12008[HGNC] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 58856	GRCh38/hg38 11p15.1(chr11:17905089-19674505)x1	CSRP3, CSRP3-AS1 +86 more	Copy number loss	See cases	GPathogenic
Select item 2247151	NM_004179.3(TPH1):c.1298A>G (p.Asp433Gly)	TPH1 (D433G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 760917	NM_004179.3(TPH1):c.1276C>G (p.His426Asp)	TPH1 (H426D)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2553061	NM_004179.3(TPH1):c.1236A>T (p.Lys412Asn)	TPH1 (K412N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328279	NM_004179.3(TPH1):c.1217G>A (p.Arg406Gln)	TPH1 (R406Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2690253	NM_004179.3(TPH1):c.1183C>T (p.Arg395Cys)	TPH1 (R395C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2521114	NM_004179.3(TPH1):c.1181A>G (p.Lys394Arg)	TPH1 (K394R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774690	NM_004179.3(TPH1):c.1095T>C (p.Leu365=)	TPH1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2511514	NM_004179.3(TPH1):c.1043A>G (p.His348Arg)	TPH1 (H348R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328281	NM_004179.3(TPH1):c.1033C>T (p.Leu345Phe)	TPH1 (L345F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251227	NM_004179.3(TPH1):c.836C>T (p.Pro279Leu)	TPH1 (P279L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060644	NM_004179.3(TPH1):c.804-7C>A	TPH1	Single nucleotide variant (intron variant)	TPH1-related disorder	GBenign
Select item 2391454	NM_004179.3(TPH1):c.791A>G (p.Tyr264Cys)	TPH1 (Y264C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554020	NM_004179.3(TPH1):c.785C>A (p.Pro262His)	TPH1 (P262H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495709	NM_004179.3(TPH1):c.671G>A (p.Arg224His)	TPH1 (R224H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328280	NM_004179.3(TPH1):c.670C>T (p.Arg224Cys)	TPH1 (R224C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401438	NM_004179.3(TPH1):c.656A>G (p.Asn219Ser)	TPH1 (N219S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550767	NM_004179.3(TPH1):c.573A>C (p.Arg191Ser)	TPH1 (R191S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641660	NM_004179.3(TPH1):c.529G>A (p.Val177Ile)	TPH1 (V177I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2623123	NM_004179.3(TPH1):c.434G>A (p.Arg145Gln)	TPH1 (R145Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3357243	NM_004179.3(TPH1):c.433C>T (p.Arg145Ter)	TPH1 (R145*)	Single nucleotide variant (nonsense)	TPH1-related disorder	GUncertain significance
Select item 2409078	NM_004179.3(TPH1):c.431G>A (p.Arg144His)	TPH1 (R144H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181537	NM_004179.3(TPH1):c.390T>A (p.Asp130Glu)	TPH1 (D130E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223817	NM_004179.3(TPH1):c.389A>G (p.Asp130Gly)	TPH1 (D130G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181536	NM_004179.3(TPH1):c.380C>A (p.Ser127Tyr)	TPH1 (S127Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2690254	NM_004179.3(TPH1):c.302-2_311del	TPH1	Deletion (splice acceptor variant)	not provided	GUncertain significance
Select item 781809	NM_004179.3(TPH1):c.232C>T (p.His78Tyr)	TPH1 (H78Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3033929	NM_004179.3(TPH1):c.170A>T (p.Asn57Ile)	TPH1 (N57I)	Single nucleotide variant (missense variant)	TPH1-related disorder	GBenign
Select item 2223368	NM_004179.3(TPH1):c.103C>G (p.Leu35Val)	TPH1 (L35V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398961	NM_004179.3(TPH1):c.94A>G (p.Ile32Val)	TPH1 (I32V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808754	GRCh37/hg19 11p15.1(chr11:17784556-18797650)x3	GTF2H1, HPS5 +19 more	Copy number gain	not provided	GUncertain significance
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 1527628	GRCh37/hg19 11p15.1(chr11:16820813-18103432)	ABCC8, KCNC1 +12 more	Copy number gain	not specified	GUncertain significance
Select item 999235	NC_000011.9:g.(?_17552691)_(19213995_?)dup	CSRP3, GTF2H1 +26 more	Duplication	Progressive myoclonic epilepsy type 7	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815411	GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3	LDHA, SLC5A12 +67 more	Copy number gain	not provided	GPathogenic
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	DKK3, DNAJC24 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 687899	GRCh37/hg19 11p15.1(chr11:16775884-18418719)x3	ABCC8, C11orf58 +22 more	Copy number gain	not provided	GUncertain significance
Select item 687796	GRCh37/hg19 11p15.1(chr11:16436272-18064677)x3	ABCC8, C11orf58 +13 more	Copy number gain	not provided	GUncertain significance
Select item 563866	GRCh37/hg19 11p15.1(chr11:17527585-18606820)x1	GTF2H1, HPS5 +18 more	Copy number loss	not provided	GUncertain significance
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 424640	GRCh37/hg19 11p15.1(chr11:17899742-18258290)x3	SAA2-SAA4, SAA4 +6 more	Copy number gain	not specified	GLikely benign

ClinVar

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Items: 48