LOC126862479[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR4521, MIR497 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	OR1D4, OR1D5 +651 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	ABR, ABR-AS1 +604 more	Copy number gain	See cases	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 57356	GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1	SPEM3, TEKT1 +229 more	Copy number loss	See cases	GPathogenic
Select item 149166	GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3	ACADVL, ACAP1 +182 more	Copy number gain	See cases	GLikely pathogenic
Select item 150350	GRCh38/hg38 17p13.1(chr17:6891357-7264234)x3	ACADVL, ALOX12 +53 more	Copy number gain	See cases	GUncertain significance
Select item 144281	GRCh38/hg38 17p13.1(chr17:6958978-7491129)x3	ACADVL, ACAP1 +106 more	Copy number gain	See cases	GUncertain significance
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 817726	NM_001321075.3(DLG4):c.1292del (p.Phe431fs)	DLG4, LOC126862479 (F371fs +5 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
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 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 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 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 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 916440	NM_001321075.3(DLG4):c.1201G>T (p.Glu401Ter)	DLG4, LOC126862479 (E398* +5 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
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 1335243	NM_001321075.3(DLG4):c.1184_1186+7del	DLG4, LOC126862479	Deletion (splice donor variant)	not provided	GPathogenic
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 1255506	NM_001321075.3(DLG4):c.1167C>T (p.Ile389=)	DLG4, LOC126862479	Single nucleotide variant (synonymous variant +1 more)	DLG4-related disorder +2 more	GBenign
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 523996	NM_001321075.3(DLG4):c.1154del (p.Thr385fs)	LOC126862479, DLG4 (T382fs +5 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
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 620405	NM_001321075.3(DLG4):c.1120C>T (p.Gln374Ter)	DLG4, LOC126862479 (Q417* +5 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 813880	NM_001321075.3(DLG4):c.1102C>T (p.Arg368Ter)	LOC126862479, DLG4 (R411* +5 more)	Single nucleotide variant (nonsense +1 more)	Intellectual developmental disorder 62 +1 more	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 508877	NM_001321075.3(DLG4):c.1084-10C>G	DLG4, LOC126862479	Single nucleotide variant (intron variant)	not specified	GLikely benign
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 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 689718	NM_001321075.3(DLG4):c.1018_1025del (p.Phe340fs)	DLG4, LOC126862479 (F340fs +5 more)	Deletion (frameshift variant +1 more)	Marfanoid habitus and intellectual disability +1 more	GPathogenic/Likely pathogenic
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 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 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 870938	NM_001321075.3(DLG4):c.990C>T (p.Gly330=)	DLG4, LOC126862479	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 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 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 975683	NM_001321075.3(DLG4):c.926G>A (p.Arg309Gln)	DLG4, LOC126862479 (R249Q +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GLikely benign
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 813881	NM_001321075.3(DLG4):c.925C>T (p.Arg309Ter)	DLG4, LOC126862479 (R352* +5 more)	Single nucleotide variant (nonsense +1 more)	Intellectual developmental disorder 62 +2 more	GPathogenic/Likely pathogenic
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 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 736251	NM_001321075.3(DLG4):c.906C>T (p.Leu302=)	DLG4, LOC126862479	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 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 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 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 1309248	NM_001321075.3(DLG4):c.788-2dup	DLG4, LOC126862479	Duplication (splice acceptor variant)	not provided	GUncertain significance

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Items: 57