LOC126806895[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ZMAT3, ZNF639 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	LOC129938282, LOC129938283 +866 more	Copy number gain	See cases	GPathogenic
Select item 224832	NC_000003.12:g.177772523_185716872dup	ALG3, AP2M1 +280 more	Duplication	Currarino triad	GLikely pathogenic
Select item 153734	GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1	ABCC5, ABCC5-AS1 +399 more	Copy number loss	See cases	GPathogenic
Select item 153971	GRCh38/hg38 3q26.33-27.3(chr3:182319764-186443121)x1	ABCC5, ABCC5-AS1 +205 more	Copy number loss	See cases	GLikely pathogenic
Select item 3238952	GRCh38/hg38 3q27.1-27.2(chr3:183020090-185760128)x1	LOC121048724, LOC121048725 +160 more	Copy number loss	Esodeviation +7 more	GPathogenic
Select item 151178	GRCh38/hg38 3q27.1-27.2(chr3:184010704-186288926)x1	ABCC5, ABCC5-AS1 +126 more	Copy number loss	See cases	GLikely pathogenic
Select item 150107	GRCh38/hg38 3q27.2-27.3(chr3:184843627-187461008)x3	ADIPOQ, ADIPOQ-AS1 +131 more	Copy number gain	See cases	GPathogenic
Select item 152989	GRCh38/hg38 3q27.2(chr3:185151277-185558406)x1	C3orf70, EHHADH +22 more	Copy number loss	See cases	GPathogenic
Select item 3293015	NM_004721.5(MAP3K13):c.2513G>A (p.Cys838Tyr)	LOC126806895, MAP3K13 (C838Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122869	NM_004721.5(MAP3K13):c.2516T>C (p.Ile839Thr)	LOC126806895, MAP3K13 (I632T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322056	NM_004721.5(MAP3K13):c.2594A>G (p.Asp865Gly)	LOC126806895, MAP3K13 (D658G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254178	NM_004721.5(MAP3K13):c.2638C>T (p.Arg880Cys)	LOC126806895, MAP3K13 (R673C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543746	NM_004721.5(MAP3K13):c.2647G>A (p.Glu883Lys)	LOC126806895, MAP3K13 (E883K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293011	NM_004721.5(MAP3K13):c.2674A>G (p.Thr892Ala)	LOC126806895, MAP3K13 (T685A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351367	NM_004721.5(MAP3K13):c.2743C>T (p.Arg915Cys)	LOC126806895, MAP3K13 (R915C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 25