GDE1[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	LOC125146428, LOC125146429 +400 more	Copy number gain	See cases	GPathogenic
Select item 3099211	NM_016641.4(GDE1):c.984A>C (p.Glu328Asp)	GDE1 (E218D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099209	NM_016641.4(GDE1):c.979T>G (p.Cys327Gly)	GDE1 (C217G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548700	NM_016641.4(GDE1):c.953A>G (p.Tyr318Cys)	GDE1 (Y208C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312889	NM_016641.4(GDE1):c.923G>C (p.Ser308Thr)	GDE1 (S277T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099207	NM_016641.4(GDE1):c.869C>T (p.Ser290Leu)	GDE1 (S259L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220601	NM_016641.4(GDE1):c.826A>T (p.Met276Leu)	GDE1 (M245L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3281108	NM_016641.4(GDE1):c.772G>C (p.Asp258His)	GDE1 (D258H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099206	NM_016641.4(GDE1):c.763A>G (p.Ile255Val)	GDE1 (I145V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550178	NM_016641.4(GDE1):c.601G>T (p.Val201Leu)	GDE1 (V201L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2255429	NM_016641.4(GDE1):c.472A>G (p.Arg158Gly)	GDE1 (R158G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099203	NM_016641.4(GDE1):c.436A>G (p.Arg146Gly)	GDE1 (R146G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3281107	NM_016641.4(GDE1):c.374G>A (p.Arg125Gln)	GDE1 (R125Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235492	NM_016641.4(GDE1):c.328T>G (p.Leu110Val)	GDE1 (L110V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3099202	NM_016641.4(GDE1):c.190C>G (p.Arg64Gly)	GDE1 (R64G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3099201	NM_016641.4(GDE1):c.189C>G (p.Asp63Glu)	GDE1 (D63E)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2233346	NM_016641.4(GDE1):c.175C>T (p.Leu59Phe)	GDE1 (L59F)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2316700	NM_016641.4(GDE1):c.135C>A (p.Phe45Leu)	GDE1 (F45L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2459459	NM_016641.4(GDE1):c.104C>G (p.Thr35Ser)	GDE1 (T35S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3099208	NM_016641.4(GDE1):c.95G>C (p.Cys32Ser)	GDE1 (C32S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 768758	NM_016641.4(GDE1):c.93C>G (p.Ala31=)	GDE1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 2326130	NM_016641.4(GDE1):c.80G>A (p.Ser27Asn)	GDE1 (S27N)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3099205	NM_016641.4(GDE1):c.71T>C (p.Val24Ala)	GDE1 (V24A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2684798	GRCh37/hg19 16p12.3(chr16:19046826-19831178)x3	CCP110, CLEC19A +9 more	Copy number gain	not provided	GUncertain significance
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 443422	GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3	ACSM1, ACSM2A +128 more	Copy number gain	See cases	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 395601	GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3	ACSM1, ACSM2A +119 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221512	GRCh37/hg19 16p12.3(chr16:19083339-19586433)x4	CCP110, CLEC19A +6 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 40