TSKU[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	See cases	GPathogenic
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	AAMDC, ACER3 +474 more	Copy number loss	See cases	GPathogenic
Select item 2642174	NM_015516.4(TSKU):c.30C>T (p.Ala10=)	TSKU	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2348492	NM_015516.4(TSKU):c.31G>A (p.Val11Met)	TSKU (V11M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236056	NM_015516.4(TSKU):c.31G>C (p.Val11Leu)	TSKU (V11L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454293	NM_015516.4(TSKU):c.151A>T (p.Ile51Phe)	TSKU (I51F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265974	NM_015516.4(TSKU):c.158C>T (p.Pro53Leu)	TSKU (P67L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377732	NM_015516.4(TSKU):c.242C>G (p.Pro81Arg)	TSKU (P95R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183744	NM_015516.4(TSKU):c.308C>T (p.Ala103Val)	TSKU (A117V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534014	NM_015516.4(TSKU):c.308C>A (p.Ala103Asp)	TSKU (A103D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183745	NM_015516.4(TSKU):c.323G>A (p.Arg108His)	TSKU (R108H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183746	NM_015516.4(TSKU):c.335C>T (p.Ser112Leu)	TSKU (S112L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364977	NM_015516.4(TSKU):c.364G>A (p.Ala122Thr)	TSKU (A136T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369049	NM_015516.4(TSKU):c.403G>A (p.Asp135Asn)	TSKU (D135N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345786	NM_015516.4(TSKU):c.430C>T (p.Arg144Trp)	TSKU (R158W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538276	NM_015516.4(TSKU):c.458C>T (p.Thr153Met)	TSKU (T153M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313931	NM_015516.4(TSKU):c.482A>C (p.His161Pro)	TSKU (H161P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1648289	NM_015516.4(TSKU):c.484G>T (p.Val162Leu)	TSKU (V162L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2471863	NM_015516.4(TSKU):c.497A>C (p.His166Pro)	TSKU (H166P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314532	NM_015516.4(TSKU):c.512G>A (p.Arg171His)	TSKU (R171H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463558	NM_015516.4(TSKU):c.530C>T (p.Thr177Met)	TSKU (T177M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394268	NM_015516.4(TSKU):c.548C>T (p.Ala183Val)	TSKU (A197V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597773	NM_015516.4(TSKU):c.595G>A (p.Val199Met)	TSKU (V199M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183748	NM_015516.4(TSKU):c.671C>T (p.Ala224Val)	TSKU (A224V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346456	NM_015516.4(TSKU):c.671C>A (p.Ala224Asp)	TSKU (A224D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373734	NM_015516.4(TSKU):c.730G>C (p.Glu244Gln)	TSKU (E258Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2328310	NM_015516.4(TSKU):c.737C>T (p.Ala246Val)	TSKU (A260V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288538	NM_015516.4(TSKU):c.751C>T (p.Arg251Cys)	TSKU (R265C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183750	NM_015516.4(TSKU):c.860C>T (p.Ser287Leu)	TSKU (S287L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183751	NM_015516.4(TSKU):c.871C>G (p.Leu291Val)	TSKU (L291V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183752	NM_015516.4(TSKU):c.898C>T (p.Leu300Phe)	TSKU (L300F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183753	NM_015516.4(TSKU):c.958G>C (p.Val320Leu)	TSKU (V320L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183754	NM_015516.4(TSKU):c.983G>C (p.Arg328Thr)	TSKU (R328T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302290	NM_015516.4(TSKU):c.1003G>T (p.Val335Leu)	TSKU (V335L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642175	NM_015516.4(TSKU):c.1026C>T (p.Thr342=)	TSKU	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3183743	NM_015516.4(TSKU):c.1027C>T (p.Arg343Trp)	TSKU (R343W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304510	NM_015516.4(TSKU):c.1033T>C (p.Ser345Pro)	TSKU (S359P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815441	GRCh37/hg19 11q13.5(chr11:76238742-76537128)x1	EMSY, LRRC32 +1 more	Copy number loss	not provided	GUncertain significance
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 44