2499[HGNC] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 200

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 151637	GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	ZNF747, ZNF747-DT +378 more	Copy number gain	See cases	GPathogenic
Select item 146013	GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3	LOC130058889, LOC130058890 +207 more	Copy number gain	See cases	GPathogenic
Select item 144329	GRCh38/hg38 16p11.2-11.1(chr16:30691912-36160463)x3	AHSP, ARMC5 +136 more	Copy number gain	See cases	GPathogenic
Select item 44176	NM_001330.5(CTF1):c.25+6G>C	CTF1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2442954	NM_001330.5(CTF1):c.25+10dup	CTF1	Duplication (intron variant)	Cardiomyopathy	GLikely benign
Select item 1164131	NM_001330.5(CTF1):c.26-1030C>G	CTF1	Single nucleotide variant (intron variant)	Dilated Cardiomyopathy, Dominant	GBenign
Select item 2883156	NM_001330.5(CTF1):c.26-17C>G	CTF1	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated Cardiomyopathy, Dominant	GLikely benign
Select item 2203620	NM_001330.5(CTF1):c.26-17C>T	CTF1	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated Cardiomyopathy, Dominant	GLikely benign
Select item 1536702	NM_001330.5(CTF1):c.26-15C>T	CTF1	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated Cardiomyopathy, Dominant	GLikely benign
Select item 2197223	NM_001330.5(CTF1):c.26-13C>A	CTF1	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated Cardiomyopathy, Dominant	GLikely benign
Select item 2192444	NM_001330.5(CTF1):c.26-13C>G	CTF1	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 1593153	NM_001330.5(CTF1):c.26-13C>T	CTF1	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated Cardiomyopathy, Dominant	GLikely benign
Select item 163015	NM_001330.5(CTF1):c.26-12C>G	CTF1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 640474	NM_001330.5(CTF1):c.26-1G>A	CTF1	Single nucleotide variant (non-coding transcript variant +2 more)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 2420256	NM_001330.5(CTF1):c.26A>C (p.Glu9Ala)	CTF1 (E9A)	Single nucleotide variant (missense variant +2 more)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 567043	NM_001330.5(CTF1):c.32C>G (p.Pro11Arg)	CTF1 (P11R +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 544364	NM_001330.5(CTF1):c.34C>T (p.Gln12Ter)	CTF1 (Q12* +1 more)	Single nucleotide variant (nonsense +1 more)	not specified +2 more	GUncertain significance
Select item 1369901	NM_001330.5(CTF1):c.37A>G (p.Thr13Ala)	CTF1 (T12A +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 701490	NM_001330.5(CTF1):c.55C>A (p.Leu19Ile)	CTF1 (L18I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GLikely benign
Select item 2795818	NM_001330.5(CTF1):c.64C>G (p.His22Asp)	CTF1 (H21D +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 2177898	NM_001330.5(CTF1):c.75C>A (p.Ala25=)	CTF1	Single nucleotide variant (synonymous variant +1 more)	Dilated Cardiomyopathy, Dominant	GLikely benign
Select item 660206	NM_001330.5(CTF1):c.83G>A (p.Arg28His)	CTF1 (R28H +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated Cardiomyopathy, Dominant +1 more	GConflicting classifications of pathogenicity
Select item 1440603	NM_001330.5(CTF1):c.86_88del (p.Gln29_Thr30delinsPro)	CTF1	Deletion (inframe_indel +1 more)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 2150168	NM_001330.5(CTF1):c.91C>T (p.His31Tyr)	CTF1 (H30Y +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 2144950	NM_001330.5(CTF1):c.101C>T (p.Ala34Val)	CTF1 (A33V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 179390	NM_001330.5(CTF1):c.102G>A (p.Ala34=)	CTF1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2185768	NM_001330.5(CTF1):c.103C>A (p.His35Asn)	CTF1 (H35N +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 2880051	NM_001330.5(CTF1):c.111C>T (p.Leu37=)	CTF1	Single nucleotide variant (synonymous variant +1 more)	Dilated Cardiomyopathy, Dominant	GLikely benign
Select item 44172	NM_001330.5(CTF1):c.120C>T (p.Tyr40=)	CTF1	Single nucleotide variant (synonymous variant +1 more)	Dilated Cardiomyopathy, Dominant +2 more	GBenign
Select item 1652038	NM_001330.5(CTF1):c.121G>T (p.Ala41Ser)	CTF1 (A40S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated Cardiomyopathy, Dominant	GLikely benign
Select item 2048890	NM_001330.5(CTF1):c.130C>G (p.Leu44Val)	CTF1 (L44V +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 44173	NM_001330.5(CTF1):c.144+7G>T	CTF1	Single nucleotide variant (intron variant)	Dilated Cardiomyopathy, Dominant +1 more	GLikely benign
Select item 1318025	NM_001330.5(CTF1):c.145-313_145-312del	CTF1	Deletion (intron variant)	not provided	GLikely benign
Select item 1317560	NM_001330.5(CTF1):c.145-204G>C	CTF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 44175	NM_001330.5(CTF1):c.145-13C>T	CTF1, LOC130058878	Single nucleotide variant (intron variant)	Dilated Cardiomyopathy, Dominant +1 more	GConflicting classifications of pathogenicity
Select item 44174	NM_001330.5(CTF1):c.145-10G>A	CTF1, LOC130058878	Single nucleotide variant (intron variant)	Dilated Cardiomyopathy, Dominant +1 more	GConflicting classifications of pathogenicity
Select item 2870433	NM_001330.5(CTF1):c.145-7T>A	CTF1, LOC130058878	Single nucleotide variant (intron variant)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 1944915	NM_001330.5(CTF1):c.158G>A (p.Gly53Glu)	CTF1, LOC130058878 (G53E +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 2762165	NM_001330.5(CTF1):c.162C>A (p.Asp54Glu)	CTF1, LOC130058878 (D54E +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 1104216	NM_001330.5(CTF1):c.172C>T (p.Leu58=)	CTF1, LOC130058878	Single nucleotide variant (synonymous variant +1 more)	Dilated Cardiomyopathy, Dominant	GLikely benign
Select item 699844	NM_001330.5(CTF1):c.174G>A (p.Leu58=)	CTF1, LOC130058878	Single nucleotide variant (synonymous variant +1 more)	Dilated Cardiomyopathy, Dominant	GLikely benign
Select item 2727359	NM_001330.5(CTF1):c.183C>A (p.Phe61Leu)	CTF1, LOC130058878 (F60L +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 1425629	NM_001330.5(CTF1):c.184T>A (p.Ser62Thr)	CTF1, LOC130058878 (S61T +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 1329231	NM_001330.5(CTF1):c.190C>T (p.Pro64Ser)	CTF1, LOC130058878 (P63S +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated Cardiomyopathy, Dominant +2 more	GConflicting classifications of pathogenicity
Select item 1127482	NM_001330.5(CTF1):c.201G>T (p.Pro67=)	CTF1, LOC130058878	Single nucleotide variant (synonymous variant +1 more)	Dilated Cardiomyopathy, Dominant	GLikely benign
Select item 1571012	NM_001330.5(CTF1):c.207C>T (p.Ala69=)	CTF1, LOC130058878	Single nucleotide variant (synonymous variant +1 more)	Dilated Cardiomyopathy, Dominant	GLikely benign
Select item 1378792	NM_001330.5(CTF1):c.207C>A (p.Ala69=)	CTF1, LOC130058878	Single nucleotide variant (synonymous variant +1 more)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 3078608	NM_001330.5(CTF1):c.208G>A (p.Gly70Ser)	CTF1, LOC130058878 (G70S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2781471	NM_001330.5(CTF1):c.211C>A (p.Leu71Met)	CTF1, LOC130058878 (L71M +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 724899	NM_001330.5(CTF1):c.219C>G (p.Ala73=)	CTF1, LOC130058878	Single nucleotide variant (synonymous variant +1 more)	Dilated Cardiomyopathy, Dominant	GLikely benign
Select item 655597	NM_001330.5(CTF1):c.224C>T (p.Ala75Val)	CTF1, LOC130058878 (A74V +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 318954	NM_001330.5(CTF1):c.228G>A (p.Pro76=)	CTF1, LOC130058878	Single nucleotide variant (synonymous variant +1 more)	Dilated Cardiomyopathy, Dominant	GLikely benign
Select item 2720632	NM_001330.5(CTF1):c.235G>A (p.Ala79Thr)	CTF1, LOC130058878 (A79T +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 967963	NM_001330.5(CTF1):c.238G>A (p.Gly80Arg)	CTF1, LOC130058878 (G79R +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 1623982	NM_001330.5(CTF1):c.246A>C (p.Pro82=)	CTF1, LOC130058878	Single nucleotide variant (synonymous variant +1 more)	Dilated Cardiomyopathy, Dominant	GLikely benign
Select item 1972020	NM_001330.5(CTF1):c.250C>T (p.His84Tyr)	CTF1, LOC130058878 (H83Y +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 1986116	NM_001330.5(CTF1):c.252C>G (p.His84Gln)	CTF1, LOC130058878 (H84Q +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 2737602	NM_001330.5(CTF1):c.253G>T (p.Glu85Ter)	CTF1, LOC130058878 (E84* +1 more)	Single nucleotide variant (nonsense +1 more)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 1004706	NM_001330.5(CTF1):c.253G>C (p.Glu85Gln)	CTF1, LOC130058878 (E84Q +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 1001974	NM_001330.5(CTF1):c.253G>A (p.Glu85Lys)	CTF1, LOC130058878 (E84K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2901538	NM_001330.5(CTF1):c.263G>T (p.Arg88Leu)	CTF1, LOC130058878 (R87L +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 44177	NM_001330.5(CTF1):c.274G>A (p.Ala92Thr)	LOC130058878, CTF1 (A92T +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated Cardiomyopathy, Dominant +2 more	GConflicting classifications of pathogenicity
Select item 163017	NM_001330.5(CTF1):c.275C>A (p.Ala92Glu)	CTF1, LOC130058878 (A92E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2719279	NM_001330.5(CTF1):c.283_291dup (p.Leu97_Pro98insAlaAlaLeu)	CTF1, LOC130058878	Duplication (inframe_insertion +1 more)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 44178	NM_001330.5(CTF1):c.280C>T (p.Leu94=)	CTF1, LOC130058878	Single nucleotide variant (synonymous variant +1 more)	Dilated Cardiomyopathy, Dominant +2 more	GBenign/Likely benign
Select item 1522126	NM_001330.5(CTF1):c.283_297dup (p.Ala95_Pro99dup)	LOC130058878, CTF1	Duplication (inframe_insertion +1 more)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 2081807	NM_001330.5(CTF1):c.285C>T (p.Ala95=)	CTF1, LOC130058878	Single nucleotide variant (synonymous variant +1 more)	Dilated Cardiomyopathy, Dominant	GLikely benign
Select item 1445358	NM_001330.5(CTF1):c.287C>A (p.Ala96Glu)	CTF1, LOC130058878 (A95E +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 2968529	NM_001330.5(CTF1):c.291G>T (p.Leu97=)	CTF1, LOC130058878	Single nucleotide variant (synonymous variant +1 more)	Dilated Cardiomyopathy, Dominant	GLikely benign
Select item 2917199	NM_001330.5(CTF1):c.292C>G (p.Pro98Ala)	CTF1, LOC130058878 (P98A +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 575497	NM_001330.5(CTF1):c.293C>T (p.Pro98Leu)	CTF1, LOC130058878 (P98L +1 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2079420	NM_001330.5(CTF1):c.295C>G (p.Pro99Ala)	CTF1, LOC130058878 (P98A +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 3078609	NM_001330.5(CTF1):c.296C>T (p.Pro99Leu)	CTF1, LOC130058878 (P98L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2416942	NM_001330.5(CTF1):c.304G>C (p.Asp102His)	CTF1, LOC130058878 (D101H +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 1942601	NM_001330.5(CTF1):c.306C>T (p.Asp102=)	CTF1, LOC130058878	Single nucleotide variant (synonymous variant +1 more)	Dilated Cardiomyopathy, Dominant	GLikely benign
Select item 1356394	NM_001330.5(CTF1):c.311T>C (p.Val104Ala)	CTF1, LOC130058878 (V104A +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 1051014	NM_001330.5(CTF1):c.314G>A (p.Cys105Tyr)	CTF1, LOC130058878 (C104Y +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 1983981	NM_001330.5(CTF1):c.316C>T (p.Arg106Cys)	CTF1, LOC130058878 (R105C +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 2862171	NM_001330.5(CTF1):c.317del (p.Arg106fs)	CTF1, LOC130058878 (R105fs +1 more)	Deletion (frameshift variant +1 more)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 654944	NM_001330.5(CTF1):c.319C>A (p.Arg107Ser)	CTF1, LOC130058878 (R106S +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 163018	NM_001330.5(CTF1):c.319C>T (p.Arg107Cys)	CTF1, LOC130058878 (R107C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 860403	NM_001330.5(CTF1):c.328G>A (p.Glu110Lys)	CTF1, LOC130058878 (E109K +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 2164314	NM_001330.5(CTF1):c.332T>C (p.Leu111Pro)	CTF1, LOC130058878 (L110P +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 1990109	NM_001330.5(CTF1):c.337C>A (p.Pro113Thr)	CTF1, LOC130058878 (P113T +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 478118	NM_001330.5(CTF1):c.345_346dup (p.Pro116fs)	CTF1, LOC130058878 (P115fs +1 more)	Microsatellite (frameshift variant +1 more)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 44179	NM_001330.5(CTF1):c.341G>A (p.Arg114His)	CTF1, LOC130058878 (R114H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2897163	NM_001330.5(CTF1):c.342C>G (p.Arg114=)	CTF1, LOC130058878	Single nucleotide variant (synonymous variant +1 more)	Dilated Cardiomyopathy, Dominant	GLikely benign
Select item 998727	NM_001330.5(CTF1):c.346_375del (p.Pro116_Ala125del)	CTF1, LOC130058878	Deletion (inframe_deletion +1 more)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 915561	NM_001330.5(CTF1):c.342C>A (p.Arg114=)	CTF1, LOC130058878	Single nucleotide variant (synonymous variant +1 more)	Cardiomyopathy	GLikely benign
Select item 478117	NM_001330.5(CTF1):c.345_346delinsAA (p.Pro116Thr)	CTF1, LOC130058878 (P115T +1 more)	Indel (missense variant +1 more)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 2732186	NM_001330.5(CTF1):c.347C>T (p.Pro116Leu)	CTF1, LOC130058878 (P116L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 318955	NM_001330.5(CTF1):c.347C>G (p.Pro116Arg)	CTF1, LOC130058878 (P116R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 180306	NM_001330.5(CTF1):c.347_348delinsGC (p.Pro116Arg)	CTF1, LOC130058878 (P115R +1 more)	Indel (missense variant +1 more)	not specified	GLikely benign
Select item 1019100	NM_001330.5(CTF1):c.350G>A (p.Arg117His)	CTF1, LOC130058878 (R116H +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 2094624	NM_001330.5(CTF1):c.356_404del (p.Leu119fs)	CTF1, LOC130058878 (L118fs +1 more)	Deletion (frameshift variant +1 more)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 1465781	NM_001330.5(CTF1):c.356T>G (p.Leu119Arg)	CTF1, LOC130058878 (L118R +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated Cardiomyopathy, Dominant +1 more	GUncertain significance
Select item 1450177	NM_001330.5(CTF1):c.358C>T (p.Arg120Cys)	CTF1, LOC130058878 (R119C +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 2872796	NM_001330.5(CTF1):c.363C>A (p.Arg121=)	CTF1, LOC130058878	Single nucleotide variant (synonymous variant +1 more)	Dilated Cardiomyopathy, Dominant	GLikely benign
Select item 2145133	NM_001330.5(CTF1):c.364C>G (p.Leu122Val)	CTF1, LOC130058878 (L121V +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated Cardiomyopathy, Dominant	GUncertain significance

<< First< Prev

Page of 2