ClinVar for Gene (Select 1742) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3254754	NM_001321075.3(DLG4):c.451C>T (p.Arg151Trp)	DLG4 (R124W +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder 62	GUncertain significance
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 3253170	NM_001321075.3(DLG4):c.379G>A (p.Glu127Lys)	DLG4 (E100K +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3252308	NM_001321075.3(DLG4):c.1367T>C (p.Phe456Ser)	DLG4 (F396S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	ABR, ACADVL +209 more	Duplication	not provided	GUncertain significance
Select item 3243103	NC_000017.10:g.(?_7123304)_(7360042_?)del	ACADVL, ACAP1 +23 more	Deletion	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 3242525	Single allele	PHF23, YBX2 +13 more	Deletion	Faundes-Banka syndrome	GPathogenic
Select item 3239137	NM_001321075.3(DLG4):c.787+105A>G	DLG4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3239069	NM_001321075.3(DLG4):c.1569C>T (p.Tyr523=)	DLG4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 3082790	NM_001321075.3(DLG4):c.347G>A (p.Ser116Asn)	DLG4 (S116N +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3082789	NM_001321075.3(DLG4):c.335+1G>A	DLG4	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GPathogenic
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 3063511	GRCh37/hg19 17p13.1(chr17:7002380-7469251)x1	PHF23, PLSCR3 +32 more	Copy number loss	not specified	GPathogenic
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3061081	NM_001321075.3(DLG4):c.2068+8C>G	DLG4	Single nucleotide variant (intron variant)	DLG4-related disorder	GLikely benign
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 3055656	NM_001321075.3(DLG4):c.1446C>T (p.Thr482=)	DLG4	Single nucleotide variant (synonymous variant +1 more)	DLG4-related disorder	GBenign
Select item 3051099	NM_001321075.3(DLG4):c.1751C>T (p.Ser584Leu)	DLG4 (S524L +5 more)	Single nucleotide variant (missense variant +1 more)	DLG4-related disorder	GLikely benign
Select item 3041247	NM_001321075.3(DLG4):c.2058G>A (p.Glu686=)	DLG4	Single nucleotide variant (synonymous variant +1 more)	DLG4-related disorder	GBenign
Select item 3036475	NM_001321075.3(DLG4):c.399G>A (p.Ala133=)	DLG4	Single nucleotide variant (synonymous variant +1 more)	DLG4-related disorder	GLikely benign
Select item 3036143	NM_001321075.3(DLG4):c.1305C>A (p.Ala435=)	DLG4	Single nucleotide variant (synonymous variant +1 more)	DLG4-related disorder	GLikely benign
Select item 3035072	NM_001321075.3(DLG4):c.1516-8C>T	DLG4	Single nucleotide variant (intron variant)	DLG4-related disorder	GLikely benign
Select item 3033032	NM_001321075.3(DLG4):c.668T>C (p.Val223Ala)	DLG4 (V163A +5 more)	Single nucleotide variant (missense variant +1 more)	DLG4-related disorder	GUncertain significance
Select item 3026339	NM_001321075.3(DLG4):c.398C>T (p.Ala133Val)	DLG4 (A106V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3011745	NM_001321075.3(DLG4):c.1364G>A (p.Arg455His)	DLG4 (R428H +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 2771493	NM_001321075.3(DLG4):c.527G>C (p.Gly176Ala)	DLG4 (G149A +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2691405	NM_001321075.3(DLG4):c.480G>T (p.Glu160Asp)	DLG4 (E100D +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2682273	NM_001321075.3(DLG4):c.1694-20G>A	DLG4	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2672084	NM_001321075.3(DLG4):c.1516-1G>C	DLG4	Single nucleotide variant (splice acceptor variant)	not provided	Gnot provided
Select item 2664960	NM_001321075.3(DLG4):c.129del (p.Asp43fs)	DLG4 (D19fs +2 more)	Deletion (frameshift variant +2 more)	Intellectual developmental disorder 62	GPathogenic
Select item 2663407	NM_001321075.3(DLG4):c.1795A>G (p.Ile599Val)	DLG4 (I539V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2647321	NM_001365.5(DLG4):c.94A>G (p.Ser32Gly)	ACADVL, DLG4 (S32G)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 2647320	NM_001321075.3(DLG4):c.462G>A (p.Pro154=)	DLG4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2647319	NM_001321075.3(DLG4):c.787+31A>G	DLG4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2647318	NM_001321075.3(DLG4):c.1335C>T (p.Cys445=)	DLG4	Single nucleotide variant (synonymous variant +1 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 2632746	NM_001321075.3(DLG4):c.209G>A (p.Arg70Lys)	DLG4 (R10K +5 more)	Single nucleotide variant (missense variant +1 more)	DLG4-related disorder	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 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 2578383	NM_001321075.3(DLG4):c.150+4_150+5del	DLG4	Deletion (intron variant)	Intellectual developmental disorder 62	Gnot provided
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 2576717	NM_001321075.3(DLG4):c.2000A>G (p.Glu667Gly)	DLG4 (E607G +5 more)	Single nucleotide variant (missense variant +1 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 2570970	NM_001321075.3(DLG4):c.1620T>G (p.Leu540=)	DLG4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2570969	NM_001321075.3(DLG4):c.1644C>T (p.Asn548=)	DLG4	Single nucleotide variant (synonymous variant +1 more)	DLG4-related disorder +1 more	GLikely benign
Select item 2506704	NM_001321075.3(DLG4):c.417G>C (p.Glu139Asp)	DLG4 (E112D +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2506263	NM_001321075.3(DLG4):c.719A>G (p.Tyr240Cys)	DLG4 (Y180C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2505751	NM_001321075.3(DLG4):c.270C>G (p.Asp90Glu)	DLG4 (D130E +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2503221	NM_001321075.3(DLG4):c.30+1G>A	DLG4	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2500480	NM_001321075.3(DLG4):c.1423C>T (p.Arg475Trp)	DLG4 (R415W +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2498727	GRCh37/hg19 17p13.1(chr17:7004894-7766789)x1	ACADVL, ACAP1 +48 more	Copy number loss	not provided	GPathogenic
Select item 2498102	NM_001321075.3(DLG4):c.2082dup (p.Asp695Ter)	DLG4 (D635* +5 more)	Duplication (nonsense +2 more)	Intellectual developmental disorder 62	GPathogenic
Select item 2498101	NM_001321075.3(DLG4):c.1976+235C>T	DLG4	Single nucleotide variant (intron variant)	Intellectual developmental disorder 62	GPathogenic
Select item 2498100	NM_001321075.3(DLG4):c.1829G>T (p.Gly610Val)	DLG4 (G550V +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder 62	GUncertain significance
Select item 2498099	NM_001321075.3(DLG4):c.1756C>T (p.Arg586Trp)	DLG4 (R526W +5 more)	Single nucleotide variant (missense variant +1 more)	DLG4-related disorder +1 more	GUncertain significance
Select item 2498098	NM_001321075.3(DLG4):c.1693C>T (p.His565Tyr)	DLG4 (H505Y +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2498097	NM_001321075.3(DLG4):c.1381_1384del (p.His461fs)	DLG4 (H401fs +5 more)	Deletion (frameshift variant +1 more)	Intellectual developmental disorder 62	GPathogenic
Select item 2498096	NM_001321075.3(DLG4):c.788-1669_1302-397del	DLG4, LOC126862479	Deletion (splice acceptor 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 2498088	NM_001321075.3(DLG4):c.787+4A>G	DLG4	Single nucleotide variant (intron variant)	Intellectual developmental disorder 62	GUncertain significance
Select item 2498087	NM_001321075.3(DLG4):c.593G>T (p.Gly198Val)	DLG4 (G138V +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder 62	GUncertain significance
Select item 2498086	NM_001321075.3(DLG4):c.143dup (p.Gly49fs)	DLG4 (G25fs +2 more)	Duplication (frameshift variant +2 more)	Intellectual developmental disorder 62	GPathogenic
Select item 2498085	NM_001321075.3(DLG4):c.506-2A>G	DLG4	Single nucleotide variant (splice acceptor variant)	Intellectual developmental disorder 62	GLikely pathogenic
Select item 2498084	NM_001321075.3(DLG4):c.505+1G>T	DLG4	Single nucleotide variant (splice donor variant)	Intellectual developmental disorder 62	GLikely pathogenic
Select item 2498083	NM_001321075.3(DLG4):c.398C>A (p.Ala133Glu)	DLG4 (A106E +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder 62	GUncertain significance
Select item 2498082	NM_001321075.3(DLG4):c.94C>T (p.Gln32Ter)	DLG4 (Q32* +1 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 2477675	NM_001321075.3(DLG4):c.1472A>C (p.Lys491Thr)	DLG4 (K531T +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2477231	NM_001321075.3(DLG4):c.1598A>G (p.Tyr533Cys)	DLG4 (Y473C +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2446173	NM_001321075.3(DLG4):c.253A>T (p.Asn85Tyr)	DLG4 (N125Y +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 2428724	NM_001321075.3(DLG4):c.30+18G>A	DLG4	Single nucleotide variant (intron variant)	Intellectual developmental disorder 62	GBenign
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 2424768	NC_000017.10:g.(?_7123304)_(7606804_?)del	ACADVL, ACAP1 +40 more	Deletion	Common variable immunodeficiency	GUncertain significance
Select item 2423278	NC_000017.10:g.(?_7120455)_(8151423_?)del	ALOX15B, ACADVL +66 more	Deletion	Li-Fraumeni syndrome	GPathogenic

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