10629[Gene ID] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149385	GRCh38/hg38 11q12.3(chr11:62249520-62946093)x3	AHNAK, ASRGL1 +110 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
Select item 59755	GRCh38/hg38 11q12.3(chr11:62452571-62862781)x3	AHNAK, B3GAT3 +95 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 3173563	NM_006473.4(TAF6L):c.101C>T (p.Ala34Val)	TAF6L, TMEM223 (A34V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379929	NM_006473.4(TAF6L):c.257A>T (p.Gln86Leu)	TAF6L, TMEM223 (Q86L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173571	NM_006473.4(TAF6L):c.289G>A (p.Gly97Ser)	TAF6L, TMEM223 (G97S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243295	NM_006473.4(TAF6L):c.310G>C (p.Asp104His)	TAF6L, TMEM223 (D104H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467785	NM_006473.4(TAF6L):c.490G>A (p.Val164Met)	TAF6L, TMEM223 (V164M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392752	NM_006473.4(TAF6L):c.566T>C (p.Ile189Thr)	TAF6L, TMEM223 (I189T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387716	NM_006473.4(TAF6L):c.572C>T (p.Ala191Val)	TAF6L, TMEM223 (A191V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593373	NM_006473.4(TAF6L):c.577C>G (p.Leu193Val)	TAF6L, TMEM223 (L193V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237462	NM_006473.4(TAF6L):c.674G>A (p.Arg225His)	TAF6L, TMEM223 (R225H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324284	NM_006473.4(TAF6L):c.677A>C (p.Asn226Thr)	TAF6L, TMEM223 (N226T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173572	NM_006473.4(TAF6L):c.707G>A (p.Arg236His)	TAF6L, TMEM223 (R236H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173573	NM_006473.4(TAF6L):c.764A>G (p.Asn255Ser)	TAF6L, TMEM223 (N255S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546102	NM_006473.4(TAF6L):c.815G>A (p.Ser272Asn)	TAF6L, TMEM223 (S272N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173574	NM_006473.4(TAF6L):c.848G>A (p.Ser283Asn)	TAF6L, TMEM223 (S283N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399213	NM_006473.4(TAF6L):c.859C>A (p.Gln287Lys)	TAF6L, TMEM223 (Q287K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173575	NM_006473.4(TAF6L):c.931G>A (p.Val311Met)	TAF6L, TMEM223 (V311M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518721	NM_006473.4(TAF6L):c.1196G>A (p.Ser399Asn)	LOC130005860, TAF6L +1 more (S399N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220341	NM_006473.4(TAF6L):c.1196G>C (p.Ser399Thr)	LOC130005860, TAF6L +1 more (S399T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260567	NM_006473.4(TAF6L):c.1226G>A (p.Gly409Asp)	LOC130005860, TAF6L +1 more (G409D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324282	NM_006473.4(TAF6L):c.1295C>T (p.Ser432Phe)	TAF6L, TMEM223 (S432F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330479	NM_006473.4(TAF6L):c.1384G>T (p.Ala462Ser)	TAF6L, TMEM223 (A462S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341597	NM_006473.4(TAF6L):c.1402C>G (p.Pro468Ala)	TAF6L, TMEM223 (P468A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173564	NM_006473.4(TAF6L):c.1448G>A (p.Arg483Gln)	TAF6L, TMEM223 (R483Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173566	NM_006473.4(TAF6L):c.1495G>C (p.Asp499His)	TAF6L, TMEM223 (D499H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173565	NM_006473.4(TAF6L):c.1495G>A (p.Asp499Asn)	TAF6L, TMEM223 (D499N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379186	NM_006473.4(TAF6L):c.1507C>T (p.Arg503Trp)	LOC130005861, TAF6L +1 more (R503W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521230	NM_006473.4(TAF6L):c.1537G>T (p.Ala513Ser)	LOC130005861, TAF6L +1 more (A513S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612255	NM_006473.4(TAF6L):c.1555T>C (p.Ser519Pro)	LOC130005861, TAF6L +1 more (S519P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173567	NM_006473.4(TAF6L):c.1611G>C (p.Gln537His)	TAF6L, TMEM223 (Q537H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212212	NM_006473.4(TAF6L):c.1676A>T (p.His559Leu)	TAF6L, TMEM223 (H559L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605278	NM_006473.4(TAF6L):c.1700G>A (p.Arg567Gln)	TAF6L, TMEM223 (R567Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324283	NM_006473.4(TAF6L):c.1772C>T (p.Ala591Val)	TAF6L, TMEM223 (A591V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324285	NM_006473.4(TAF6L):c.1793T>C (p.Leu598Pro)	TAF6L, TMEM223 (L598P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173568	NM_006473.4(TAF6L):c.1813A>G (p.Ser605Gly)	TAF6L, TMEM223 (S605G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2393800	NM_006473.4(TAF6L):c.1819C>T (p.Pro607Ser)	TAF6L, TMEM223 (P607S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219915	NM_006473.4(TAF6L):c.1822G>A (p.Ala608Thr)	TAF6L, TMEM223 (A608T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220552	NM_006473.4(TAF6L):c.1838T>G (p.Leu613Arg)	TAF6L, TMEM223 (L613R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173569	NM_006473.4(TAF6L):c.1847A>T (p.Tyr616Phe)	TAF6L, TMEM223 (Y616F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608530	NM_006473.4(TAF6L):c.1864C>G (p.Leu622Val)	TAF6L, TMEM223 (L622V)	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 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	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

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Items: 54