ClinVar for Gene (Select 79073) - ClinVar

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Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3178439	NM_024092.3(TMEM109):c.713G>A (p.Arg238His)	TMEM109 (R238H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178438	NM_024092.3(TMEM109):c.686G>A (p.Arg229His)	TMEM109 (R229H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178437	NM_024092.3(TMEM109):c.601C>T (p.Arg201Trp)	TMEM109 (R201W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178436	NM_024092.3(TMEM109):c.511G>A (p.Gly171Ser)	TMEM109 (G171S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178435	NM_024092.3(TMEM109):c.157G>T (p.Val53Phe)	LOC126861221, TMEM109 (V53F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2601782	NM_024092.3(TMEM109):c.185G>A (p.Arg62Gln)	LOC126861221, TMEM109 (R62Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597044	NM_024092.3(TMEM109):c.712C>T (p.Arg238Cys)	TMEM109 (R238C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521692	NM_024092.3(TMEM109):c.307G>A (p.Ala103Thr)	TMEM109 (A103T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485711	NM_024092.3(TMEM109):c.125C>G (p.Pro42Arg)	LOC126861221, TMEM109 (P42R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462424	NM_024092.3(TMEM109):c.680G>A (p.Arg227His)	TMEM109 (R227H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461328	NM_024092.3(TMEM109):c.685C>T (p.Arg229Cys)	TMEM109 (R229C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2403789	NM_024092.3(TMEM109):c.617G>A (p.Arg206Gln)	TMEM109 (R206Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398693	NM_024092.3(TMEM109):c.352G>A (p.Ala118Thr)	TMEM109 (A118T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2384062	NM_024092.3(TMEM109):c.633A>C (p.Gln211His)	TMEM109 (Q211H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378662	NM_024092.3(TMEM109):c.695G>C (p.Arg232Pro)	TMEM109 (R232P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326625	NM_024092.3(TMEM109):c.509C>A (p.Ala170Asp)	TMEM109 (A170D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815435	GRCh37/hg19 11q12.2-12.3(chr11:60385382-62456278)x3	CD5, CD6 +58 more	Copy number gain	not provided	GUncertain significance
Select item 687991	GRCh37/hg19 11q12.2(chr11:60499486-61529578)x3	CCDC86, CD5 +27 more	Copy number gain	not provided	GUncertain significance
Select item 563873	GRCh37/hg19 11q12.1-12.3(chr11:58935215-62177656)x3	ASRGL1, BEST1 +72 more	Copy number gain	not provided	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 28