Related gene-specific medical variations for Gene (Select 1742) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3373502	NM_001321075.3(DLG4):c.869_874dup (p.Pro291_Arg292insProPro)	DLG4, LOC126862479	Duplication (non-coding transcript variant)	not provided	GUncertain significance
Select item 3365149	NM_001365.5(DLG4):c.25A>G (p.Arg9Gly)	ACADVL, DLG4 (R9G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3362187	NM_001321075.3(DLG4):c.2141C>G (p.Pro714Arg)	DLG4 (P654R +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3361230	NM_001321075.3(DLG4):c.1697C>A (p.Thr566Lys)	DLG4 (T506K +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359684	NM_001321075.3(DLG4):c.1808A>G (p.Gln603Arg)	DLG4 (Q543R +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359640	NM_001365.5(DLG4):c.125T>G (p.Leu42Arg)	ACADVL, DLG4 (L42R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3357092	NM_001270447.2(ACADVL):c.24G>A (p.Ala8=)	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +2 more)	ACADVL-related disorder	GLikely benign
Select item 3343412	NM_001321075.3(DLG4):c.1163T>C (p.Ile388Thr)	DLG4, LOC126862479 (I328T +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3341137	NM_001321075.3(DLG4):c.1866+1G>T	DLG4	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3254753	NM_001321075.3(DLG4):c.1186+2T>G	DLG4, LOC126862479	Single nucleotide variant (splice donor variant)	Intellectual developmental disorder 62	GLikely pathogenic
Select item 3236621	NM_001321075.3(DLG4):c.1420C>T (p.Arg474Trp)	DLG4 (R414W +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder 62	GUncertain significance
Select item 3236563	NM_001321075.3(DLG4):c.1947del (p.Phe649fs)	DLG4 (F589fs +5 more)	Deletion (frameshift variant)	Intellectual developmental disorder 62	GLikely pathogenic
Select item 3082787	NM_001321075.3(DLG4):c.1216G>A (p.Asp406Asn)	LOC126862479, DLG4 (D346N +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3082786	NM_001321075.3(DLG4):c.1165A>T (p.Ile389Phe)	DLG4, LOC126862479 (I362F +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3082785	NM_001321075.3(DLG4):c.925C>G (p.Arg309Gly)	LOC126862479, DLG4 (R249G +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3082784	NM_001321075.3(DLG4):c.890T>C (p.Val297Ala)	DLG4, LOC126862479 (V270A +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3082783	NM_001321075.3(DLG4):c.878G>A (p.Arg293His)	DLG4, LOC126862479 (R266H +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3064037	NM_001321075.3(DLG4):c.910del (p.Glu304fs)	DLG4, LOC126862479 (E244fs +5 more)	Deletion (frameshift variant +1 more)	Intellectual developmental disorder 62	Gnot provided
Select item 3059602	NM_001270447.2(ACADVL):c.132-277G>A	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +2 more)	ACADVL-related disorder	GLikely benign
Select item 2995643	NM_000018.4(ACADVL):c.51C>G (p.Leu17=)	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2980072	NM_000018.4(ACADVL):c.40C>G (p.Leu14Val)	ACADVL, DLG4 (L14V)	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 2817760	NM_000018.4(ACADVL):c.27C>T (p.Ser9=)	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2751868	NM_000018.4(ACADVL):c.24G>A (p.Ala8=)	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2695874	NM_000018.4(ACADVL):c.62+2T>C	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2647321	NM_001365.5(DLG4):c.94A>G (p.Ser32Gly)	ACADVL, DLG4 (S32G)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2637940	NM_001321075.3(DLG4):c.782C>G (p.Thr261Arg)	DLG4 (T201R +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder 62	GUncertain significance
Select item 2630677	NM_001321075.3(DLG4):c.938G>A (p.Arg313Gln)	DLG4, LOC126862479 (R253Q +5 more)	Single nucleotide variant (missense variant +1 more)	DLG4-related disorder	GUncertain significance
Select item 2608542	NM_000018.4(ACADVL):c.38A>T (p.Gln13Leu)	ACADVL, DLG4 (Q13L)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2577802	NM_001365.5(DLG4):c.119A>T (p.Asp40Val)	ACADVL, DLG4 (D40V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2575985	NM_001321075.3(DLG4):c.1141A>G (p.Asn381Asp)	DLG4, LOC126862479 (N321D +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2573993	NM_001321075.3(DLG4):c.1176T>G (p.Tyr392Ter)	DLG4, LOC126862479 (Y332* +5 more)	Single nucleotide variant (nonsense +1 more)	Intellectual developmental disorder 62	GPathogenic
Select item 2573466	NM_001321075.3(DLG4):c.851C>T (p.Thr284Ile)	DLG4, LOC126862479 (T224I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2573015	NM_001321075.3(DLG4):c.1696dup (p.Thr566fs)	DLG4 (T506fs +5 more)	Duplication (frameshift variant +1 more)	Intellectual developmental disorder 62	GPathogenic
Select item 2498095	NM_001321075.3(DLG4):c.1295_1301+10del	DLG4, LOC126862479	Deletion (splice donor variant)	Intellectual developmental disorder 62	GPathogenic
Select item 2498094	NM_001321075.3(DLG4):c.1000G>A (p.Glu334Lys)	DLG4, LOC126862479 (E274K +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder 62	GUncertain significance
Select item 2498093	NM_001321075.3(DLG4):c.974dup (p.Asn326fs)	DLG4, LOC126862479 (N266fs +5 more)	Duplication (frameshift variant +1 more)	Intellectual developmental disorder 62	GPathogenic
Select item 2498092	NM_001321075.3(DLG4):c.937C>T (p.Arg313Ter)	DLG4, LOC126862479 (R253* +5 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +1 more	GPathogenic
Select item 2498091	NM_001321075.3(DLG4):c.932del (p.Pro311fs)	LOC126862479, DLG4 (P251fs +5 more)	Deletion (frameshift variant +1 more)	Intellectual developmental disorder 62	GPathogenic
Select item 2498090	NM_001321075.3(DLG4):c.863C>T (p.Pro288Leu)	DLG4, LOC126862479 (P228L +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder 62	GUncertain significance
Select item 2498089	NM_001321075.3(DLG4):c.796C>T (p.Gln266Ter)	LOC126862479, DLG4 (Q206* +5 more)	Single nucleotide variant (nonsense +1 more)	Intellectual developmental disorder 62	GPathogenic
Select item 2481262	NM_000018.4(ACADVL):c.35G>A (p.Arg12Gln)	ACADVL, DLG4 (R12Q)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2440808	NM_001321075.3(DLG4):c.843C>A (p.Asp281Glu)	DLG4, LOC126862479 (D221E +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2440807	NM_001321075.3(DLG4):c.1462A>G (p.Ile488Val)	DLG4 (I428V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2440806	NM_001321075.3(DLG4):c.1234A>C (p.Met412Leu)	DLG4, LOC126862479 (M352L +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2431848	NM_001365.5(DLG4):c.159+13G>A	ACADVL, DLG4	Single nucleotide variant (intron variant)	Intellectual developmental disorder 62	GUncertain significance
Select item 2428699	NM_001365.5(DLG4):c.159+455G>T	ACADVL, DLG4	Single nucleotide variant (synonymous variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GBenign
Select item 2388480	NM_001321075.3(DLG4):c.1004G>T (p.Gly335Val)	DLG4, LOC126862479 (G275V +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2285545	NM_001365.5(DLG4):c.154_155del (p.Gln53fs)	ACADVL, DLG4 (Q53fs)	Microsatellite (frameshift variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2264869	NM_001321075.3(DLG4):c.1240del (p.Ser414fs)	DLG4, LOC126862479 (S354fs +5 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 2163945	NM_000018.4(ACADVL):c.26G>C (p.Ser9Thr)	ACADVL, DLG4 (S9T)	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 2149984	NM_000018.4(ACADVL):c.9G>A (p.Ala3=)	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2146837	NM_000018.4(ACADVL):c.59G>A (p.Gly20Glu)	ACADVL, DLG4 (G20E)	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 2135798	NM_000018.4(ACADVL):c.57C>G (p.Gly19=)	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 2093923	NM_000018.4(ACADVL):c.62+1G>T	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2053220	NM_000018.4(ACADVL):c.56G>T (p.Gly19Val)	ACADVL, DLG4 (G19V)	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 2045321	NM_000018.4(ACADVL):c.9G>C (p.Ala3=)	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2011730	NM_000018.4(ACADVL):c.4C>T (p.Gln2Ter)	ACADVL, DLG4 (Q2*)	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 1986204	NM_000018.4(ACADVL):c.17T>C (p.Met6Thr)	ACADVL, DLG4 (M6T)	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 1977648	NM_000018.4(ACADVL):c.18G>A (p.Met6Ile)	ACADVL, DLG4 (M6I)	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 1969877	NM_000018.4(ACADVL):c.58G>T (p.Gly20Ter)	ACADVL, DLG4 (G20*)	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 1915930	NM_000018.4(ACADVL):c.8C>T (p.Ala3Val)	ACADVL, DLG4 (A3V)	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 1895388	NM_001365.5(DLG4):c.2T>G (p.Met1Arg)	ACADVL, DLG4 (M1R)	Single nucleotide variant (missense variant +3 more)	Intellectual developmental disorder 62	GUncertain significance
Select item 1805210	NM_001321075.3(DLG4):c.10_13del (p.Leu4fs)	ACADVL, DLG4 (L4fs)	Deletion (frameshift variant +2 more)	Intellectual developmental disorder 62	GLikely pathogenic
Select item 1803960	NM_001321075.3(DLG4):c.981_982dup (p.Val328fs)	DLG4, LOC126862479 (V268fs +5 more)	Duplication (frameshift variant +1 more)	Intellectual developmental disorder 62	GPathogenic
Select item 1696691	NM_001321075.3(DLG4):c.740G>A (p.Ser247Asn)	DLG4 (S187N +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder 62	GUncertain significance
Select item 1686632	NM_001321075.3(DLG4):c.1271G>A (p.Arg424Gln)	DLG4, LOC126862479 (R364Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1679709	NM_001321075.3(DLG4):c.96+6C>A	DLG4	Single nucleotide variant (intron variant)	Intellectual developmental disorder 62	GUncertain significance
Select item 1676574	NM_001365.5(DLG4):c.109G>A (p.Ala37Thr)	ACADVL, DLG4 (A37T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1553465	NM_000018.4(ACADVL):c.39G>A (p.Gln13=)	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1488809	NM_000018.4(ACADVL):c.13C>G (p.Arg5Gly)	ACADVL, DLG4 (R5G)	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 1484230	NM_000018.4(ACADVL):c.20C>A (p.Ala7Asp)	ACADVL, DLG4 (A7D)	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 1412508	NM_000018.4(ACADVL):c.34C>T (p.Arg12Trp)	ACADVL, DLG4 (R12W)	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 1369951	NM_000018.4(ACADVL):c.11C>A (p.Ala4Asp)	ACADVL, DLG4 (A4D)	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 1335243	NM_001321075.3(DLG4):c.1184_1186+7del	DLG4, LOC126862479	Deletion (splice donor variant)	not provided	GPathogenic
Select item 1330945	NM_000018.4(ACADVL):c.62G>A (p.Ser21Asn)	ACADVL, DLG4 (S21N)	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 1329892	NM_001321075.3(DLG4):c.1195C>T (p.Arg399Ter)	DLG4, LOC126862479 (R339* +5 more)	Single nucleotide variant (nonsense +1 more)	Intellectual developmental disorder 62	GPathogenic
Select item 1329891	NM_001321075.3(DLG4):c.1084-1G>T	DLG4, LOC126862479	Single nucleotide variant (splice acceptor variant)	Intellectual developmental disorder 62	GPathogenic/Likely pathogenic
Select item 1329890	NM_001321075.3(DLG4):c.995A>G (p.Asp332Gly)	DLG4, LOC126862479 (D272G +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder 62	GUncertain significance
Select item 1329889	NM_001321075.3(DLG4):c.792T>A (p.Tyr264Ter)	DLG4, LOC126862479 (Y204* +5 more)	Single nucleotide variant (nonsense +1 more)	Intellectual developmental disorder 62	GPathogenic
Select item 1328479	NM_001321075.3(DLG4):c.1412G>A (p.Trp471Ter)	DLG4 (W411* +5 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability +1 more	GPathogenic
Select item 1315077	NM_001321075.3(DLG4):c.920T>A (p.Ile307Asn)	DLG4, LOC126862479 (I247N +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1311690	NM_001365.5(DLG4):c.67G>T (p.Ala23Ser)	ACADVL, DLG4 (A23S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1309248	NM_001321075.3(DLG4):c.788-2dup	DLG4, LOC126862479	Duplication (splice acceptor variant)	not provided	GUncertain significance
Select item 1303857	NM_001321075.3(DLG4):c.1270C>T (p.Arg424Trp)	DLG4, LOC126862479 (R364W +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1302110	NM_001321075.3(DLG4):c.1252T>C (p.Ser418Pro)	DLG4, LOC126862479 (S358P +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1300623	NM_001321075.3(DLG4):c.1072C>T (p.Gln358Ter)	DLG4, LOC126862479 (Q298* +5 more)	Single nucleotide variant (nonsense +1 more)	Intellectual developmental disorder 62 +1 more	GPathogenic
Select item 1298148	NM_000018.3(ACADVL):c.-49_-48insGGGCGGGCAGGACGG	ACADVL, DLG4	Insertion (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1271648	NM_000018.3(ACADVL):c.-49_-48insGGGCGTGCTGGACGC	ACADVL, DLG4	Insertion (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1255506	NM_001321075.3(DLG4):c.1167C>T (p.Ile389=)	DLG4, LOC126862479	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1247632	NM_000018.3(ACADVL):c.-49_-48insGGGCGTTCAGGACGC	ACADVL, DLG4	Insertion (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1246043	NM_001270447.2(ACADVL):c.132-485G>A	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1244924	NM_000018.3(ACADVL):c.-49_-48insGGGCGTGCAGGACGA	ACADVL, DLG4	Insertion (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1227093	NM_000018.3(ACADVL):c.-51_-49CG[2][1]	ACADVL, DLG4	Microsatellite (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1214579	NM_001270447.2(ACADVL):c.132-383A>G	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1205310	NM_001270447.2(ACADVL):c.132-431C>T	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1176656	NM_001321075.3(DLG4):c.-12A>G	ACADVL, DLG4 (L5P)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1164039	NM_001321075.3(DLG4):c.1083G>A (p.Ser361=)	DLG4, LOC126862479	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1135385	NM_000018.4(ACADVL):c.24G>C (p.Ala8=)	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1104345	NM_000018.4(ACADVL):c.28T>C (p.Leu10=)	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1094008	NM_000018.4(ACADVL):c.33G>A (p.Gly11=)	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign

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