ClinVar for Gene (Select 283237) - ClinVar

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Links from Gene

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3184413	NM_173810.4(TTC9C):c.383G>A (p.Arg128His)	TTC9C (R128H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184412	NM_173810.4(TTC9C):c.32A>T (p.Tyr11Phe)	TTC9C (Y11F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184411	NM_173810.4(TTC9C):c.329C>A (p.Ala110Asp)	TTC9C (A110D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184410	NM_173810.4(TTC9C):c.224A>G (p.Tyr75Cys)	TTC9C (Y75C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3184409	NM_173810.4(TTC9C):c.142C>T (p.Pro48Ser)	TTC9C (P48S)	Single nucleotide variant (missense variant +2 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 2548299	NM_173810.4(TTC9C):c.189A>T (p.Gln63His)	TTC9C (Q63H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2519974	NM_173810.4(TTC9C):c.349G>T (p.Ala117Ser)	TTC9C (A33S +1 more)	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 2351862	NM_173810.4(TTC9C):c.70T>C (p.Tyr24His)	TTC9C (Y24H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343367	NM_173810.4(TTC9C):c.58C>T (p.Arg20Trp)	TTC9C (R20W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334842	NM_173810.4(TTC9C):c.436C>T (p.Arg146Trp)	TTC9C (R62W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305479	NM_173810.4(TTC9C):c.503G>C (p.Gly168Ala)	TTC9C (G168A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281078	NM_173810.4(TTC9C):c.165G>C (p.Gln55His)	TTC9C (Q55H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2274554	NM_173810.4(TTC9C):c.101C>T (p.Ala34Val)	TTC9C (A34V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2210154	NM_173810.4(TTC9C):c.476A>G (p.His159Arg)	TTC9C (H159R +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: 29