THRSP[gene] - ClinVar

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Items: 26

	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	LOC130006570, LOC130006571 +474 more	Copy number loss	See cases	GPathogenic
Select item 2516755	NM_003251.4(THRSP):c.29A>G (p.Lys10Arg)	NDUFC2-KCTD14, THRSP (K10R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325967	NM_003251.4(THRSP):c.56G>A (p.Arg19Gln)	NDUFC2-KCTD14, THRSP (R19Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236841	NM_003251.4(THRSP):c.92T>C (p.Val31Ala)	NDUFC2-KCTD14, THRSP (V31A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337763	NM_003251.4(THRSP):c.112C>T (p.Arg38Trp)	NDUFC2-KCTD14, THRSP (R38W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546226	NM_003251.4(THRSP):c.118G>A (p.Val40Met)	NDUFC2-KCTD14, THRSP (V40M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364753	NM_003251.4(THRSP):c.229C>T (p.Arg77Trp)	NDUFC2-KCTD14, THRSP (R77W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325966	NM_003251.4(THRSP):c.238T>A (p.Trp80Arg)	NDUFC2-KCTD14, THRSP (W80R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177136	NM_003251.4(THRSP):c.282G>C (p.Glu94Asp)	NDUFC2-KCTD14, THRSP (E94D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325968	NM_003251.4(THRSP):c.331G>A (p.Ala111Thr)	NDUFC2-KCTD14, THRSP (A111T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 771892	NM_003251.4(THRSP):c.425C>T (p.Thr142Met)	NDUFC2-KCTD14, THRSP (T142M)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2685050	GRCh37/hg19 11q14.1(chr11:77541456-77832469)x4	AAMDC, ALG8 +5 more	Copy number gain	not provided	GUncertain significance
Select item 2684649	GRCh37/hg19 11q14.1(chr11:77410576-77785957)x3	AAMDC, INTS4 +5 more	Copy number gain	not provided	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	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527653	GRCh37/hg19 11q14.1(chr11:77776112-77921527)	ALG8, KCTD21 +4 more	Copy number loss	not specified	GUncertain significance
Select item 1527652	GRCh37/hg19 11q14.1(chr11:77415541-77785783)	AAMDC, INTS4 +5 more	Copy number gain	not specified	GUncertain significance
Select item 1177498	GRCh37/hg19 11q14.1(chr11:77617820-77784237)x3	INTS4, KCTD14 +3 more	Copy number gain	not provided	Gnot provided
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 980957	GRCh37/hg19 11q14.1(chr11:77575261-77902589)x3	AAMDC, ALG8 +7 more	Copy number gain	not provided	GUncertain significance
Select item 688702	GRCh37/hg19 11q14.1(chr11:77410575-77785783)x3	AAMDC, INTS4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 688177	GRCh37/hg19 11q14.1(chr11:77410575-77785783)x3	AAMDC, INTS4 +5 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 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

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Items: 26