ClinVar for Gene (Select 26035) - ClinVar

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Links from Gene

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3100116	NM_015554.3(GLCE):c.760A>C (p.Lys254Gln)	GLCE (K254Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100115	NM_015554.3(GLCE):c.439G>A (p.Asp147Asn)	GLCE (D147N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100113	NM_015554.3(GLCE):c.1667C>T (p.Ser556Leu)	GLCE (S299L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100112	NM_015554.3(GLCE):c.1451A>G (p.His484Arg)	GLCE (H227R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100111	NM_015554.3(GLCE):c.1031G>T (p.Arg344Ile)	GLCE (R344I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600235	NM_015554.3(GLCE):c.1358C>T (p.Thr453Ile)	GLCE (T453I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556536	NM_015554.3(GLCE):c.104A>G (p.Lys35Arg)	GLCE (K35R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536058	NM_015554.3(GLCE):c.1549A>C (p.Ile517Leu)	GLCE (I517L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525866	NM_015554.3(GLCE):c.121C>T (p.Arg41Trp)	GLCE (R41W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523388	NM_015554.3(GLCE):c.1190C>G (p.Ser397Cys)	GLCE (S397C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518073	NM_015554.3(GLCE):c.202G>A (p.Val68Met)	GLCE (V68M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	AAGAB, ABHD17C +209 more	Copy number gain	not provided	GPathogenic
Select item 2462918	NM_015554.3(GLCE):c.1357A>G (p.Thr453Ala)	GLCE (T453A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390691	NM_015554.3(GLCE):c.158A>C (p.Glu53Ala)	GLCE (E53A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390690	NM_015554.3(GLCE):c.1348G>A (p.Ala450Thr)	GLCE (A450T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387343	NM_015554.3(GLCE):c.52G>A (p.Ala18Thr)	GLCE (A18T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374270	NM_015554.3(GLCE):c.1103A>T (p.Lys368Ile)	GLCE (K111I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277451	NM_015554.3(GLCE):c.114G>T (p.Gln38His)	GLCE (Q38H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263132	NM_015554.3(GLCE):c.671A>G (p.Lys224Arg)	GLCE (K224R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214572	NM_015554.3(GLCE):c.1835G>A (p.Ser612Asn)	GLCE (S355N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809384	GRCh37/hg19 15q23(chr15:68807665-70981473)x3	ANP32A, CORO2B +8 more	Copy number gain	not provided	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ARPIN-AP3S2, COMMD4 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 787120	NM_015554.3(GLCE):c.248A>G (p.Lys83Arg)	GLCE (K83R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 784325	NM_015554.3(GLCE):c.1131C>G (p.Pro377=)	GLCE	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 685339	GRCh37/hg19 15q22.33-23(chr15:67369118-70481307)x1	AAGAB, ANP32A +19 more	Copy number loss	not provided	GPathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CSK, CSNK1G1 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	TRPM7, TSPAN3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	SLC24A1, SLC28A1 +310 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +279 more	Copy number gain	See cases	GPathogenic
Select item 221500	GRCh37/hg19 15q23(chr15:69079813-72040847)x3	THAP10, THSD4 +12 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057806, LOC130057807 +1763 more	Copy number gain	See cases	GPathogenic
Select item 57140	GRCh38/hg38 15q23-24.1(chr15:68830574-73823337)x1	ADPGK, ADPGK-AS1 +196 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 35