1738[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 672

<< First< Prev

Page of 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 57255	GRCh38/hg38 7q22.1-31.1(chr7:101807149-112414850)x1	ALKBH4, ARMC10 +292 more	Copy number loss	See cases	GPathogenic
Select item 148448	GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	ALKBH4, ANKRD7 +474 more	Copy number loss	See cases	GPathogenic
Select item 154561	GRCh38/hg38 7q22.3-31.1(chr7:105575647-107949294)x1	ATXN7L1, BCAP29 +104 more	Copy number loss	See cases	GUncertain significance
Select item 60284	GRCh38/hg38 7q22.3-31.1(chr7:106261939-111228036)x1	DUS4L, DUS4L-BCAP29 +92 more	Copy number loss	See cases	GPathogenic
Select item 559300	NM_000108.3(DLD):c.-417A>T	DLD	Single nucleotide variant	not provided	GBenign
Select item 377771	NM_000108.5(DLD):c.-42C>T	DLD	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 510914	NM_000108.5(DLD):c.-31G>A	DLD	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 909173	NM_000108.5(DLD):c.-10C>T	DLD	Single nucleotide variant (5 prime UTR variant)	Pyruvate dehydrogenase E3 deficiency +2 more	GUncertain significance
Select item 358563	NM_000108.5(DLD):c.-8G>T	DLD	Single nucleotide variant (5 prime UTR variant)	Pyruvate dehydrogenase complex deficiency +2 more	GUncertain significance
Select item 392114	NM_000108.5(DLD):c.-7C>G	DLD	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 2865401	NM_000108.5(DLD):c.3G>A (p.Met1Ile)	DLD (M1I)	Single nucleotide variant (missense variant +2 more)	Pyruvate dehydrogenase E3 deficiency	GPathogenic
Select item 2140178	NM_000108.5(DLD):c.6G>C (p.Gln2His)	DLD (Q2H)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GUncertain significance
Select item 1540218	NM_000108.5(DLD):c.6G>A (p.Gln2=)	DLD	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 572549	NM_000108.5(DLD):c.12G>A (p.Trp4Ter)	DLD (W4*)	Single nucleotide variant (nonsense +1 more)	Pyruvate dehydrogenase E3 deficiency	GPathogenic
Select item 2442023	NM_000108.5(DLD):c.13A>G (p.Ser5Gly)	DLD (S5G)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GUncertain significance
Select item 1726142	NM_000108.5(DLD):c.19dup (p.Val7fs)	DLD (V7fs)	Duplication (frameshift variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 1119924	NM_000108.5(DLD):c.18T>C (p.Arg6=)	DLD	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2359320	NM_000108.5(DLD):c.23A>T (p.Tyr8Phe)	DLD (Y8F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1392784	NM_000108.5(DLD):c.24C>G (p.Tyr8Ter)	DLD (Y8*)	Single nucleotide variant (nonsense +1 more)	Pyruvate dehydrogenase E3 deficiency	GPathogenic
Select item 1115179	NM_000108.5(DLD):c.24C>T (p.Tyr8=)	DLD	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 3082700	NM_000108.5(DLD):c.25T>A (p.Cys9Ser)	DLD (C9S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1951524	NM_000108.5(DLD):c.27C>T (p.Cys9=)	DLD	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2149368	NM_000108.5(DLD):c.29C>T (p.Ser10Phe)	DLD (S10F)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GUncertain significance
Select item 1126433	NM_000108.5(DLD):c.30C>T (p.Ser10=)	DLD	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 911148	NM_000108.5(DLD):c.30C>A (p.Ser10=)	DLD	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase complex deficiency +2 more	GConflicting classifications of pathogenicity
Select item 137103	NM_000108.5(DLD):c.34G>A (p.Ala12Thr)	DLD (A12T)	Single nucleotide variant (missense variant +1 more)	Leigh syndrome +4 more	GBenign/Likely benign
Select item 732787	NM_000108.5(DLD):c.36C>T (p.Ala12=)	DLD	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 371615	NM_000108.5(DLD):c.39+1G>A	DLD	Single nucleotide variant (splice donor variant)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 1483123	NM_000108.5(DLD):c.39+3G>C	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GUncertain significance
Select item 2747286	NM_000108.5(DLD):c.39+7G>A	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2842884	NM_000108.5(DLD):c.39+10G>C	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2128800	NM_000108.5(DLD):c.39+10G>A	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 1646340	NM_000108.5(DLD):c.39+11A>C	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2781737	NM_000108.5(DLD):c.39+12G>A	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2734700	NM_000108.5(DLD):c.39+14A>T	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 1935324	NM_000108.5(DLD):c.39+14A>G	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2738092	NM_000108.5(DLD):c.39+20G>C	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 1233888	NM_000108.5(DLD):c.39+99dup	DLD	Duplication (intron variant)	not provided	GBenign
Select item 1272542	NM_000108.5(DLD):c.39+199G>A	DLD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205407	NM_000108.5(DLD):c.39+209C>T	DLD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201802	NM_000108.5(DLD):c.39+317G>C	DLD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1422875	NM_000108.5(DLD):c.40-20G>A	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2749057	NM_000108.5(DLD):c.40-18G>A	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2894101	NM_000108.5(DLD):c.40-17A>G	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 1113636	NM_000108.5(DLD):c.40-10C>G	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2783497	NM_000108.5(DLD):c.40-5del	DLD	Deletion (intron variant)	Pyruvate dehydrogenase E3 deficiency	GBenign
Select item 1664609	NM_000108.5(DLD):c.40-4del	DLD	Deletion (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2131741	NM_000108.5(DLD):c.40-3T>A	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GUncertain significance
Select item 1399655	NM_000108.5(DLD):c.40-3T>C	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GUncertain significance
Select item 2027803	NM_000108.5(DLD):c.40-2A>G	DLD	Single nucleotide variant (splice acceptor variant)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 1284682	NM_000108.5(DLD):c.45C>G (p.Gly15=)	DLD	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 1095111	NM_000108.5(DLD):c.48T>C (p.His16=)	DLD	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2052081	NM_000108.5(DLD):c.53A>G (p.Asn18Ser)	DLD (N18S)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GUncertain significance
Select item 578582	NM_000108.5(DLD):c.55C>G (p.Arg19Gly)	DLD (R19G)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 796711	NM_000108.5(DLD):c.57A>T (p.Arg19=)	DLD	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2144262	NM_000108.5(DLD):c.58A>G (p.Ile20Val)	DLD (I20V)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GUncertain significance
Select item 1199357	NM_000108.5(DLD):c.65A>G (p.His22Arg)	DLD (H22R)	Single nucleotide variant (5 prime UTR variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GUncertain significance
Select item 1570160	NM_000108.5(DLD):c.66T>C (p.His22=)	DLD	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2072464	NM_000108.5(DLD):c.69C>T (p.Gly23=)	DLD	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 1612522	NM_000108.5(DLD):c.70C>T (p.Leu24=)	DLD	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 1105935	NM_000108.5(DLD):c.72A>G (p.Leu24=)	DLD	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 3032685	NM_000108.5(DLD):c.73C>T (p.Gln25Ter)	DLD (Q25*)	Single nucleotide variant (nonsense +1 more)	DLD-related disorder	GUncertain significance
Select item 358564	NM_000108.5(DLD):c.74A>C (p.Gln25Pro)	DLD (Q25P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2674847	NM_000108.5(DLD):c.82dup (p.Ser28fs)	DLD (S28fs)	Duplication (frameshift variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GPathogenic/Likely pathogenic
Select item 1501609	NM_000108.5(DLD):c.79C>T (p.Leu27Phe)	DLD (L27F)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GUncertain significance
Select item 371579	NM_000108.5(DLD):c.82del (p.Ser28fs)	DLD (S28fs)	Deletion (frameshift variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 203683	NM_000108.5(DLD):c.82T>C (p.Ser28Pro)	DLD (S28P)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E3 deficiency +1 more	GUncertain significance
Select item 2871447	NM_000108.5(DLD):c.84T>C (p.Ser28=)	DLD	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2837689	NM_000108.5(DLD):c.84T>A (p.Ser28=)	DLD	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2364348	NM_000108.5(DLD):c.89T>C (p.Val30Ala)	DLD (V30A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1416869	NM_000108.5(DLD):c.92C>G (p.Pro31Arg)	DLD (P31R)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GUncertain significance
Select item 1081987	NM_000108.5(DLD):c.93T>C (p.Pro31=)	DLD	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 1146258	NM_000108.5(DLD):c.94C>T (p.Leu32=)	DLD	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 680924	NM_000108.5(DLD):c.96G>C (p.Leu32=)	DLD	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E3 deficiency +1 more	GLikely benign
Select item 203672	NM_000108.5(DLD):c.100A>G (p.Thr34Ala)	DLD (T34A)	Single nucleotide variant (missense variant +1 more)	Leigh syndrome +4 more	GUncertain significance
Select item 370072	NM_000108.5(DLD):c.104dup (p.Tyr35Ter)	DLD (Y35*)	Duplication (nonsense +1 more)	Pyruvate dehydrogenase E3 deficiency +1 more	GPathogenic
Select item 2715363	NM_000108.5(DLD):c.104del (p.Tyr35fs)	DLD (Y35fs)	Deletion (frameshift variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GPathogenic
Select item 2914891	NM_000108.5(DLD):c.105C>A (p.Tyr35Ter)	DLD (Y35*)	Single nucleotide variant (nonsense +1 more)	Pyruvate dehydrogenase E3 deficiency	GPathogenic
Select item 553084	NM_000108.5(DLD):c.105del (p.Thr34_Tyr35insTer)	DLD	Deletion (nonsense +1 more)	Pyruvate dehydrogenase E3 deficiency	GPathogenic/Likely pathogenic
Select item 421142	NM_000108.5(DLD):c.105C>G (p.Tyr35Ter)	DLD (Y35*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 255129	NM_000108.5(DLD):c.105C>T (p.Tyr35=)	DLD	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 2377350	NM_000108.5(DLD):c.106G>A (p.Ala36Thr)	DLD (A36T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2705260	NM_000108.5(DLD):c.108A>T (p.Ala36=)	DLD	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 1966106	NM_000108.5(DLD):c.108A>G (p.Ala36=)	DLD	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 370700	NM_000108.5(DLD):c.112C>T (p.Gln38Ter)	DLD (Q38*)	Single nucleotide variant (nonsense +1 more)	DLD-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 358565	NM_000108.5(DLD):c.116C>T (p.Pro39Leu)	DLD (P39L)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E3 deficiency +2 more	GUncertain significance
Select item 358566	NM_000108.5(DLD):c.117G>A (p.Pro39=)	DLD	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E3 deficiency +2 more	GUncertain significance
Select item 557660	NM_000108.5(DLD):c.118+1G>T	DLD	Single nucleotide variant (splice donor variant)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 1122813	NM_000108.5(DLD):c.118+10T>G	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2770226	NM_000108.5(DLD):c.118+11A>G	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2154708	NM_000108.5(DLD):c.118+12A>G	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GUncertain significance
Select item 3006219	NM_000108.5(DLD):c.118+13G>A	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2910776	NM_000108.5(DLD):c.118+18A>G	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2832411	NM_000108.5(DLD):c.118+19C>G	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2800118	NM_000108.5(DLD):c.118+19C>T	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 1211682	NM_000108.5(DLD):c.118+191C>T	DLD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268506	NM_000108.5(DLD):c.119-85G>A	DLD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196506	NM_000108.5(DLD):c.119-79T>G	DLD	Single nucleotide variant (intron variant)	not provided	GLikely benign

<< First< Prev

Page of 7