GUCA1C[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	LOC129937446, LOC129937447 +1343 more	Copy number gain	See cases	GPathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ADGRG7, ABHD10 +430 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	ALCAM, BTLA +637 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	ABHD10, ABI3BP +681 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +397 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 57243	GRCh38/hg38 3q13.11-13.13(chr3:103692220-109605902)x1	LOC129389108, LOC129389109 +89 more	Copy number loss	See cases	GPathogenic
Select item 57980	GRCh38/hg38 3q13.11-13.31(chr3:104621220-116093884)x3	LOC129937263, LOC129937264 +247 more	Copy number gain	See cases	GPathogenic
Select item 150361	GRCh38/hg38 3q13.11-13.13(chr3:106451492-109265496)x1	BBX, C3orf85 +61 more	Copy number loss	See cases	GPathogenic
Select item 57804	GRCh38/hg38 3q13.13-13.31(chr3:108242572-116169331)x1	ABHD10, ATG3 +185 more	Copy number loss	See cases	GPathogenic
Select item 2313235	NM_005459.4(GUCA1C):c.610G>A (p.Gly204Arg)	GUCA1C (G204R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2341790	NM_005459.4(GUCA1C):c.554G>C (p.Gly185Ala)	GUCA1C (G185A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2219668	NM_005459.4(GUCA1C):c.504T>G (p.Ile168Met)	GUCA1C (I168M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103250	NM_005459.4(GUCA1C):c.457G>C (p.Glu153Gln)	GUCA1C (E153Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493654	NM_005459.4(GUCA1C):c.451A>C (p.Thr151Pro)	GUCA1C (D164A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103249	NM_005459.4(GUCA1C):c.410T>C (p.Leu137Ser)	GUCA1C (L137S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 150604	GRCh38/hg38 3q13.13(chr3:108920434-109251009)x1	C3orf85, GUCA1C +4 more	Copy number loss	See cases	GUncertain significance
Select item 3103247	NM_005459.4(GUCA1C):c.338T>G (p.Leu113Arg)	GUCA1C (L113R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613987	NM_005459.4(GUCA1C):c.329A>G (p.Lys110Arg)	GUCA1C (K110R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467328	NM_005459.4(GUCA1C):c.272A>T (p.Gln91Leu)	GUCA1C (Q91L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302447	NM_005459.4(GUCA1C):c.272A>G (p.Gln91Arg)	GUCA1C (Q91R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612547	NM_005459.4(GUCA1C):c.262A>C (p.Lys88Gln)	GUCA1C (K88Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399732	NM_005459.4(GUCA1C):c.254T>G (p.Met85Arg)	GUCA1C (M85R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103246	NM_005459.4(GUCA1C):c.215T>C (p.Val72Ala)	GUCA1C (V72A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409030	NM_005459.4(GUCA1C):c.197C>T (p.Thr66Met)	GUCA1C (T66M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2590117	NM_005459.4(GUCA1C):c.43C>A (p.Pro15Thr)	GUCA1C (P15T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389403	NM_005459.4(GUCA1C):c.37G>A (p.Ala13Thr)	GUCA1C (A13T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685089	GRCh37/hg19 3q13.12-13.13(chr3:106530324-108811014)x1	BBX, CCDC54 +10 more	Copy number loss	not provided	GUncertain significance
Select item 1807773	GRCh37/hg19 3q13.12-13.31(chr3:107059705-115005256)x1	ABHD10, ATG3 +49 more	Copy number loss	not provided	GPathogenic
Select item 1703653	GRCh37/hg19 3q13.12-13.31(chr3:106598767-115704696)	ABHD10, ATG3 +51 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 974751	NC_000003.11:g.108481092_108926543del	MORC1, MORC1-AS1 +2 more	Deletion	Megacolon	GUncertain significance
Select item 814469	GRCh37/hg19 3q13.13(chr3:108483112-108911182)x1	TRAT1, MORC1-AS1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 814468	GRCh37/hg19 3q12.3-13.2(chr3:101812245-112174485)x1	ABHD10, ALCAM +29 more	Copy number loss	not provided	GPathogenic
Select item 562803	GRCh37/hg19 3q13.13(chr3:108597544-109019701)x3	MORC1, MORC1-AS1 +2 more	Copy number gain	not provided	GLikely benign
Select item 562802	GRCh37/hg19 3q13.13(chr3:108499505-108911182)x3	MORC1-AS1, MORC1 +2 more	Copy number gain	not provided	GLikely benign
Select item 562799	GRCh37/hg19 3q13.12-13.13(chr3:106706719-109171489)x1	MORC1-AS1, DZIP3 +13 more	Copy number loss	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 441867	GRCh37/hg19 3q13.13(chr3:108146914-108651271)x1	CIP2A, DZIP3 +4 more	Copy number loss	See cases	GUncertain significance
Select item 393800	GRCh37/hg19 3q13.11-13.32(chr3:105094834-117441953)x1	ABHD10, ALCAM +53 more	Copy number loss	See cases	GPathogenic
Select item 226150	GRCh37/hg19 3q13.13(chr3:108616806-109014594)	MORC1-AS1, MORC1 +2 more	Copy number gain	Abnormal esophagus morphology	GLikely benign

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Items: 41