CLNS1A[Gene Name] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	CHORDC1, GDPD4 +474 more	Copy number loss	See cases	GPathogenic
Select item 3145936	NM_001293.3(CLNS1A):c.647A>G (p.Asp216Gly)	CLNS1A (D158G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540745	NM_001293.3(CLNS1A):c.607G>T (p.Ala203Ser)	CLNS1A (A169S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241690	NM_001293.3(CLNS1A):c.527A>T (p.His176Leu)	CLNS1A (H176L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599529	NM_001293.3(CLNS1A):c.492C>G (p.Ile164Met)	CLNS1A (I94M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406589	NM_001293.3(CLNS1A):c.455A>G (p.Tyr152Cys)	CLNS1A (Y118C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486919	NM_001293.3(CLNS1A):c.391G>C (p.Glu131Gln)	CLNS1A (E97Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218809	NM_001293.3(CLNS1A):c.170A>G (p.Glu57Gly)	CLNS1A (E57G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531690	NM_001293.3(CLNS1A):c.163T>G (p.Ser55Ala)	CLNS1A (S55A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808749	GRCh37/hg19 11q14.1(chr11:77211136-78014355)x3	AAMDC, ALG8 +11 more	Copy number gain	not provided	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 688758	GRCh37/hg19 11q14.1(chr11:77276494-77430704)x3	AQP11, CLNS1A +1 more	Copy number gain	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 563857	GRCh37/hg19 11q13.5-14.1(chr11:76895239-77568340)x3	PAK1, AQP11 +5 more	Copy number gain	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	B3GAT3, B3GNT6 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	PTPMT1, PTPN5 +1289 more	Copy number gain	See cases	GPathogenic