9439[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 154738	GRCh38/hg38 6q22.32-23.2(chr6:126494533-132497855)x1	AKAP7, ARG1 +127 more	Copy number loss	See cases	GLikely pathogenic
Select item 154269	GRCh38/hg38 6q22.33-23.2(chr6:129191313-132131620)x1	AKAP7, ARG1 +87 more	Copy number loss	See cases	GLikely pathogenic
Select item 151591	GRCh38/hg38 6q23.2(chr6:131477455-131596004)x3	ARG1, MED23	Copy number gain	See cases	GLikely benign
Select item 1300929	NM_000045.4(ARG1):c.58-293G>A	ARG1, MED23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2008247	NM_000045.4(ARG1):c.58-18T>C	ARG1, MED23	Single nucleotide variant (intron variant)	Arginase deficiency	GUncertain significance
Select item 1998230	NM_000045.4(ARG1):c.58-18T>A	ARG1, MED23	Single nucleotide variant (intron variant)	Arginase deficiency	GUncertain significance
Select item 1615914	NM_000045.4(ARG1):c.58-17A>G	ARG1, MED23	Single nucleotide variant (intron variant)	Arginase deficiency	GLikely benign
Select item 1558627	NM_000045.4(ARG1):c.58-17A>T	MED23, ARG1	Single nucleotide variant (intron variant)	Arginase deficiency	GLikely benign
Select item 2912554	NM_000045.4(ARG1):c.58-16T>C	ARG1, MED23	Single nucleotide variant (intron variant)	Arginase deficiency	GLikely benign
Select item 1650200	NM_000045.4(ARG1):c.58-13_58-11del	MED23, ARG1	Deletion (intron variant)	Arginase deficiency	GLikely benign
Select item 657915	NC_000006.12:g.(?_131576653)_(131583918_?)del	ARG1, MED23	Deletion	Arginase deficiency	GPathogenic
Select item 1996579	NM_000045.4(ARG1):c.58-8T>C	ARG1, MED23	Single nucleotide variant (intron variant)	Arginase deficiency	GUncertain significance
Select item 2821709	NM_000045.4(ARG1):c.58-2A>T	ARG1, MED23	Single nucleotide variant (splice acceptor variant +1 more)	Arginase deficiency	GLikely pathogenic
Select item 549899	NM_000045.4(ARG1):c.58-2A>C	MED23, ARG1	Single nucleotide variant (splice acceptor variant +1 more)	Arginase deficiency	GLikely pathogenic
Select item 1017390	NM_000045.4(ARG1):c.59C>T (p.Pro20Leu)	ARG1, MED23 (P20L)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency	GUncertain significance
Select item 1025000	NM_000045.4(ARG1):c.61C>G (p.Arg21Gly)	ARG1, MED23 (R21G)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2397	NM_000045.4(ARG1):c.61C>T (p.Arg21Ter)	ARG1, MED23 (R21*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 517018	NM_000045.4(ARG1):c.62G>A (p.Arg21Gln)	ARG1, MED23 (R21Q)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1144197	NM_000045.4(ARG1):c.63A>G (p.Arg21=)	ARG1, MED23	Single nucleotide variant (synonymous variant +1 more)	Arginase deficiency	GLikely benign
Select item 2678298	NM_000045.4(ARG1):c.70dup (p.Val24fs)	ARG1, MED23 (V24fs)	Duplication (frameshift variant +1 more)	Arginase deficiency	GLikely pathogenic
Select item 2151232	NM_000045.4(ARG1):c.67G>T (p.Gly23Trp)	ARG1, MED23 (G23W)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency	GUncertain significance
Select item 2090095	NM_000045.4(ARG1):c.69G>A (p.Gly23=)	ARG1, MED23	Single nucleotide variant (synonymous variant +1 more)	Arginase deficiency	GLikely benign
Select item 1409416	NM_000045.4(ARG1):c.70G>C (p.Val24Leu)	ARG1, MED23 (V24L)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency	GUncertain significance
Select item 1806599	NM_000045.4(ARG1):c.75A>C (p.Glu25Asp)	ARG1, MED23 (E25D)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 355318	NM_000045.4(ARG1):c.75A>G (p.Glu25=)	ARG1, MED23	Single nucleotide variant (synonymous variant +1 more)	Arginase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1381695	NM_000045.4(ARG1):c.76G>A (p.Glu26Lys)	ARG1, MED23 (E26K)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency	GUncertain significance
Select item 2387	NM_000045.4(ARG1):c.78del (p.Gly27fs)	ARG1, MED23 (G27fs)	Deletion (frameshift variant +1 more)	Arginase deficiency	GPathogenic
Select item 551041	NM_000045.4(ARG1):c.80G>A (p.Gly27Asp)	ARG1, MED23 (G27D)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency	GConflicting classifications of pathogenicity
Select item 1081736	NM_000045.4(ARG1):c.81C>T (p.Gly27=)	ARG1, MED23	Single nucleotide variant (synonymous variant +1 more)	Arginase deficiency	GLikely benign
Select item 374750	NM_000045.4(ARG1):c.83C>T (p.Pro28Leu)	ARG1, MED23 (P28L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2159170	NM_000045.4(ARG1):c.84T>C (p.Pro28=)	ARG1, MED23	Single nucleotide variant (synonymous variant +1 more)	Arginase deficiency	GLikely benign
Select item 2902222	NM_000045.4(ARG1):c.87A>C (p.Thr29=)	ARG1, MED23	Single nucleotide variant (synonymous variant +1 more)	Arginase deficiency	GLikely benign
Select item 1132373	NM_000045.4(ARG1):c.87A>G (p.Thr29=)	MED23, ARG1	Single nucleotide variant (synonymous variant +1 more)	Arginase deficiency	GLikely benign
Select item 2154336	NM_000045.4(ARG1):c.92T>G (p.Leu31Trp)	ARG1, MED23 (L31W)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency	GUncertain significance
Select item 1662697	NM_000045.4(ARG1):c.93G>A (p.Leu31=)	ARG1, MED23	Single nucleotide variant (synonymous variant +1 more)	Arginase deficiency	GLikely benign
Select item 1076486	NM_000045.4(ARG1):c.93del (p.Arg32fs)	MED23, ARG1 (R32fs)	Deletion (frameshift variant +1 more)	Arginase deficiency	GPathogenic
Select item 1474858	NM_000045.4(ARG1):c.100G>T (p.Ala34Ser)	ARG1, MED23 (A34S)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency	GUncertain significance
Select item 2671747	NM_000045.4(ARG1):c.103G>A (p.Gly35Ser)	ARG1, MED23 (G35S)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency	GUncertain significance
Select item 1936190	NM_000045.4(ARG1):c.104G>A (p.Gly35Asp)	ARG1, MED23 (G35D)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency	GUncertain significance
Select item 2995507	NM_000045.4(ARG1):c.111T>C (p.Leu37=)	ARG1, MED23	Single nucleotide variant (synonymous variant +1 more)	Arginase deficiency	GLikely benign
Select item 2483911	NM_000045.4(ARG1):c.119T>C (p.Leu40Pro)	ARG1, MED23 (L40P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2088412	NM_000045.4(ARG1):c.130+9_130+10insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGAACAAGGTAATTTTT	ARG1, MED23	Insertion (splice donor variant +1 more)	Arginase deficiency	GUncertain significance
Select item 554020	NM_000045.4(ARG1):c.124_126del (p.Glu42del)	ARG1, MED23 (E42del)	Deletion (intron variant)	Arginase deficiency	GUncertain significance
Select item 2018545	NM_000045.4(ARG1):c.124_125insT (p.Glu42fs)	ARG1, MED23 (E42fs)	Insertion (frameshift variant +1 more)	Arginase deficiency	GPathogenic
Select item 1385981	NM_000045.4(ARG1):c.124G>T (p.Glu42Ter)	ARG1, MED23 (E42*)	Single nucleotide variant (nonsense +1 more)	Arginase deficiency	GPathogenic
Select item 1930903	NM_000045.4(ARG1):c.128A>G (p.Gln43Arg)	ARG1, MED23 (Q43R)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency	GUncertain significance
Select item 557931	NM_000045.4(ARG1):c.129del (p.Glu44fs)	ARG1, MED23 (E44fs)	Deletion (frameshift variant +1 more)	Arginase deficiency	GPathogenic/Likely pathogenic
Select item 571672	NM_000045.4(ARG1):c.130G>C (p.Glu44Gln)	ARG1, MED23 (E44Q +1 more)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency	GUncertain significance
Select item 1427598	NM_000045.4(ARG1):c.130+1G>A	ARG1, MED23	Single nucleotide variant (splice donor variant +1 more)	Arginase deficiency +1 more	GPathogenic
Select item 555785	NM_000045.4(ARG1):c.130+1G>T	ARG1, MED23	Single nucleotide variant (splice donor variant +1 more)	Arginase deficiency	GLikely pathogenic
Select item 2115225	NM_000045.4(ARG1):c.130+8_130+9del	MED23, ARG1	Deletion (intron variant)	Arginase deficiency	GLikely benign
Select item 1574955	NM_000045.4(ARG1):c.130+10_130+13dup	MED23, ARG1	Duplication (intron variant)	Arginase deficiency	GLikely benign
Select item 1568314	NM_000045.4(ARG1):c.130+11A>G	ARG1, MED23	Single nucleotide variant (intron variant)	Arginase deficiency	GLikely benign
Select item 2813080	NM_000045.4(ARG1):c.130+20del	ARG1, MED23	Deletion (intron variant)	Arginase deficiency	GBenign
Select item 1234521	NM_000045.4(ARG1):c.131-265C>T	ARG1, MED23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292142	NM_000045.4(ARG1):c.131-107G>A	ARG1, MED23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224225	NM_000045.4(ARG1):c.131-106C>T	MED23, ARG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2864370	NM_000045.4(ARG1):c.131-19C>G	ARG1, MED23 (Q46E)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency	GLikely benign
Select item 2837007	NM_000045.4(ARG1):c.131-14C>T	ARG1, MED23	Single nucleotide variant (synonymous variant +1 more)	Arginase deficiency	GLikely benign
Select item 558164	NM_000045.4(ARG1):c.131-9dup	ARG1, MED23 (L49fs)	Duplication (frameshift variant +1 more)	Arginase deficiency	GUncertain significance
Select item 1504779	NM_000045.4(ARG1):c.131-10_131-9del	ARG1, MED23 (L49fs)	Deletion (frameshift variant +1 more)	Arginase deficiency	GUncertain significance
Select item 552641	NM_000045.4(ARG1):c.131-7_131-2del	ARG1, MED23	Deletion (splice acceptor variant +1 more)	Arginase deficiency	GUncertain significance
Select item 384199	NM_000045.4(ARG1):c.131-11T>C	ARG1, MED23	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2744200	NM_000045.4(ARG1):c.131-9T>A	ARG1, MED23 (L49*)	Single nucleotide variant (nonsense +1 more)	Arginase deficiency	GLikely benign
Select item 2050638	NM_000045.4(ARG1):c.131-9T>C	ARG1, MED23 (L49S)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency	GLikely benign
Select item 2678250	NM_000045.4(ARG1):c.131-8_131-2del	ARG1, MED23 (I50fs)	Deletion (frameshift variant +2 more)	Arginase deficiency	GLikely pathogenic
Select item 2069759	NM_000045.4(ARG1):c.131-4T>A	ARG1, MED23 (L51I)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency	GLikely benign
Select item 2831245	NM_000045.4(ARG1):c.131-1G>T	ARG1, MED23 (E52*)	Single nucleotide variant (nonsense +2 more)	Arginase deficiency	GLikely pathogenic
Select item 837901	NM_000045.4(ARG1):c.131-1G>C	ARG1, MED23 (E52Q)	Single nucleotide variant (missense variant +2 more)	Arginase deficiency	GLikely pathogenic
Select item 1077974	NM_000045.4(ARG1):c.135T>C (p.Cys45=)	ARG1, MED23	Single nucleotide variant (synonymous variant +2 more)	Arginase deficiency	GLikely benign
Select item 1446195	NM_000045.4(ARG1):c.136G>A (p.Asp46Asn)	ARG1, MED23 (D54N +1 more)	Single nucleotide variant (missense variant +2 more)	Arginase deficiency	GUncertain significance
Select item 1724169	NM_000045.4(ARG1):c.140_141del (p.Val47fs)	ARG1, MED23 (V47fs +1 more)	Microsatellite (frameshift variant +2 more)	Arginase deficiency	GLikely pathogenic
Select item 2846330	NM_000045.4(ARG1):c.141G>A (p.Val47=)	ARG1, MED23	Single nucleotide variant (synonymous variant +2 more)	Arginase deficiency	GLikely benign
Select item 1724217	NM_000045.4(ARG1):c.143_146del (p.Lys48fs)	ARG1, MED23 (K48fs +1 more)	Deletion (frameshift variant +2 more)	Arginase deficiency	GLikely pathogenic
Select item 847351	NM_000045.4(ARG1):c.142A>T (p.Lys48Ter)	ARG1, MED23 (K56* +1 more)	Single nucleotide variant (nonsense +2 more)	Arginase deficiency	GPathogenic
Select item 2899668	NM_000045.4(ARG1):c.144G>A (p.Lys48=)	ARG1, MED23	Single nucleotide variant (synonymous variant +2 more)	Arginase deficiency	GLikely benign
Select item 1726888	NM_000045.4(ARG1):c.145_146insC (p.Asp49fs)	ARG1, MED23 (D49fs +1 more)	Insertion (frameshift variant +2 more)	Arginase deficiency	GLikely pathogenic
Select item 1634833	NM_000045.4(ARG1):c.147T>C (p.Asp49=)	ARG1, MED23	Single nucleotide variant (synonymous variant +2 more)	Arginase deficiency	GLikely benign
Select item 1724081	NM_000045.4(ARG1):c.148_149insTTATGTAGTGCAAC (p.Tyr50delinsPheMetTer)	ARG1, MED23	Insertion (nonsense +2 more)	Arginase deficiency	GLikely pathogenic
Select item 799999	NM_000045.4(ARG1):c.150T>C (p.Tyr50=)	ARG1, MED23	Single nucleotide variant (synonymous variant +2 more)	Arginase deficiency	GLikely benign
Select item 1420928	NM_000045.4(ARG1):c.153G>T (p.Gly51=)	ARG1, MED23	Single nucleotide variant (synonymous variant +2 more)	Arginase deficiency	GLikely benign
Select item 2129477	NM_000045.4(ARG1):c.159_163del (p.Pro54fs)	MED23, ARG1 (P54fs +1 more)	Deletion (frameshift variant +2 more)	Arginase deficiency	GPathogenic
Select item 1999814	NM_000045.4(ARG1):c.157del (p.Leu53fs)	ARG1, MED23 (L53fs +1 more)	Deletion (frameshift variant +2 more)	Arginase deficiency	GPathogenic
Select item 2120801	NM_000045.4(ARG1):c.157C>T (p.Leu53=)	ARG1, MED23	Single nucleotide variant (synonymous variant +2 more)	Arginase deficiency	GLikely benign
Select item 2153080	NM_000045.4(ARG1):c.159G>T (p.Leu53=)	ARG1, MED23	Single nucleotide variant (synonymous variant +2 more)	Arginase deficiency	GLikely benign
Select item 1964095	NM_000045.4(ARG1):c.159G>A (p.Leu53=)	ARG1, MED23	Single nucleotide variant (synonymous variant +2 more)	Arginase deficiency	GLikely benign
Select item 1995320	NM_000045.4(ARG1):c.162C>T (p.Pro54=)	ARG1, MED23	Single nucleotide variant (synonymous variant +2 more)	Arginase deficiency	GLikely benign
Select item 2124660	NM_000045.4(ARG1):c.168T>A (p.Ala56=)	ARG1, MED23	Single nucleotide variant (synonymous variant +2 more)	Arginase deficiency	GLikely benign
Select item 2747906	NM_000045.4(ARG1):c.171C>T (p.Asp57=)	ARG1, MED23	Single nucleotide variant (synonymous variant +2 more)	Arginase deficiency	GLikely benign
Select item 1607447	NM_000045.4(ARG1):c.177T>A (p.Pro59=)	MED23, ARG1	Single nucleotide variant (synonymous variant +2 more)	Arginase deficiency	GLikely benign
Select item 1726867	NM_000045.4(ARG1):c.182_184delinsG (p.Asp61fs)	ARG1, MED23 (D61fs +1 more)	Indel (frameshift variant +2 more)	Arginase deficiency	GLikely pathogenic
Select item 1137216	NM_000045.4(ARG1):c.183C>T (p.Asp61=)	ARG1, MED23	Single nucleotide variant (synonymous variant +2 more)	Arginase deficiency	GLikely benign
Select item 1427553	NM_000045.4(ARG1):c.187C>G (p.Pro63Ala)	ARG1, MED23 (P63A +1 more)	Single nucleotide variant (missense variant +2 more)	Arginase deficiency	GUncertain significance
Select item 578126	NM_000045.4(ARG1):c.189del (p.Gln65fs)	ARG1, MED23 (Q65fs +1 more)	Deletion (frameshift variant +2 more)	Arginase deficiency	GPathogenic
Select item 1609290	NM_000045.4(ARG1):c.189C>G (p.Pro63=)	ARG1, MED23	Single nucleotide variant (synonymous variant +2 more)	Arginase deficiency	GLikely benign
Select item 3372640	NM_000045.4(ARG1):c.196A>G (p.Ile66Val)	ARG1, MED23 (I66V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1144237	NM_000045.4(ARG1):c.198T>C (p.Ile66=)	ARG1, MED23	Single nucleotide variant (synonymous variant +2 more)	Arginase deficiency	GLikely benign

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