LOC101927055[gene] - ClinVar - NCBI

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	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 653529	NC_000002.12:g.(?_178663423)_(178804652_?)del	LOC126806432, LOC101927055 +6 more	Deletion	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 3030531	NM_001267550.2(TTN):c.4938T>C (p.Asn1646=)	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	TTN-related disorder	GLikely benign
Select item 1743109	NM_001267550.2(TTN):c.4929C>T (p.Cys1643=)	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1975354	NM_001267550.2(TTN):c.4923A>G (p.Thr1641=)	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1743056	NM_001267550.2(TTN):c.4921A>G (p.Thr1641Ala)	LOC101927055, TTN (T1595A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1538613	NM_001267550.2(TTN):c.4914A>G (p.Arg1638=)	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2946886	NM_001267550.2(TTN):c.4911C>T (p.Gly1637=)	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 288814	NM_001267550.2(TTN):c.4910del (p.Gly1637fs)	LOC101927055, TTN (G1637fs +1 more)	Deletion (frameshift variant +1 more)	not provided +2 more	GUncertain significance
Select item 3250943	NM_001267550.2(TTN):c.4899TAA[1] (p.Asn1634del)	LOC101927055, TTN (N1588del +1 more)	Microsatellite (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 467211	NM_001267550.2(TTN):c.4903A>G (p.Lys1635Glu)	LOC101927055, TTN (K1635E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +2 more	GUncertain significance
Select item 708709	NM_001267550.2(TTN):c.4902T>C (p.Asn1634=)	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 519023	NM_001267550.2(TTN):c.4894G>A (p.Ala1632Thr)	LOC101927055, TTN (A1586T +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1632531	NM_001267550.2(TTN):c.4893T>C (p.Thr1631=)	LOC101927055, TTN	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 701746	NM_001267550.2(TTN):c.4890G>T (p.Ala1630=)	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 696468	NM_001267550.2(TTN):c.4890G>A (p.Ala1630=)	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 515495	NM_001267550.2(TTN):c.4889C>T (p.Ala1630Val)	LOC101927055, TTN (A1630V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1020457	NM_001267550.2(TTN):c.4880G>A (p.Trp1627Ter)	LOC101927055, TTN (W1581* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 179059	NM_001267550.2(TTN):c.4874C>G (p.Ser1625Cys)	LOC101927055, TTN (S1625C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GUncertain significance
Select item 196143	NM_001267550.2(TTN):c.4852G>T (p.Asp1618Tyr)	LOC101927055, TTN (D1618Y +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 389262	NM_001267550.2(TTN):c.4851C>T (p.Ile1617=)	LOC101927055, TTN	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2438371	NM_001267550.2(TTN):c.4843C>T (p.Leu1615Phe)	LOC101927055, TTN (L1569F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 281552	NM_001267550.2(TTN):c.4837G>A (p.Ala1613Thr)	LOC101927055, TTN (A1613T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2089337	NM_001267550.2(TTN):c.4827C>G (p.Thr1609=)	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1742401	NM_001267550.2(TTN):c.4821A>C (p.Glu1607Asp)	LOC101927055, TTN (E1561D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 932570	NM_001267550.2(TTN):c.4815-2A>G	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 1647238	NM_001267550.2(TTN):c.4815-6T>C	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1557181	NM_001267550.2(TTN):c.4815-10C>T	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2942820	NM_001267550.2(TTN):c.4815-13del	LOC101927055, TTN	Deletion (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GBenign
Select item 1630417	NM_001267550.2(TTN):c.4815-15C>T	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1198987	NM_001267550.2(TTN):c.4815-26T>C	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1619196	NM_001267550.2(TTN):c.4814+18A>G	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2926805	NM_001267550.2(TTN):c.4814+16A>G	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 1626005	NM_001267550.2(TTN):c.4814+9G>C	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +5 more	GLikely benign
Select item 1080751	NM_001267550.2(TTN):c.4814+9G>A	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2133496	NM_001267550.2(TTN):c.4814+6T>C	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 1492639	NM_001267550.2(TTN):c.4814+3A>C	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 1678030	NM_001267550.2(TTN):c.4811T>C (p.Ile1604Thr)	LOC101927055, TTN (I1558T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1604600	NM_001267550.2(TTN):c.4794T>G (p.Pro1598=)	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 467191	NM_001267550.2(TTN):c.4784T>G (p.Ile1595Ser)	LOC101927055, TTN (I1595S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +5 more	GUncertain significance
Select item 3223280	NM_001267550.2(TTN):c.4773A>G (p.Lys1591=)	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1807498	NM_001267550.2(TTN):c.4770G>C (p.Leu1590Phe)	LOC101927055, TTN (L1544F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2953473	NM_001267550.2(TTN):c.4766G>A (p.Trp1589Ter)	LOC101927055, TTN (W1543* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 514702	NM_001267550.2(TTN):c.4764A>G (p.Val1588=)	LOC101927055, TTN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +3 more	GLikely benign
Select item 1602613	NM_001267550.2(TTN):c.4761T>C (p.Ile1587=)	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 518730	NM_001267550.2(TTN):c.4749_4754del (p.1582NP[1])	LOC101927055, TTN	Deletion (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1741913	NM_001267550.2(TTN):c.4752C>A (p.Asn1584Lys)	LOC101927055, TTN (N1538K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 467186	NM_001267550.2(TTN):c.4752C>T (p.Asn1584=)	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +2 more	GLikely benign
Select item 1131862	NM_001267550.2(TTN):c.4749C>T (p.Pro1583=)	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 915645	NM_001267550.2(TTN):c.4748C>T (p.Pro1583Leu)	LOC101927055, TTN (P1537L +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 1741836	NM_001267550.2(TTN):c.4741G>A (p.Gly1581Ser)	LOC101927055, TTN (G1535S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2089484	NM_001267550.2(TTN):c.4740G>C (p.Thr1580=)	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 383329	NM_001267550.2(TTN):c.4740G>A (p.Thr1580=)	LOC101927055, TTN	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GLikely benign
Select item 47100	NM_001267550.2(TTN):c.4739C>T (p.Thr1580Met)	LOC101927055, TTN (T1580M +1 more)	Single nucleotide variant (missense variant +1 more)	Myopathy, myofibrillar, 9, with early respiratory failure +8 more	GBenign/Likely benign
Select item 3330123	NM_001267550.2(TTN):c.4737T>C (p.Ala1579=)	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1117214	NM_001267550.2(TTN):c.4734A>G (p.Arg1578=)	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 202501	NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs)	LOC101927055, TTN (M1529fs +1 more)	Microsatellite (frameshift variant +1 more)	Myopathy, myofibrillar, 9, with early respiratory failure +11 more	GConflicting classifications of pathogenicity
Select item 192084	NM_001267550.2(TTN):c.4727A>C (p.Lys1576Thr)	LOC101927055, TTN (K1576T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2923393	NM_001267550.2(TTN):c.4716A>C (p.Arg1572=)	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 47098	NM_001267550.2(TTN):c.4715G>A (p.Arg1572Gln)	LOC101927055, TTN (R1572Q +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +7 more	GBenign/Likely benign
Select item 503658	NM_001267550.2(TTN):c.4714C>T (p.Arg1572Ter)	LOC101927055, TTN (R1572* +1 more)	Single nucleotide variant (nonsense +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 47095	NM_001267550.2(TTN):c.4709G>C (p.Gly1570Ala)	LOC101927055, TTN (G1570A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 440979	NM_001267550.2(TTN):c.4700T>C (p.Ile1567Thr)	LOC101927055, TTN (I1567T +1 more)	Single nucleotide variant (missense variant +1 more)	Tibial muscular dystrophy +7 more	GUncertain significance
Select item 1615117	NM_001267550.2(TTN):c.4686G>T (p.Leu1562=)	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2682796	NM_001267550.2(TTN):c.4679A>G (p.Glu1560Gly)	LOC101927055, TTN (E1514G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 166318	NM_001267550.2(TTN):c.4671G>A (p.Met1557Ile)	LOC101927055, TTN (M1557I +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 332956	NM_001267550.2(TTN):c.4668G>A (p.Pro1556=)	LOC101927055, TTN	Single nucleotide variant (synonymous variant +1 more)	Early-onset myopathy with fatal cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 2438259	NM_001267550.2(TTN):c.4667C>T (p.Pro1556Leu)	LOC101927055, TTN (P1510L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 467179	NM_001267550.2(TTN):c.4651G>A (p.Glu1551Lys)	LOC101927055, TTN (E1551K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 592953	NM_001267550.2(TTN):c.4650G>A (p.Val1550=)	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 535279	NM_001267550.2(TTN):c.4649T>C (p.Val1550Ala)	LOC101927055, TTN (V1550A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 3223276	NM_001267550.2(TTN):c.4646-5T>G	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 467177	NM_001267550.2(TTN):c.4646-5T>A	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 467178	NM_001267550.2(TTN):c.4646-7C>A	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2942880	NM_001267550.2(TTN):c.4646-14C>T	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1639672	NM_001267550.2(TTN):c.4646-18A>G	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1534319	NM_001267550.2(TTN):c.4645+19A>G	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2944240	NM_001267550.2(TTN):c.4645+18A>T	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2921851	NM_001267550.2(TTN):c.4645+18A>G	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 1627050	NM_001267550.2(TTN):c.4645+12T>C	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2939118	NM_001267550.2(TTN):c.4645+9A>G	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2949060	NM_001267550.2(TTN):c.4645+8G>A	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 195993	NM_001267550.2(TTN):c.4645+8G>T	LOC101927055, TTN	Single nucleotide variant (intron variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GBenign/Likely benign
Select item 1741071	NM_001267550.2(TTN):c.4642G>T (p.Glu1548Ter)	LOC101927055, TTN (E1548* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 500608	NM_001267550.2(TTN):c.4641G>T (p.Val1547=)	LOC101927055, TTN	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1218352	NM_001267550.2(TTN):c.4639G>A (p.Val1547Met)	LOC101927055, TTN (V1501M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GConflicting classifications of pathogenicity
Select item 47078	NM_001267550.2(TTN):c.4630A>G (p.Ile1544Val)	LOC101927055, TTN (I1544V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +8 more	GBenign/Likely benign
Select item 3369688	NM_001267550.2(TTN):c.4624T>G (p.Ser1542Ala)	LOC101927055, TTN (S1496A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2948484	NM_001267550.2(TTN):c.4623T>A (p.Ile1541=)	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 405168	NM_001267550.2(TTN):c.4621A>G (p.Ile1541Val)	LOC101927055, TTN (I1541V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 1564151	NM_001267550.2(TTN):c.4617T>G (p.Ser1539=)	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign

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