DENND1B[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129932021, LOC129932022 +478 more	Copy number loss	See cases	GPathogenic
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 146285	GRCh38/hg38 1q31.1-32.1(chr1:189034483-199615866)x1	ASPM, ATP6V1G3 +173 more	Copy number loss	See cases	GPathogenic
Select item 146109	GRCh38/hg38 1q31.3(chr1:195514309-197896494)x1	ASPM, CFH +36 more	Copy number loss	See cases	GPathogenic
Select item 2349962	NM_001195215.2(DENND1B):c.2161C>T (p.Arg721Trp)	DENND1B (R721W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 788637	NM_001195215.2(DENND1B):c.1956C>T (p.Ser652=)	DENND1B	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 712344	NM_001195215.2(DENND1B):c.1789A>G (p.Met597Val)	DENND1B (M597V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2405165	NM_001195215.2(DENND1B):c.1714C>G (p.Leu572Val)	DENND1B (L572V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204766	NM_001195215.2(DENND1B):c.1217T>A (p.Ile406Asn)	DENND1B (I406N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271505	NM_001195215.2(DENND1B):c.1163G>A (p.Arg388Gln)	DENND1B (R358Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271507	NM_001195215.2(DENND1B):c.1027G>A (p.Asp343Asn)	DENND1B (D313N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271508	NM_001195215.2(DENND1B):c.995G>C (p.Arg332Thr)	DENND1B (R302T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407237	NM_001195215.2(DENND1B):c.979G>C (p.Ala327Pro)	DENND1B (A327P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293792	NM_001195215.2(DENND1B):c.929C>T (p.Ala310Val)	DENND1B (A310V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360502	NM_001195215.2(DENND1B):c.926C>T (p.Ser309Leu)	DENND1B (S279L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377369	NM_001195215.2(DENND1B):c.899T>G (p.Leu300Trp)	DENND1B (L300W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493768	NM_001195215.2(DENND1B):c.869C>G (p.Thr290Arg)	DENND1B (T260R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 781797	NM_001195215.2(DENND1B):c.762G>A (p.Leu254=)	DENND1B	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2475721	NM_001195215.2(DENND1B):c.733T>C (p.Tyr245His)	DENND1B (Y245H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521081	NM_001195215.2(DENND1B):c.732A>G (p.Ile244Met)	DENND1B (I244M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081462	NM_001195215.2(DENND1B):c.719A>T (p.Tyr240Phe)	DENND1B (Y210F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327671	NM_001195215.2(DENND1B):c.658A>G (p.Ser220Gly)	DENND1B (S190G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081460	NM_001195215.2(DENND1B):c.547A>C (p.Thr183Pro)	DENND1B (T183P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3338178	NM_001195215.2(DENND1B):c.447+1G>T	DENND1B	Single nucleotide variant (splice donor variant)	Autism	GUncertain significance
Select item 2382425	NM_001195215.2(DENND1B):c.424A>C (p.Asn142His)	DENND1B (N142H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226036	NM_001195215.2(DENND1B):c.415C>G (p.Pro139Ala)	DENND1B (P139A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204011	NM_001195215.2(DENND1B):c.277A>G (p.Ile93Val)	DENND1B (I83V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081459	NM_001195215.2(DENND1B):c.229G>A (p.Glu77Lys)	DENND1B (E67K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 741422	NM_001195215.2(DENND1B):c.141T>C (p.Ser47=)	DENND1B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3081461	NM_001195215.2(DENND1B):c.61T>A (p.Cys21Ser)	DENND1B (C21S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2301173	NM_001195215.2(DENND1B):c.35C>T (p.Thr12Ile)	DENND1B (T12I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 3062655	GRCh37/hg19 1q31.3-32.1(chr1:197216705-203683110)x1	ADIPOR1, ADORA1 +57 more	Copy number loss	not specified	GLikely pathogenic
Select item 1879127	GRCh37/hg19 1q31.3(chr1:196670448-197898389)x1	ASPM, C1orf53 +11 more	Copy number loss	not provided	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1808698	GRCh37/hg19 1q31.2-32.1(chr1:193011753-199882947)x1	CFHR3, CFHR4 +22 more	Copy number loss	not provided	GPathogenic
Select item 1807694	GRCh37/hg19 1q31.1-32.1(chr1:189633885-199854163)x1	ASPM, ATP6V1G3 +28 more	Copy number loss	not provided	GLikely pathogenic
Select item 1527448	GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)	ACBD6, APOBEC4 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527437	GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)	ABL2, ACBD6 +82 more	Copy number loss	not specified	GPathogenic
Select item 1076360	NC_000001.10:g.(?_196918585)_(197742062_?)del	ASPM, CFHR2 +5 more	Deletion	Retinitis pigmentosa 12 +1 more	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CD34, MDM4 +145 more	Copy number gain	not provided	Gnot provided
Select item 814145	GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1	ABL2, ACBD6 +88 more	Copy number loss	not provided	GPathogenic
Select item 686360	GRCh37/hg19 1q31.3-32.1(chr1:196315481-200200856)x1	ASPM, ATP6V1G3 +18 more	Copy number loss	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442042	GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1	DENND1B, DHX9 +83 more	Copy number loss	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic

ClinVar

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Items: 49