ClinVar for Gene (Select 9787) - ClinVar

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Links from Gene

Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338471	GRCh37/hg19 14q22.2-22.3(chr14:54866611-57272174)x1	ATG14, CDKN3 +16 more	Copy number loss	Syndromic microphthalmia type 5	GLikely pathogenic
Select item 3272303	NM_014750.5(DLGAP5):c.708C>A (p.Asn236Lys)	DLGAP5 (N236K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272302	NM_014750.5(DLGAP5):c.1982C>T (p.Thr661Ile)	DLGAP5 (T661I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272301	NM_014750.5(DLGAP5):c.2053C>A (p.Pro685Thr)	DLGAP5 (P685T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272300	NM_014750.5(DLGAP5):c.1309C>T (p.Leu437Phe)	DLGAP5 (L437F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272299	NM_014750.5(DLGAP5):c.2465A>C (p.His822Pro)	DLGAP5 (H822P)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3272298	NM_014750.5(DLGAP5):c.1576A>T (p.Asn526Tyr)	DLGAP5 (N526Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272297	NM_014750.5(DLGAP5):c.1752A>T (p.Arg584Ser)	DLGAP5 (R584S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272295	NM_014750.5(DLGAP5):c.1805A>G (p.Lys602Arg)	DLGAP5 (K602R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272294	NM_014750.5(DLGAP5):c.346G>A (p.Gly116Arg)	DLGAP5 (G116R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272293	NM_014750.5(DLGAP5):c.644A>G (p.Gln215Arg)	DLGAP5 (Q215R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272292	NM_014750.5(DLGAP5):c.1744G>T (p.Ala582Ser)	DLGAP5 (A582S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272291	NM_014750.5(DLGAP5):c.1745C>T (p.Ala582Val)	DLGAP5 (A582V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082886	NM_014750.5(DLGAP5):c.997G>A (p.Ala333Thr)	DLGAP5 (A333T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082885	NM_014750.5(DLGAP5):c.982A>T (p.Met328Leu)	DLGAP5 (M328L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082884	NM_014750.5(DLGAP5):c.769G>A (p.Asp257Asn)	DLGAP5 (D257N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082883	NM_014750.5(DLGAP5):c.68T>G (p.Ile23Ser)	DLGAP5 (I23S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082882	NM_014750.5(DLGAP5):c.658G>A (p.Val220Ile)	DLGAP5 (V220I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082881	NM_014750.5(DLGAP5):c.365G>A (p.Arg122His)	DLGAP5 (R122H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082880	NM_014750.5(DLGAP5):c.332A>G (p.Glu111Gly)	DLGAP5 (E111G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082879	NM_014750.5(DLGAP5):c.256C>G (p.Leu86Val)	DLGAP5 (L86V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082878	NM_014750.5(DLGAP5):c.2350A>G (p.Thr784Ala)	DLGAP5 (T784A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082877	NM_014750.5(DLGAP5):c.2041T>A (p.Phe681Ile)	DLGAP5 (F681I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082876	NM_014750.5(DLGAP5):c.1758A>T (p.Arg586Ser)	DLGAP5 (R586S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082875	NM_014750.5(DLGAP5):c.1724G>A (p.Arg575His)	DLGAP5 (R575H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082874	NM_014750.5(DLGAP5):c.1319A>T (p.Glu440Val)	DLGAP5 (E440V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082872	NM_014750.5(DLGAP5):c.1288G>A (p.Val430Met)	DLGAP5 (V430M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082871	NM_014750.5(DLGAP5):c.122G>A (p.Arg41Gln)	DLGAP5 (R41Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082870	NM_014750.5(DLGAP5):c.1177C>G (p.His393Asp)	DLGAP5 (H393D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082869	NM_014750.5(DLGAP5):c.1119G>T (p.Gln373His)	DLGAP5 (Q373H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3082868	NM_014750.5(DLGAP5):c.1081G>A (p.Ala361Thr)	DLGAP5 (A361T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082867	NM_014750.5(DLGAP5):c.1024A>T (p.Thr342Ser)	DLGAP5 (T342S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3061843	GRCh38/hg38 14q22.2-22.3(chr14:53949639-56297420)x1	LOC130055670, LOC130055671 +89 more	Copy number loss	Dystonia 5	GPathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2622291	NM_014750.5(DLGAP5):c.2263A>G (p.Asn755Asp)	DLGAP5 (N755D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612175	NM_014750.5(DLGAP5):c.1459G>C (p.Gly487Arg)	DLGAP5 (G487R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607283	NM_014750.5(DLGAP5):c.520G>A (p.Ala174Thr)	DLGAP5 (A174T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597613	NM_014750.5(DLGAP5):c.814A>G (p.Asn272Asp)	DLGAP5 (N272D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2550859	NM_014750.5(DLGAP5):c.1774T>C (p.Cys592Arg)	DLGAP5 (C592R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543882	NM_014750.5(DLGAP5):c.146A>T (p.Asp49Val)	DLGAP5 (D49V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538139	NM_014750.5(DLGAP5):c.1243T>C (p.Ser415Pro)	DLGAP5 (S415P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2536944	NM_014750.5(DLGAP5):c.137G>C (p.Gly46Ala)	DLGAP5 (G46A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536005	NM_014750.5(DLGAP5):c.2122G>A (p.Val708Ile)	DLGAP5 (V708I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531962	NM_014750.5(DLGAP5):c.1183T>G (p.Leu395Val)	DLGAP5 (L395V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525796	NM_014750.5(DLGAP5):c.1931A>G (p.Asn644Ser)	DLGAP5 (N644S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2522461	NM_014750.5(DLGAP5):c.2395A>G (p.Thr799Ala)	DLGAP5 (T799A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489967	NM_014750.5(DLGAP5):c.613A>C (p.Met205Leu)	DLGAP5 (M205L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479806	NM_014750.5(DLGAP5):c.2235T>G (p.Ile745Met)	DLGAP5 (I745M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462725	NM_014750.5(DLGAP5):c.2300G>A (p.Ser767Asn)	DLGAP5 (S767N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461794	NM_014750.5(DLGAP5):c.1348G>C (p.Glu450Gln)	DLGAP5 (E450Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408272	NM_014750.5(DLGAP5):c.1943C>G (p.Ser648Cys)	DLGAP5 (S648C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406810	NM_014750.5(DLGAP5):c.1001A>G (p.Asn334Ser)	DLGAP5 (N334S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384581	NM_014750.5(DLGAP5):c.620G>A (p.Arg207Gln)	DLGAP5 (R207Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372703	NM_014750.5(DLGAP5):c.1030A>G (p.Thr344Ala)	DLGAP5 (T344A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367789	NM_014750.5(DLGAP5):c.2012C>T (p.Thr671Met)	DLGAP5 (T671M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357370	NM_014750.5(DLGAP5):c.1555G>A (p.Asp519Asn)	DLGAP5 (D519N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347323	NM_014750.5(DLGAP5):c.529C>T (p.Pro177Ser)	DLGAP5 (P177S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331702	NM_014750.5(DLGAP5):c.653G>A (p.Arg218Lys)	DLGAP5 (R218K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315655	NM_014750.5(DLGAP5):c.1988C>T (p.Pro663Leu)	DLGAP5 (P663L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304383	NM_014750.5(DLGAP5):c.1265G>A (p.Arg422Gln)	DLGAP5 (R422Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2270778	NM_014750.5(DLGAP5):c.2156T>C (p.Leu719Ser)	DLGAP5 (L719S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248886	NM_014750.5(DLGAP5):c.1119G>C (p.Gln373His)	DLGAP5 (Q373H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2245015	NM_014750.5(DLGAP5):c.1735A>G (p.Ile579Val)	DLGAP5 (I579V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222225	NM_014750.5(DLGAP5):c.320A>C (p.Lys107Thr)	DLGAP5 (K107T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221876	NM_014750.5(DLGAP5):c.1139C>T (p.Pro380Leu)	DLGAP5 (P380L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220512	NM_014750.5(DLGAP5):c.26G>A (p.Arg9Gln)	DLGAP5 (R9Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1527818	GRCh37/hg19 14q22.1-22.3(chr14:53241194-55803026)	BMP4, CDKN3 +15 more	Copy number loss	not specified	GPathogenic
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	ISCA2, TMEM30B +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 815659	GRCh37/hg19 14q22.3(chr14:55615073-58043694)x1	ATG14, FBXO34 +11 more	Copy number loss	not provided	GPathogenic
Select item 718753	NM_014750.5(DLGAP5):c.1049+7A>C	DLGAP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 564132	GRCh37/hg19 14q22.2-22.3(chr14:54530302-55812050)x3	GCH1, LGALS3 +10 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 152063	GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3	ABHD12B, ARF6 +394 more	Copy number gain	See cases	GLikely pathogenic
Select item 146623	GRCh38/hg38 14q22.1-22.3(chr14:51544846-55320598)x1	BMP4, CDKN3 +147 more	Copy number loss	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57779	GRCh38/hg38 14q22.1-22.3(chr14:50591011-56286919)x1	ABHD12B, ATG14 +217 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 79