GGCX[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 145403	GRCh38/hg38 2p12-11.2(chr2:77025216-90282666)x3	ATOH8, C2orf68 +302 more	Copy number gain	See cases	GPathogenic
Select item 153632	GRCh38/hg38 2p11.2(chr2:85014686-88826619)x1	ATOH8, C2orf68 +179 more	Copy number loss	See cases	GPathogenic
Select item 337172	NM_000821.7(GGCX):c.*4995dup	GGCX, MAT2A	Duplication (3 prime UTR variant)	Vitamin K-Dependent Clotting Factors	GUncertain significance
Select item 337171	NM_000821.7(GGCX):c.*4996del	GGCX, MAT2A	Deletion (3 prime UTR variant)	Vitamin K-Dependent Clotting Factors	GUncertain significance
Select item 337173	NM_000821.7(GGCX):c.*4895T>A	GGCX, MAT2A	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 898899	NM_000821.7(GGCX):c.*4848C>T	GGCX, MAT2A	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 898900	NM_000821.7(GGCX):c.*4840T>C	GGCX, MAT2A	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GBenign
Select item 898901	NM_000821.7(GGCX):c.*4798G>A	GGCX, MAT2A	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 337174	NM_000821.7(GGCX):c.*4744C>T	GGCX, MAT2A	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 337175	NM_000821.7(GGCX):c.*4726A>C	GGCX, MAT2A	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GLikely benign
Select item 895937	NM_000821.7(GGCX):c.*4720G>A	GGCX, MAT2A	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 895938	NM_000821.7(GGCX):c.*4681G>A	GGCX, MAT2A	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 337176	NM_000821.7(GGCX):c.*4579G>A	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GBenign
Select item 337177	NM_000821.7(GGCX):c.*4562G>A	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 337178	NM_000821.7(GGCX):c.*4538A>G	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-Dependent Clotting Factors	GUncertain significance
Select item 337179	NM_000821.7(GGCX):c.*4509G>A	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GBenign
Select item 895939	NM_000821.7(GGCX):c.*4475T>C	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 337180	NM_000821.7(GGCX):c.*4429G>A	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GBenign
Select item 896218	NM_000821.7(GGCX):c.*4413T>C	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 896219	NM_000821.7(GGCX):c.*4397G>A	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 896220	NM_000821.7(GGCX):c.*4366C>T	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 337181	NM_000821.7(GGCX):c.*4314T>C	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GLikely benign
Select item 337182	NM_000821.7(GGCX):c.*4288G>C	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 896221	NM_000821.7(GGCX):c.*4242C>G	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 337183	NM_000821.7(GGCX):c.*4215G>A	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 896222	NM_000821.7(GGCX):c.*4195T>G	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 897822	NM_000821.7(GGCX):c.*4078G>A	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 337184	NM_000821.7(GGCX):c.*4047T>C	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 337185	NM_000821.7(GGCX):c.*3996T>C	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GBenign
Select item 897823	NM_000821.7(GGCX):c.*3930T>C	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 337186	NM_000821.7(GGCX):c.*3924A>G	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 337187	NM_000821.7(GGCX):c.*3921G>A	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 337188	NM_000821.7(GGCX):c.*3875C>T	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GBenign
Select item 898974	NM_000821.7(GGCX):c.*3841T>A	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 337189	NM_000821.7(GGCX):c.*3821dup	GGCX	Duplication (3 prime UTR variant)	Vitamin K-Dependent Clotting Factors	GUncertain significance
Select item 337190	NM_000821.7(GGCX):c.*3805A>G	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GBenign
Select item 898975	NM_000821.7(GGCX):c.*3770T>C	GGCX	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 337191	NM_000821.7(GGCX):c.*3757T>C	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 898976	NM_000821.7(GGCX):c.*3756A>G	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 337192	NM_000821.7(GGCX):c.*3752G>A	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GBenign
Select item 337193	NM_000821.7(GGCX):c.*3704G>A	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 898977	NM_000821.7(GGCX):c.*3703C>T	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 337194	NM_000821.7(GGCX):c.*3647A>G	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 337195	NM_000821.7(GGCX):c.*3644G>C	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-Dependent Clotting Factors	GUncertain significance
Select item 337196	NM_000821.7(GGCX):c.*3630A>T	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 337197	NM_000821.7(GGCX):c.*3606G>A	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GBenign
Select item 894845	NM_000821.7(GGCX):c.*3584C>T	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 894846	NM_000821.7(GGCX):c.*3581C>T	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 337198	NM_000821.7(GGCX):c.3516_3517dup	GGCX	Duplication (3 prime UTR variant)	Vitamin K-Dependent Clotting Factors	GUncertain significance
Select item 337199	NM_000821.7(GGCX):c.*3517T>C	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 337200	NM_000821.7(GGCX):c.*3447del	GGCX	Deletion (3 prime UTR variant)	Vitamin K-Dependent Clotting Factors	GLikely benign
Select item 337201	NM_000821.7(GGCX):c.*3431C>T	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GBenign
Select item 337202	NM_000821.7(GGCX):c.*3416G>A	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GBenign
Select item 337203	NM_000821.7(GGCX):c.3401_3402dup	GGCX	Duplication (3 prime UTR variant)	Vitamin K-Dependent Clotting Factors	GBenign
Select item 337204	NM_000821.7(GGCX):c.*3398T>C	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GBenign
Select item 896285	NM_000821.7(GGCX):c.*3393C>T	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 337205	NM_000821.7(GGCX):c.3370_3372del	GGCX	Deletion (3 prime UTR variant)	Vitamin K-Dependent Clotting Factors	GLikely benign
Select item 896286	NM_000821.7(GGCX):c.*3269A>G	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 896287	NM_000821.7(GGCX):c.*3192C>T	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 896288	NM_000821.7(GGCX):c.*3177T>G	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 337206	NM_000821.7(GGCX):c.*3071T>C	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GBenign
Select item 896289	NM_000821.7(GGCX):c.*3067T>C	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GLikely benign
Select item 337207	NM_000821.7(GGCX):c.*3053A>G	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GBenign
Select item 337208	NM_000821.7(GGCX):c.*3047G>A	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GBenign
Select item 897904	NM_000821.7(GGCX):c.*3000A>G	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 337209	NM_000821.7(GGCX):c.*2974G>A	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GBenign
Select item 897905	NM_000821.7(GGCX):c.*2965C>A	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 337210	NM_000821.7(GGCX):c.*2949C>T	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GBenign
Select item 337211	NM_000821.7(GGCX):c.*2925G>C	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 337212	NM_000821.7(GGCX):c.*2889ACA[1]	GGCX	Microsatellite (3 prime UTR variant)	Vitamin K-Dependent Clotting Factors	GUncertain significance
Select item 897906	NM_000821.7(GGCX):c.*2892A>C	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 337213	NM_000821.7(GGCX):c.*2822C>T	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GLikely benign
Select item 899040	NM_000821.7(GGCX):c.*2811T>C	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GLikely benign
Select item 899041	NM_000821.7(GGCX):c.*2774A>G	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 899042	NM_000821.7(GGCX):c.*2740A>C	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 899043	NM_000821.7(GGCX):c.*2716A>G	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 337214	NM_000821.7(GGCX):c.*2647T>C	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 337215	NM_000821.7(GGCX):c.*2560A>G	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 899044	NM_000821.7(GGCX):c.*2490T>C	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 337216	NM_000821.7(GGCX):c.*2408T>C	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 337217	NM_000821.7(GGCX):c.*2381C>T	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GBenign
Select item 337218	NM_000821.7(GGCX):c.*2304T>C	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 337219	NM_000821.7(GGCX):c.*2299C>T	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 337220	NM_000821.7(GGCX):c.*2285T>A	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 337221	NM_000821.7(GGCX):c.*2284C>G	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 894914	NM_000821.7(GGCX):c.*2226C>T	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 337222	NM_000821.7(GGCX):c.*2060T>C	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 337223	NM_000821.7(GGCX):c.*1965G>T	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GBenign
Select item 337224	NM_000821.7(GGCX):c.*1916C>T	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GLikely benign
Select item 337225	NM_000821.7(GGCX):c.*1819A>C	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 337226	NM_000821.7(GGCX):c.*1736dup	GGCX	Duplication (3 prime UTR variant)	Vitamin K-Dependent Clotting Factors	GUncertain significance
Select item 896359	NM_000821.7(GGCX):c.*1727A>G	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 896358	NM_000821.7(GGCX):c.*1727A>T	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GBenign
Select item 896360	NM_000821.7(GGCX):c.*1725C>A	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 337227	NM_000821.7(GGCX):c.*1721G>A	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 896361	NM_000821.7(GGCX):c.*1712A>C	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 337228	NM_000821.7(GGCX):c.*1698A>G	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 897972	NM_000821.7(GGCX):c.*1686C>G	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 897973	NM_000821.7(GGCX):c.*1604G>A	GGCX	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance

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