2900[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ZMAT3, ZNF639 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	LOC129938282, LOC129938283 +866 more	Copy number gain	See cases	GPathogenic
Select item 57868	GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1	MIR944, MUC20 +557 more	Copy number loss	See cases	GPathogenic
Select item 57997	GRCh38/hg38 3q28-29(chr3:189265371-198110178)x3	ACAP2, APOD +411 more	Copy number gain	See cases	GPathogenic
Select item 57998	GRCh38/hg38 3q28-29(chr3:190667663-198110178)x3	LOC126806930, LOC126806931 +375 more	Copy number gain	See cases	GPathogenic
Select item 148761	GRCh38/hg38 3q29(chr3:192752937-198118383)x3	ACAP2, APOD +337 more	Copy number gain	See cases	GPathogenic
Select item 155434	GRCh38/hg38 3q29(chr3:193704605-198125115)x3	TM4SF19-DYNLT2B, TMEM44 +313 more	Copy number gain	See cases	GPathogenic
Select item 149477	GRCh38/hg38 3q29(chr3:194296197-198110198)x3	ACAP2, APOD +273 more	Copy number gain	See cases	GPathogenic
Select item 147306	GRCh38/hg38 3q29(chr3:194338534-197693741)x1	ACAP2, APOD +239 more	Copy number loss	See cases	GPathogenic
Select item 58000	GRCh38/hg38 3q29(chr3:194424496-198168758)x3	RUBCN, SENP5 +264 more	Copy number gain	See cases	GPathogenic
Select item 148016	GRCh38/hg38 3q29(chr3:195711798-198110178)x3	BDH1, CEP19 +169 more	Copy number gain	See cases	GPathogenic
Select item 59685	GRCh38/hg38 3q29(chr3:195711798-197976152)x3	LOC129938284, LOC129938285 +166 more	Copy number gain	See cases	GUncertain significance
Select item 59981	GRCh38/hg38 3q29(chr3:195755702-197583580)x3	LOC129938303, LOC129938304 +133 more	Copy number gain	See cases	GPathogenic
Select item 1679598	Single allele	CEP19, DLG1 +114 more	Deletion	Chromosome 3q29 microdeletion syndrome	GPathogenic
Select item 59686	GRCh38/hg38 3q29(chr3:195896948-198110178)x3	BDH1, CEP19 +155 more	Copy number gain	See cases	GUncertain significance
Select item 545293	Single allele	LOC123464504, LOC129938307 +114 more	Duplication	Autism	GLikely pathogenic
Select item 2499658	GRCh38/hg38 3q29(chr3:195950438-197629463)	BDH1, CEP19 +113 more	Copy number loss	See cases	GPathogenic
Select item 149940	GRCh38/hg38 3q29(chr3:195955711-197597912)x1	BDH1, CEP19 +111 more	Copy number loss	See cases	GPathogenic
Select item 155422	GRCh38/hg38 3q29(chr3:195963356-197629463)x3	FBXO45, LINC00885 +110 more	Copy number gain	See cases	GUncertain significance
Select item 59982	GRCh38/hg38 3q29(chr3:195965316-197625573)x3	BDH1, CEP19 +109 more	Copy number gain	See cases	GPathogenic
Select item 59983	GRCh38/hg38 3q29(chr3:195972720-197658495)x3	BDH1, CEP19 +113 more	Copy number gain	See cases	GPathogenic
Select item 148628	GRCh38/hg38 3q29(chr3:195974291-197597912)x1	NRROS, PAK2 +109 more	Copy number loss	See cases	GPathogenic
Select item 153972	GRCh38/hg38 3q29(chr3:195976744-197629463)x1	BDH1, CEP19 +110 more	Copy number loss	See cases	GPathogenic
Select item 545294	NC_000003.12:g.(?_195990063)_(197617301_?)del	LOC123464504, LOC123464505 +108 more	Deletion	Schizophrenia	GPathogenic
Select item 59984	GRCh38/hg38 3q29(chr3:195997494-197662231)x3	BDH1, CEP19 +111 more	Copy number gain	See cases	GPathogenic
Select item 153314	GRCh38/hg38 3q29(chr3:195998419-197629463)x3	BDH1, CEP19 +108 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 160933	GRCh38/hg38 3q29(chr3:196013486-197590232)x3	BDH1, CEP19 +107 more	Copy number gain	See cases	GPathogenic
Select item 160885	GRCh38/hg38 3q29(chr3:196013486-197590232)x1	BDH1, CEP19 +107 more	Copy number loss	See cases	GPathogenic
Select item 154986	GRCh38/hg38 3q29(chr3:196013486-197597912)x1	BDH1, CEP19 +107 more	Copy number loss	See cases	GPathogenic
Select item 152467	GRCh38/hg38 3q29(chr3:196013486-197612399)x1	BDH1, CEP19 +107 more	Copy number loss	See cases	GPathogenic
Select item 57328	GRCh38/hg38 3q29(chr3:196013486-197503306)x3	CEP19, DLG1 +102 more	Copy number gain	See cases	GPathogenic
Select item 34369	GRCh38/hg38 3q29(chr3:196013486-197590232)x1	LOC129938306, LOC129938307 +107 more	Copy number loss	See cases	GPathogenic
Select item 149576	GRCh38/hg38 3q29(chr3:196013531-197590232)x1	BDH1, CEP19 +107 more	Copy number loss	See cases	GPathogenic
Select item 59986	GRCh38/hg38 3q29(chr3:196035777-197662231)x3	BDH1, CEP19 +111 more	Copy number gain	See cases	GPathogenic
Select item 59985	GRCh38/hg38 3q29(chr3:196035777-197606438)x3	BDH1, CEP19 +107 more	Copy number gain	See cases	GPathogenic
Select item 59289	GRCh38/hg38 3q29(chr3:196035777-197625573)x1	BDH1, CEP19 +107 more	Copy number loss	See cases	GPathogenic
Select item 59288	GRCh38/hg38 3q29(chr3:196035777-197658540)x1	BDH1, CEP19 +111 more	Copy number loss	See cases	GPathogenic
Select item 57492	GRCh38/hg38 3q29(chr3:196077857-197165715)x1	CEP19, DLG1 +89 more	Copy number loss	See cases	GPathogenic
Select item 545295	NC_000003.12:g.(?_196154147)_(197376501_?)del	CEP19, DLG1 +85 more	Deletion	Schizophrenia	GPathogenic
Select item 153416	GRCh38/hg38 3q29(chr3:196418334-198125115)x3	BDH1, CEP19 +102 more	Copy number gain	See cases	GUncertain significance
Select item 149972	GRCh38/hg38 3q29(chr3:196812829-197938552)x3	BDH1, DLG1 +62 more	Copy number gain	See cases	GUncertain significance
Select item 152924	GRCh38/hg38 3q29(chr3:196832991-197182319)x3	DLG1, LOC121048736 +18 more	Copy number gain	See cases	GUncertain significance
Select item 152925	GRCh38/hg38 3q29(chr3:196841258-197590173)x3	BDH1, DLG1 +35 more	Copy number gain	See cases	GUncertain significance
Select item 3082757	NM_001366207.1(DLG1):c.2670A>C (p.Lys890Asn)	DLG1 (K850N +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3056864	NM_001366207.1(DLG1):c.2663C>T (p.Pro888Leu)	DLG1 (P783L +14 more)	Single nucleotide variant (missense variant +1 more)	DLG1-related disorder	GBenign
Select item 2630389	NM_001366207.1(DLG1):c.2629A>C (p.Ile877Leu)	DLG1 (I772L +14 more)	Single nucleotide variant (missense variant +1 more)	DLG1-related disorder	GUncertain significance
Select item 3057052	NM_001366207.1(DLG1):c.2622A>G (p.Lys874=)	DLG1	Single nucleotide variant (synonymous variant +1 more)	DLG1-related disorder	GBenign
Select item 2339805	NM_001366207.1(DLG1):c.2590G>A (p.Asp864Asn)	DLG1 (D759N +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 740607	NM_001366207.1(DLG1):c.2575+9C>T	DLG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3082756	NM_001366207.1(DLG1):c.2548G>A (p.Glu850Lys)	DLG1 (E828K +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335272	NM_001366207.1(DLG1):c.2531A>G (p.Glu844Gly)	DLG1 (E739G +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469955	NM_001366207.1(DLG1):c.2498G>A (p.Arg833His)	DLG1 (R773H +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487720	NM_001366207.1(DLG1):c.2479A>G (p.Ile827Val)	DLG1 (I755V +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3352207	NM_001366207.1(DLG1):c.2400T>C (p.Ser800=)	DLG1	Single nucleotide variant (synonymous variant +1 more)	DLG1-related disorder	GLikely benign
Select item 2535721	NM_001366207.1(DLG1):c.2359G>A (p.Glu787Lys)	DLG1 (E727K +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3041899	NM_001366207.1(DLG1):c.2357G>A (p.Arg786Gln)	DLG1 (R681Q +14 more)	Single nucleotide variant (missense variant +1 more)	DLG1-related disorder	GBenign
Select item 2496026	NM_001366207.1(DLG1):c.2324A>C (p.Asn775Thr)	DLG1 (N715T +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376339	NM_001366207.1(DLG1):c.2324A>G (p.Asn775Ser)	DLG1 (N703S +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309642	NM_001366207.1(DLG1):c.2316G>T (p.Gln772His)	DLG1 (Q667H +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2572983	NM_001366207.1(DLG1):c.2048-22_2048-4del	DLG1	Deletion (intron variant)	Mendelian syndromes with cleft lip/palate	GUncertain significance
Select item 3045357	NM_001366207.1(DLG1):c.2047C>T (p.Arg683Cys)	DLG1 (R578C +10 more)	Single nucleotide variant (missense variant +2 more)	DLG1-related disorder	GLikely benign
Select item 2262708	NM_001366207.1(DLG1):c.2014A>G (p.Thr672Ala)	DLG1 (T632A +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2630168	NM_001366207.1(DLG1):c.2007G>C (p.Gln669His)	DLG1 (K564N +10 more)	Single nucleotide variant (missense variant +1 more)	DLG1-related disorder	GUncertain significance
Select item 3272228	NM_001366207.1(DLG1):c.2000C>T (p.Ala667Val)	DLG1 (A648V +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3272227	NM_001366207.1(DLG1):c.1999G>A (p.Ala667Thr)	DLG1 (A649T +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 790388	NM_001366207.1(DLG1):c.1899T>G (p.Asp633Glu)	DLG1 (D550E +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2403675	NM_001366207.1(DLG1):c.1898A>G (p.Asp633Gly)	DLG1 (D666G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320347	NM_001366207.1(DLG1):c.1895G>C (p.Arg632Thr)	DLG1 (R582T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2632418	NM_001366207.1(DLG1):c.1832A>T (p.Lys611Ile)	DLG1 (K528I +4 more)	Single nucleotide variant (missense variant +1 more)	DLG1-related disorder	GUncertain significance
Select item 3272230	NM_001366207.1(DLG1):c.1727T>C (p.Phe576Ser)	DLG1 (F576S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082755	NM_001366207.1(DLG1):c.1697G>T (p.Gly566Val)	DLG1 (G516V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387879	NM_001366207.1(DLG1):c.1631G>A (p.Arg544Gln)	DLG1 (R494Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 152488	GRCh38/hg38 3q29(chr3:197098993-197658495)x3	BDH1, DLG1 +20 more	Copy number gain	See cases	GBenign
Select item 3032486	NM_001366207.1(DLG1):c.1546+9A>G	DLG1	Single nucleotide variant (intron variant)	DLG1-related disorder	GLikely benign
Select item 2537168	NM_001366207.1(DLG1):c.1517T>C (p.Val506Ala)	DLG1 (V456A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082754	NM_001366207.1(DLG1):c.1450A>G (p.Ser484Gly)	DLG1 (S401G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 784030	NM_001366207.1(DLG1):c.1410T>C (p.Ser470=)	DLG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2336160	NM_001366207.1(DLG1):c.1348G>A (p.Gly450Arg)	DLG1 (G400R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384492	NM_001366207.1(DLG1):c.1322C>G (p.Thr441Arg)	DLG1 (T358R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617819	NM_001366207.1(DLG1):c.1303G>C (p.Val435Leu)	DLG1 (V417L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082753	NM_001366207.1(DLG1):c.1195A>C (p.Ser399Arg)	DLG1 (S316R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3040497	NM_001366207.1(DLG1):c.1191T>C (p.His397=)	DLG1	Single nucleotide variant (synonymous variant +1 more)	DLG1-related disorder	GLikely benign
Select item 2654521	NM_001366207.1(DLG1):c.1165+4059dup	DLG1	Duplication (intron variant)	not provided	GBenign
Select item 3039431	NM_001366207.1(DLG1):c.1085C>G (p.Ser362Cys)	DLG1 (S279C +4 more)	Single nucleotide variant (missense variant +1 more)	DLG1-related disorder	GLikely benign
Select item 2399982	NM_001366207.1(DLG1):c.1058A>C (p.Glu353Ala)	DLG1 (E335A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3035494	NM_001366207.1(DLG1):c.1030G>A (p.Val344Ile)	DLG1 (V261I +4 more)	Single nucleotide variant (missense variant +1 more)	DLG1-related disorder	GLikely benign
Select item 3041588	NM_001366207.1(DLG1):c.1017A>G (p.Leu339=)	DLG1	Single nucleotide variant (synonymous variant +1 more)	DLG1-related disorder	GLikely benign
Select item 3041727	NM_001366207.1(DLG1):c.1015T>C (p.Leu339=)	DLG1	Single nucleotide variant (synonymous variant +1 more)	DLG1-related disorder	GLikely benign
Select item 3040805	NM_001366207.1(DLG1):c.906A>C (p.Gly302=)	DLG1	Single nucleotide variant (synonymous variant +1 more)	DLG1-related disorder	GLikely benign
Select item 3082763	NM_001366207.1(DLG1):c.835C>A (p.Pro279Thr)	DLG1 (P229T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515050	NM_001366207.1(DLG1):c.825A>C (p.Lys275Asn)	DLG1 (K225N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 784031	NM_001366207.1(DLG1):c.786G>A (p.Ala262=)	DLG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign

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