ClinVar for Gene (Select 374395) - ClinVar

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Links from Gene

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3326876	NM_199337.3(TMEM179B):c.56T>C (p.Leu19Pro)	TMEM179B, TMEM223 (L19P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326875	NM_199337.3(TMEM179B):c.332T>C (p.Val111Ala)	TMEM223, TMEM179B (V111A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326874	NM_199337.3(TMEM179B):c.70G>A (p.Ala24Thr)	TMEM179B, TMEM223 (A24T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326873	NM_199337.3(TMEM179B):c.271G>A (p.Glu91Lys)	TMEM223, TMEM179B (E91K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179005	NM_199337.3(TMEM179B):c.509G>C (p.Trp170Ser)	TMEM179B, TMEM223 (W156S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179004	NM_199337.3(TMEM179B):c.34G>C (p.Ala12Pro)	TMEM179B, TMEM223 (A12P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179003	NM_199337.3(TMEM179B):c.269T>C (p.Ile90Thr)	TMEM179B, TMEM223 (I90T)	Single nucleotide variant (missense variant +1 more)	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 2611467	NM_199337.3(TMEM179B):c.481A>G (p.Asn161Asp)	TMEM179B, TMEM223 (N106D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557157	NM_199337.3(TMEM179B):c.22C>A (p.Arg8Ser)	TMEM179B, TMEM223 (R8S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485426	NM_199337.3(TMEM179B):c.549G>C (p.Gln183His)	TMEM179B, TMEM223 (Q128H +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2459428	NM_199337.3(TMEM179B):c.517T>A (p.Leu173Met)	TMEM179B, TMEM223 (L118M +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	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 2407541	NM_199337.3(TMEM179B):c.644G>A (p.Arg215His)	TMEM179B, TMEM223 (R160H +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2387156	NM_199337.3(TMEM179B):c.31C>G (p.Leu11Val)	TMEM179B, TMEM223 (L11V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361688	NM_199337.3(TMEM179B):c.286G>C (p.Gly96Arg)	TMEM179B, TMEM223 (G41R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334225	NM_199337.3(TMEM179B):c.37C>G (p.Leu13Val)	TMEM179B, TMEM223 (L13V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315572	NM_199337.3(TMEM179B):c.461C>G (p.Thr154Ser)	TMEM179B, TMEM223 (T140S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308981	NM_199337.3(TMEM179B):c.169C>T (p.Pro57Ser)	TMEM179B, TMEM223 (P57S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279650	NM_199337.3(TMEM179B):c.452C>T (p.Pro151Leu)	TMEM179B, TMEM223 (P137L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278218	NM_199337.3(TMEM179B):c.304A>G (p.Ile102Val)	TMEM179B, TMEM223 (I102V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 689150	GRCh37/hg19 11q12.3(chr11:62314663-62788240)x3	B3GAT3, BSCL2 +36 more	Copy number gain	not provided	GUncertain significance
Select item 685584	GRCh37/hg19 11q12.3(chr11:62487052-62788240)x3	CHRM1, HNRNPUL2 +21 more	Copy number gain	not provided	GUncertain significance
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
Select item 394819	GRCh37/hg19 11q12.3(chr11:61840997-62987330)x1	AHNAK, ASRGL1 +47 more	Copy number loss	See cases	GLikely pathogenic
Select item 149385	GRCh38/hg38 11q12.3(chr11:62249520-62946093)x3	AHNAK, ASRGL1 +110 more	Copy number gain	See cases	GPathogenic
Select item 145432	GRCh38/hg38 11q12.3(chr11:62562836-62840570)x3	B3GAT3, BSCL2 +70 more	Copy number gain	See cases	GUncertain significance
Select item 59755	GRCh38/hg38 11q12.3(chr11:62452571-62862781)x3	AHNAK, B3GAT3 +95 more	Copy number gain	See cases	GPathogenic
Select item 59754	GRCh38/hg38 11q12.3(chr11:62433886-63096003)x3	AHNAK, B3GAT3 +105 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 34