_001267550.2(TTN):c.96944C>T (p.Thr32315Ile)	LOC126806421, TTN +1 more (T32315I +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +8 more	GBenign/Likely benign
Select item 1066881	NM_001267550.2(TTN):c.96937C>T (p.Gln32313Ter)	LOC126806421, TTN +1 more (Q23248* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 1693832	NM_001267550.2(TTN):c.96934C>T (p.Pro32312Ser)	LOC126806421, TTN +1 more (P23247S +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 179601	NM_001267550.2(TTN):c.96931A>G (p.Met32311Val)	LOC126806421, TTN +1 more (M29743V +5 more)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 238871	NM_001267550.2(TTN):c.96928A>C (p.Thr32310Pro)	LOC126806421, TTN +1 more (T32310P +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +7 more	GUncertain significance
Select item 500174	NM_001267550.2(TTN):c.96921T>C (p.Asp32307=)	TTN-AS1, LOC126806421 +1 more	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 2437580	NM_001267550.2(TTN):c.96919G>A (p.Asp32307Asn)	TTN-AS1, LOC126806421 +1 more (D23242N +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 47573	NM_001267550.2(TTN):c.96918C>T (p.Ile32306=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Tibial muscular dystrophy +8 more	GConflicting classifications of pathogenicity
Select item 766569	NM_001267550.2(TTN):c.96915A>C (p.Thr32305=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 534971	NM_001267550.2(TTN):c.96909dup (p.Pro32304fs)	LOC126806421, TTN +1 more (P23364fs +5 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 535640	NM_001267550.2(TTN):c.96906G>A (p.Val32302=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely benign
Select item 2954258	NM_001267550.2(TTN):c.96905-1G>A	LOC126806421, TTN +1 more	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2169022	NM_001267550.2(TTN):c.96905-20G>A	LOC126806421, TTN +1 more	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 1220387	NM_001267550.2(TTN):c.96904+34T>A	LOC126806421, TTN +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191780	NM_001267550.2(TTN):c.96904+18dup	LOC126806421, TTN +1 more	Duplication (intron variant)	not provided	GLikely benign
Select item 1933143	NM_001267550.2(TTN):c.96904+17C>A	LOC126806421, TTN +1 more	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2926861	NM_001267550.2(TTN):c.96904+13T>C	LOC126806421, TTN +1 more	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1640931	NM_001267550.2(TTN):c.96904+13T>G	LOC126806421, TTN +1 more	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2937343	NM_001267550.2(TTN):c.96904+10A>G	LOC126806421, TTN +1 more	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 706434	NM_001267550.2(TTN):c.96904+9C>A	LOC126806421, TTN +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 499975	NM_001267550.2(TTN):c.96904+8C>A	LOC126806421, TTN +1 more	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +2 more	GConflicting classifications of pathogenicity
Select item 165698	NM_001267550.2(TTN):c.96904+8C>T	LOC126806421, TTN +1 more	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +5 more	GBenign/Likely benign
Select item 47572	NM_001267550.2(TTN):c.96904+4T>C	LOC126806421, TTN +1 more	Single nucleotide variant (intron variant)	Myopathy, myofibrillar, 9, with early respiratory failure +7 more	GConflicting classifications of pathogenicity
Select item 466674	NM_001267550.2(TTN):c.96904+1G>A	LOC126806421, TTN +1 more	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GConflicting classifications of pathogenicity
Select item 467692	NM_001267550.2(TTN):c.96904G>A (p.Val32302Met)	LOC126806421, TTN +1 more (V32302M +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A +2 more	GUncertain significance
Select item 2114231	NM_001267550.2(TTN):c.96901del (p.Arg32301fs)	LOC126806421, TTN +1 more (R23361fs +5 more)	Deletion (frameshift variant)	TTN-related myopathy +2 more	GConflicting classifications of pathogenicity
Select item 2948131	NM_001267550.2(TTN):c.96897C>T (p.Asp32299=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 679594	NM_001267550.2(TTN):c.96892C>G (p.Gln32298Glu)	LOC126806421, TTN +1 more (Q23425E +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 223362	NM_001267550.2(TTN):c.96892C>T (p.Gln32298Ter)	LOC126806421, TTN +1 more (Q32298* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GUncertain significance
Select item 931872	NM_001267550.2(TTN):c.96887C>T (p.Thr32296Ile)	LOC126806421, TTN +1 more (T29728I +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy	GUncertain significance
Select item 499885	NM_001267550.2(TTN):c.96883G>A (p.Val32295Met)	LOC126806421, TTN +1 more (V29727M +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2936629	NM_001267550.2(TTN):c.96882C>T (p.Ala32294=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1618619	NM_001267550.2(TTN):c.96879A>C (p.Thr32293=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1205128	NM_001267550.2(TTN):c.96879A>G (p.Thr32293=)	TTN-AS1, LOC126806421 +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 597945	NM_001267550.2(TTN):c.96877A>C (p.Thr32293Pro)	LOC126806421, TTN +1 more (T32293P +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 697691	NM_001267550.2(TTN):c.96873T>C (p.Thr32291=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	TTN-related disorder +4 more	GLikely benign
Select item 805733	NM_001267550.2(TTN):c.96872C>T (p.Thr32291Ile)	LOC126806421, TTN +1 more (T23418I +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1172864	NM_001267550.2(TTN):c.96871A>T (p.Thr32291Ser)	LOC126806421, TTN +1 more (T23226S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 838221	NM_001267550.2(TTN):c.96870_96871del (p.Glu32290fs)	LOC126806421, TTN +1 more (E29722fs +5 more)	Microsatellite (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 404963	NM_001267550.2(TTN):c.96868G>A (p.Glu32290Lys)	TTN-AS1, LOC126806421 +1 more (E32290K +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +2 more	GUncertain significance
Select item 1553841	NM_001267550.2(TTN):c.96858A>G (p.Ser32286=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +2 more	GLikely benign
Select item 2437700	NM_001267550.2(TTN):c.96854T>C (p.Val32285Ala)	LOC126806421, TTN +1 more (V23220A +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2928471	NM_001267550.2(TTN):c.96852T>C (p.Gly32284=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 1756342	NM_001267550.2(TTN):c.96850G>C (p.Gly32284Arg)	LOC126806421, TTN +1 more (G23344R +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1066644	NM_001267550.2(TTN):c.96849del (p.Gly32284fs)	LOC126806421, TTN +1 more (G23219fs +5 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1127168	NM_001267550.2(TTN):c.96840A>G (p.Gln32280=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1929281	NM_001267550.2(TTN):c.96838C>T (p.Gln32280Ter)	LOC126806421, TTN +1 more (Q29712* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +2 more	GLikely pathogenic
Select item 1645125	NM_001267550.2(TTN):c.96837A>T (p.Ala32279=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 467691	NM_001267550.2(TTN):c.96837A>C (p.Ala32279=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely benign
Select item 1083432	NM_001267550.2(TTN):c.96834G>A (p.Arg32278=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +2 more	GLikely benign
Select item 1505968	NM_001267550.2(TTN):c.96824_96831del (p.Leu32274_Phe32275insTer)	LOC126806421, TTN +1 more	Deletion (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2437489	NM_001267550.2(TTN):c.96830T>A (p.Ile32277Lys)	LOC126806421, TTN +1 more (I23212K +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 681028	NM_001267550.2(TTN):c.96824T>C (p.Phe32275Ser)	LOC126806421, TTN +1 more (F23335S +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1756335	NM_001267550.2(TTN):c.96819C>T (p.Tyr32273=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1586175	NM_001267550.2(TTN):c.96816A>G (p.Gln32272=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 691674	NM_001267550.2(TTN):c.96812A>G (p.Glu32271Gly)	LOC126806421, TTN +1 more (E30630G +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 229547	NM_001267550.2(TTN):c.96807A>T (p.Glu32269Asp)	LOC126806421, TTN +1 more (E29701D +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2437751	NM_001267550.2(TTN):c.96803A>G (p.Asn32268Ser)	LOC126806421, TTN +1 more (N23203S +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2926929	NM_001267550.2(TTN):c.96798C>A (p.Ser32266=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 596374	NM_001267550.2(TTN):c.96796T>C (p.Ser32266Pro)	LOC126806421, TTN +1 more (S32266P +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2953914	NM_001267550.2(TTN):c.96789T>A (p.Thr32263=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 1756304	NM_001267550.2(TTN):c.96789T>C (p.Thr32263=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 405155	NM_001267550.2(TTN):c.96782A>G (p.Glu32261Gly)	TTN-AS1, LOC126806421 +1 more (E32261G +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2952448	NM_001267550.2(TTN):c.96774A>G (p.Thr32258=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1101456	NM_001267550.2(TTN):c.96756T>C (p.Val32252=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 1471017	NM_001267550.2(TTN):c.96746G>A (p.Trp32249Ter)	LOC126806421, TTN +1 more (W30608* +5 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 167761	NM_001267550.2(TTN):c.96745T>C (p.Trp32249Arg)	LOC126806421, TTN +1 more (W32249R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 467690	NM_001267550.2(TTN):c.96743G>A (p.Arg32248Lys)	LOC126806421, TTN +1 more (R32248K +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2125429	NM_001267550.2(TTN):c.96742A>T (p.Arg32248Ter)	LOC126806421, TTN +1 more (R23375* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2451959	NM_001267550.2(TTN):c.96735C>T (p.Gly32245=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1521122	NM_001267550.2(TTN):c.96731del (p.Ala32244fs)	LOC126806421, TTN +1 more (A23304fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 597400	NM_001267550.2(TTN):c.96723C>G (p.Ala32241=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GConflicting classifications of pathogenicity
Select item 2939594	NM_001267550.2(TTN):c.96720G>A (p.Glu32240=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 535745	NM_001267550.2(TTN):c.96718G>A (p.Glu32240Lys)	TTN-AS1, LOC126806421 +1 more (E32240K +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 1130400	NM_001267550.2(TTN):c.96717C>T (p.Leu32239=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 405133	NM_001267550.2(TTN):c.96715C>T (p.Leu32239Phe)	LOC126806421, TTN +1 more (L32239F +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2451955	NM_001267550.2(TTN):c.96711T>C (p.Tyr32237=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely benign
Select item 1302557	NM_001267550.2(TTN):c.96708A>G (p.Gly32236=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1128240	NM_001267550.2(TTN):c.96708A>T (p.Gly32236=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 598297	NM_001267550.2(TTN):c.96707G>A (p.Gly32236Glu)	LOC126806421, TTN +1 more (G29668E +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 405088	NM_001267550.2(TTN):c.96698G>A (p.Arg32233Gln)	LOC126806421, TTN +1 more (R32233Q +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +6 more	GUncertain significance
Select item 202528	NM_001267550.2(TTN):c.96697C>T (p.Arg32233Ter)	LOC126806421, TTN +1 more (R30592* +5 more)	Single nucleotide variant (nonsense)	not provided +3 more	GLikely pathogenic
Select item 405089	NM_001267550.2(TTN):c.96685G>A (p.Asp32229Asn)	LOC126806421, TTN +1 more (D32229N +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +2 more	GUncertain significance
Select item 1756275	NM_001267550.2(TTN):c.96680_96684del (p.Leu32227fs)	LOC126806421, TTN +1 more (L23162fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic

<< First< Prev

Page of 3