6125[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 309

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LOC129930966, LOC129930967 +548 more	Copy number gain	See cases	GPathogenic
Select item 151368	GRCh38/hg38 1p22.1(chr1:92490929-93507291)x1	CCDC18, CCDC18-AS1 +39 more	Copy number loss	See cases	GPathogenic
Select item 57785	GRCh38/hg38 1p22.1(chr1:92807868-92842656)x3	DIPK1A, LOC129930939 +3 more	Copy number gain	See cases	GUncertain significance
Select item 1270571	NR_146333.1(RPL5):n.15C>A	RPL5	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 873660	NM_000969.5(RPL5):c.-74C>A	RPL5	Single nucleotide variant (5 prime UTR variant +1 more)	Diamond-Blackfan anemia 6	GUncertain significance
Select item 298196	NM_000969.5(RPL5):c.-70T>A	RPL5	Single nucleotide variant (5 prime UTR variant +1 more)	Diamond-Blackfan anemia 6	GUncertain significance
Select item 873661	NM_000969.5(RPL5):c.-64C>G	RPL5	Single nucleotide variant (5 prime UTR variant +1 more)	Diamond-Blackfan anemia 6	GUncertain significance
Select item 298197	NM_000969.5(RPL5):c.-62C>G	RPL5	Single nucleotide variant (5 prime UTR variant +1 more)	Diamond-Blackfan anemia 6	GLikely benign
Select item 298198	NM_000969.5(RPL5):c.-58G>T	RPL5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 298199	NM_000969.5(RPL5):c.-55C>G	RPL5	Single nucleotide variant (5 prime UTR variant +1 more)	Diamond-Blackfan anemia 6 +1 more	GBenign
Select item 298200	NM_000969.5(RPL5):c.-52C>G	RPL5	Single nucleotide variant (5 prime UTR variant +1 more)	Diamond-Blackfan anemia 6	GBenign
Select item 298201	NM_000969.5(RPL5):c.-48G>A	RPL5	Single nucleotide variant (5 prime UTR variant +1 more)	Diamond-Blackfan anemia 6	GBenign
Select item 625274	NM_000969.5(RPL5):c.-46C>A	RPL5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	Gnot provided
Select item 298202	NM_000969.5(RPL5):c.-46C>G	RPL5	Single nucleotide variant (5 prime UTR variant +1 more)	Diamond-Blackfan anemia 6	GUncertain significance
Select item 298203	NM_000969.5(RPL5):c.-42A>C	RPL5	Single nucleotide variant (5 prime UTR variant +1 more)	Diamond-Blackfan anemia 6	GBenign
Select item 298204	NM_000969.5(RPL5):c.-38C>T	RPL5	Single nucleotide variant (5 prime UTR variant +1 more)	Diamond-Blackfan anemia 6	GLikely benign
Select item 298205	NM_000969.5(RPL5):c.-18C>A	RPL5	Single nucleotide variant (5 prime UTR variant +1 more)	Diamond-Blackfan anemia 6	GBenign
Select item 532183	NC_000001.11:g.(?_92832109)_(92833666_?)del	DIPK1A, RPL5	Deletion	Diamond-Blackfan anemia	GPathogenic
Select item 298206	NM_000969.5(RPL5):c.-6C>T	RPL5	Single nucleotide variant (5 prime UTR variant +1 more)	Diamond-Blackfan anemia 6 +1 more	GLikely benign
Select item 298207	NM_000969.5(RPL5):c.-2G>A	RPL5	Single nucleotide variant (5 prime UTR variant +1 more)	Diamond-Blackfan anemia 6	GUncertain significance
Select item 1700812	NM_000969.5(RPL5):c.1A>G (p.Met1Val)	RPL5 (M1V)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 1069070	NM_000969.5(RPL5):c.1A>C (p.Met1Leu)	RPL5 (M1L)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia	GPathogenic
Select item 2202776	NM_000969.5(RPL5):c.2T>G (p.Met1Arg)	RPL5 (M1R)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia	GPathogenic
Select item 1736900	NM_000969.5(RPL5):c.3G>A (p.Met1Ile)	RPL5 (M1I)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia	GPathogenic
Select item 1803120	NM_000969.5(RPL5):c.3+1G>A	RPL5	Single nucleotide variant (splice donor variant)	Diamond-Blackfan anemia 6	GPathogenic/Likely pathogenic
Select item 1911206	NM_000969.5(RPL5):c.3+3G>A	RPL5	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 1420907	NM_000969.5(RPL5):c.3+3G>T	RPL5	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 281749	NM_000969.5(RPL5):c.3+3G>C	RPL5	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 1 +5 more	GBenign/Likely benign
Select item 2711753	NM_000969.5(RPL5):c.3+5G>C	RPL5	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 2098046	NM_000969.5(RPL5):c.3+5G>A	RPL5	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 1337202	NM_000969.5(RPL5):c.3+11G>A	RPL5	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 874647	NM_000969.5(RPL5):c.3+11G>C	RPL5	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 6 +1 more	GConflicting classifications of pathogenicity
Select item 875587	NM_000969.5(RPL5):c.3+12C>T	RPL5	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 6 +1 more	GBenign/Likely benign
Select item 298208	NM_000969.5(RPL5):c.3+13C>T	RPL5	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia +1 more	GBenign/Likely benign
Select item 2145168	NM_000969.5(RPL5):c.3+18T>G	RPL5	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2709182	NM_000969.5(RPL5):c.3+19C>G	RPL5	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2718547	NM_000969.5(RPL5):c.4-17A>T	DIPK1A, RPL5	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1066757	NM_000969.5(RPL5):c.4-10T>A	RPL5, DIPK1A	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely pathogenic
Select item 875588	NM_000969.5(RPL5):c.4-10T>C	RPL5, DIPK1A	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 6	GUncertain significance
Select item 570802	NM_000969.5(RPL5):c.4-7_4-4del	DIPK1A, RPL5	Deletion (intron variant)	Diamond-Blackfan anemia	GPathogenic
Select item 2192199	NM_000969.5(RPL5):c.4-9T>C	RPL5, DIPK1A	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 3021892	NM_000969.5(RPL5):c.4-7C>T	DIPK1A, RPL5	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1154325	NM_000969.5(RPL5):c.4-7del	RPL5, DIPK1A	Deletion (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1578402	NM_000969.5(RPL5):c.4-4T>C	DIPK1A, RPL5	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 6 +1 more	GLikely benign
Select item 2915334	NM_000969.5(RPL5):c.4-1G>A	DIPK1A, RPL5	Single nucleotide variant (splice acceptor variant +1 more)	Diamond-Blackfan anemia	GLikely pathogenic
Select item 2995719	NM_000969.5(RPL5):c.6G>A (p.Gly2=)	DIPK1A, RPL5	Single nucleotide variant (synonymous variant +2 more)	Diamond-Blackfan anemia	GLikely benign
Select item 842399	NM_000969.5(RPL5):c.9_12del (p.Phe3fs)	DIPK1A, RPL5 (F3fs)	Deletion (frameshift variant +2 more)	Diamond-Blackfan anemia	GPathogenic
Select item 851814	NM_000969.5(RPL5):c.15dup (p.Val6fs)	DIPK1A, RPL5 (V6fs)	Duplication (frameshift variant +2 more)	Diamond-Blackfan anemia	GPathogenic
Select item 1111490	NM_000969.5(RPL5):c.18T>A (p.Val6=)	DIPK1A, RPL5	Single nucleotide variant (synonymous variant +2 more)	Diamond-Blackfan anemia	GLikely benign
Select item 1789249	NM_000969.5(RPL5):c.22A>T (p.Lys8Ter)	DIPK1A, RPL5 (K8*)	Single nucleotide variant (nonsense +2 more)	Diamond-Blackfan anemia	GPathogenic
Select item 1794904	NM_000969.5(RPL5):c.26del (p.Asn9fs)	DIPK1A, RPL5 (N9fs)	Deletion (frameshift variant +2 more)	Diamond-Blackfan anemia	GPathogenic
Select item 948744	NM_000969.5(RPL5):c.35A>G (p.Tyr12Cys)	DIPK1A, RPL5 (Y12C)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 985952	NM_000969.5(RPL5):c.41del (p.Lys14fs)	DIPK1A, RPL5 (K14fs)	Deletion (frameshift variant +2 more)	Inborn genetic diseases	GPathogenic
Select item 2503388	NM_000969.5(RPL5):c.46_47del (p.Tyr16fs)	DIPK1A, RPL5 (Y16fs)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 1743930	NM_000969.5(RPL5):c.48C>A (p.Tyr16Ter)	DIPK1A, RPL5 (Y16*)	Single nucleotide variant (nonsense +2 more)	Diamond-Blackfan anemia	GPathogenic
Select item 664540	NM_000969.5(RPL5):c.48C>G (p.Tyr16Ter)	DIPK1A, RPL5 (Y16*)	Single nucleotide variant (nonsense +2 more)	Diamond-Blackfan anemia	GPathogenic
Select item 1746004	NM_000969.5(RPL5):c.51A>G (p.Gln17=)	DIPK1A, RPL5	Single nucleotide variant (synonymous variant +2 more)	Diamond-Blackfan anemia	GLikely benign
Select item 1751601	NM_000969.5(RPL5):c.60del (p.Phe20fs)	DIPK1A, RPL5 (F20fs)	Deletion (frameshift variant +2 more)	Diamond-Blackfan anemia	GPathogenic
Select item 6179	NM_000969.5(RPL5):c.67C>T (p.Arg23Ter)	DIPK1A, RPL5 (R23*)	Single nucleotide variant (nonsense +2 more)	Diamond-Blackfan anemia +1 more	GPathogenic
Select item 2430596	NM_000969.5(RPL5):c.68G>A (p.Arg23Gln)	DIPK1A, RPL5 (R23Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 572903	NM_000969.5(RPL5):c.70C>T (p.Arg24Ter)	DIPK1A, RPL5 (R24*)	Single nucleotide variant (nonsense +2 more)	Diamond-Blackfan anemia	GPathogenic
Select item 2730891	NM_000969.5(RPL5):c.71del (p.Arg24fs)	DIPK1A, RPL5 (R24fs)	Deletion (frameshift variant +2 more)	Diamond-Blackfan anemia	GPathogenic
Select item 2018732	NM_000969.5(RPL5):c.72A>G (p.Arg24=)	DIPK1A, RPL5	Single nucleotide variant (synonymous variant +2 more)	Diamond-Blackfan anemia 6 +1 more	GConflicting classifications of pathogenicity
Select item 520995	NM_000969.5(RPL5):c.73+1G>A	DIPK1A, RPL5	Single nucleotide variant (splice donor variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 6184	NM_000969.5(RPL5):c.73+2T>G	DIPK1A, RPL5	Single nucleotide variant (splice donor variant +1 more)	Diamond-Blackfan anemia 6	GPathogenic
Select item 2631122	NM_000969.5(RPL5):c.73+4C>G	DIPK1A, RPL5	Single nucleotide variant (intron variant)	RPL5-related disorder	GUncertain significance
Select item 2079538	NM_000969.5(RPL5):c.73+9dup	DIPK1A, RPL5	Duplication (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2770706	NM_000969.5(RPL5):c.73+10C>T	DIPK1A, RPL5	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1558320	NM_000969.5(RPL5):c.74-15_74-13del	DIPK1A, RPL5	Microsatellite (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2900360	NM_000969.5(RPL5):c.74-8dup	DIPK1A, RPL5	Duplication (intron variant)	Diamond-Blackfan anemia	GBenign
Select item 2901879	NM_000969.5(RPL5):c.74-7C>T	DIPK1A, RPL5	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2033977	NM_000969.5(RPL5):c.74-2del	DIPK1A, RPL5	Deletion (splice acceptor variant +1 more)	Diamond-Blackfan anemia	GLikely pathogenic
Select item 1513641	NM_000969.5(RPL5):c.74-2A>G	RPL5, DIPK1A	Single nucleotide variant (splice acceptor variant +1 more)	Diamond-Blackfan anemia	GLikely pathogenic
Select item 870662	NM_000969.5(RPL5):c.74-1G>A	DIPK1A, RPL5	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GPathogenic
Select item 523383	NM_000969.5(RPL5):c.74-1G>C	DIPK1A, RPL5	Single nucleotide variant (splice acceptor variant +1 more)	Hepatomegaly +16 more	GPathogenic
Select item 2743358	NM_000969.5(RPL5):c.78T>G (p.Gly26=)	DIPK1A, RPL5	Single nucleotide variant (synonymous variant +2 more)	Diamond-Blackfan anemia	GLikely benign
Select item 1763241	NM_000969.5(RPL5):c.83del (p.Thr28fs)	DIPK1A, RPL5 (T28fs)	Deletion (frameshift variant +2 more)	Diamond-Blackfan anemia	GPathogenic
Select item 2633707	NM_000969.5(RPL5):c.89_107del (p.Tyr30fs)	DIPK1A, RPL5 (Y30fs)	Deletion (frameshift variant +2 more)	RPL5-related disorder	GLikely pathogenic
Select item 1766492	NM_000969.5(RPL5):c.92dup (p.Tyr31Ter)	DIPK1A, RPL5 (Y31*)	Duplication (nonsense +2 more)	Diamond-Blackfan anemia	GPathogenic
Select item 988012	NM_000969.5(RPL5):c.103C>T (p.Arg35Cys)	DIPK1A, RPL5 (R35C)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia 6 +1 more	GUncertain significance
Select item 1690417	NM_000969.5(RPL5):c.110_111dup (p.Ile38Ter)	DIPK1A, RPL5 (I38*)	Duplication (nonsense +2 more)	See cases	GLikely pathogenic
Select item 2766031	NM_000969.5(RPL5):c.115_121del (p.Gln39fs)	DIPK1A, RPL5 (Q39fs)	Deletion (frameshift variant +2 more)	Diamond-Blackfan anemia	GPathogenic
Select item 523014	NM_000969.5(RPL5):c.118G>A (p.Asp40Asn)	DIPK1A, RPL5 (D40N)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia 6	GUncertain significance
Select item 1527850	NM_000969.5(RPL5):c.122_144del (p.Lys41fs)	DIPK1A, RPL5 (K41fs)	Deletion (frameshift variant +2 more)	Diamond-Blackfan anemia 6	GLikely pathogenic
Select item 411871	NM_000969.5(RPL5):c.132C>G (p.Tyr44Ter)	DIPK1A, RPL5 (Y44*)	Single nucleotide variant (nonsense +2 more)	Diamond-Blackfan anemia	GPathogenic
Select item 2199704	NM_000969.5(RPL5):c.138A>C (p.Thr46=)	RPL5, DIPK1A	Single nucleotide variant (synonymous variant +2 more)	Diamond-Blackfan anemia	GLikely benign
Select item 1154245	NM_000969.5(RPL5):c.141C>T (p.Pro47=)	DIPK1A, RPL5	Single nucleotide variant (synonymous variant +2 more)	Diamond-Blackfan anemia +1 more	GLikely benign
Select item 986865	NM_000969.5(RPL5):c.143_146del (p.Lys48fs)	RPL5, DIPK1A (K48fs)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 1325015	NM_000969.5(RPL5):c.155_156dup (p.Val53Ter)	DIPK1A, RPL5 (V53*)	Duplication (nonsense +2 more)	Diamond-Blackfan anemia 6	GLikely pathogenic
Select item 1074389	NM_000969.5(RPL5):c.153del (p.Met51fs)	DIPK1A, RPL5 (M51fs)	Deletion (frameshift variant +2 more)	Diamond-Blackfan anemia	GPathogenic
Select item 649954	NM_000969.5(RPL5):c.157_169dup (p.Asn57fs)	DIPK1A, RPL5 (N57fs)	Duplication (frameshift variant +2 more)	Diamond-Blackfan anemia	GPathogenic
Select item 701602	NM_000969.5(RPL5):c.156A>C (p.Ile52=)	DIPK1A, RPL5	Single nucleotide variant (synonymous variant +2 more)	Diamond-Blackfan anemia	GLikely benign
Select item 2761597	NM_000969.5(RPL5):c.161G>C (p.Arg54Pro)	DIPK1A, RPL5 (R54P)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 238196	NM_000969.5(RPL5):c.165G>A (p.Val55=)	DIPK1A, RPL5	Single nucleotide variant (synonymous variant +2 more)	not specified +3 more	GBenign/Likely benign
Select item 579583	NM_000969.5(RPL5):c.169_172del (p.Asn57fs)	DIPK1A, RPL5 (N57fs)	Deletion (frameshift variant +2 more)	not provided +3 more	GPathogenic
Select item 532179	NM_000969.5(RPL5):c.170A>G (p.Asn57Ser)	DIPK1A, RPL5 (N57S)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 662012	NM_000969.5(RPL5):c.175_176del (p.Asp59fs)	DIPK1A, RPL5 (D59fs)	Microsatellite (frameshift variant +2 more)	Diamond-Blackfan anemia 6 +1 more	GPathogenic
Select item 2202777	NM_000969.5(RPL5):c.173del (p.Arg58fs)	DIPK1A, RPL5 (R58fs)	Deletion (frameshift variant +2 more)	Diamond-Blackfan anemia	GPathogenic
Select item 1779974	NM_000969.5(RPL5):c.178_179del (p.Ile60fs)	DIPK1A, RPL5 (I60fs)	Microsatellite (frameshift variant +2 more)	Diamond-Blackfan anemia 6 +1 more	GPathogenic/Likely pathogenic
Select item 2156930	NM_000969.5(RPL5):c.179T>C (p.Ile60Thr)	DIPK1A, RPL5 (I60T)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia	GUncertain significance

<< First< Prev

Page of 4