55765[geneid] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 144143	GRCh38/hg38 1q32.1(chr1:200144603-203112078)x1	LOC120893174, LOC122149340 +166 more	Copy number loss	See cases	GPathogenic
Select item 779223	NM_018265.4(INAVA):c.63G>C (p.Arg21=)	INAVA, LOC122149340	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 709585	NM_018265.4(INAVA):c.63G>A (p.Arg21=)	INAVA, LOC122149340	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 786759	NM_001142569.3(INAVA):c.44T>A (p.Ile15Asn)	INAVA (I15N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1696496	NM_001142569.3(INAVA):c.178G>T (p.Ala60Ser)	INAVA (A145S +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 29	GUncertain significance
Select item 744622	NM_001142569.3(INAVA):c.188C>T (p.Thr63Met)	INAVA (T148M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 781798	NM_001142569.3(INAVA):c.255C>T (p.Ile85=)	INAVA	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3109604	NM_001142569.3(INAVA):c.735C>A (p.Asp245Glu)	INAVA (D330E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 559449	NM_001142569.3(INAVA):c.743A>T (p.Tyr248Phe)	INAVA (Y333F +2 more)	Single nucleotide variant (missense variant)	Inflammatory bowel disease 29	GUncertain significance
Select item 2639730	NM_001142569.3(INAVA):c.1080G>A (p.Leu360=)	INAVA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1690626	NM_001142569.3(INAVA):c.1196C>G (p.Ser399Cys)	INAVA (S220C +2 more)	Single nucleotide variant (missense variant)	See cases	GLikely benign
Select item 3109605	NM_001142569.3(INAVA):c.1258G>A (p.Ala420Thr)	INAVA (A420T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767740	NM_001142569.3(INAVA):c.1357C>T (p.Arg453Cys)	INAVA (R538C +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 781799	NM_001142569.3(INAVA):c.1405C>T (p.Arg469Cys)	INAVA (R554C +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 3062955	GRCh37/hg19 1q32.1(chr1:199373229-204335027)x3	ADIPOR1, ADORA1 +58 more	Copy number gain	not specified	GLikely pathogenic
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 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	ADIPOR1, ADORA1 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	ADIPOR1, ADORA1 +110 more	Duplication	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 1808085	GRCh37/hg19 1q32.1(chr1:200795738-201013947)x3	CACNA1S, CAMSAP2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1527448	GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)	ACBD6, APOBEC4 +98 more	Copy number loss	not specified	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 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 565211	GRCh37/hg19 1q32.1(chr1:200873507-201947585)x3	ASCL5, CACNA1S +15 more	Copy number gain	not provided	GUncertain significance
Select item 565210	GRCh37/hg19 1q32.1(chr1:200799541-201011646)x3	CACNA1S, CAMSAP2 +3 more	Copy number gain	not provided	GUncertain significance
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 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

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Items: 33