23295[HGNC] - ClinVar

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Items: 39

	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 2461112	NM_023930.4(KCTD14):c.728T>G (p.Phe243Cys)	KCTD14, NDUFC2-KCTD14 (F213C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2248158	NM_023930.4(KCTD14):c.694T>A (p.Phe232Ile)	KCTD14, NDUFC2-KCTD14 (F232I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2410152	NM_023930.4(KCTD14):c.671A>C (p.Gln224Pro)	KCTD14, NDUFC2-KCTD14 (Q224P +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2508697	NM_023930.4(KCTD14):c.634G>A (p.Asp212Asn)	KCTD14, NDUFC2-KCTD14 (D182N +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3113614	NM_023930.4(KCTD14):c.618G>A (p.Ala206=)	KCTD14, NDUFC2-KCTD14	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2300202	NM_023930.4(KCTD14):c.539C>T (p.Ala180Val)	KCTD14, NDUFC2-KCTD14 (A150V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2526815	NM_023930.4(KCTD14):c.529G>A (p.Glu177Lys)	KCTD14, NDUFC2-KCTD14 (E147K +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3113613	NM_023930.4(KCTD14):c.517G>C (p.Val173Leu)	KCTD14, NDUFC2-KCTD14 (V143L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2598142	NM_023930.4(KCTD14):c.482T>A (p.Ile161Lys)	KCTD14, NDUFC2-KCTD14 (I131K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516445	NM_023930.4(KCTD14):c.461G>A (p.Arg154His)	KCTD14, NDUFC2-KCTD14 (R154H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3113612	NM_023930.4(KCTD14):c.439G>A (p.Glu147Lys)	KCTD14, NDUFC2-KCTD14 (E117K +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3287815	NM_023930.4(KCTD14):c.386T>G (p.Phe129Cys)	KCTD14, NDUFC2-KCTD14 (F129C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2367031	NM_023930.4(KCTD14):c.340G>A (p.Glu114Lys)	KCTD14, NDUFC2-KCTD14 (E114K +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3287816	NM_023930.4(KCTD14):c.327G>T (p.Glu109Asp)	KCTD14, NDUFC2-KCTD14 (E79D +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3113611	NM_023930.4(KCTD14):c.242G>A (p.Arg81His)	KCTD14, NDUFC2-KCTD14 (R51H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2351853	NM_023930.4(KCTD14):c.238G>A (p.Asp80Asn)	KCTD14, NDUFC2-KCTD14 (D50N +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2380079	NM_023930.4(KCTD14):c.133A>G (p.Thr45Ala)	KCTD14, NDUFC2-KCTD14 (T15A +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2494666	NM_023930.4(KCTD14):c.132C>A (p.His44Gln)	KCTD14, NDUFC2-KCTD14 (H44Q +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3113610	NM_023930.4(KCTD14):c.118G>A (p.Gly40Arg)	KCTD14, NDUFC2-KCTD14 (R113Q +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2524501	NM_023930.4(KCTD14):c.115G>T (p.Val39Phe)	KCTD14, NDUFC2-KCTD14 (R112L +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3113615	NM_023930.4(KCTD14):c.68C>A (p.Ser23Tyr)	KCTD14, NDUFC2-KCTD14 (S23Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300833	NM_001203260.2(NDUFC2-KCTD14):c.367G>A (p.Val123Met)	KCTD14, NDUFC2-KCTD14 (V75M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3188061	NM_001203260.2(NDUFC2-KCTD14):c.326T>C (p.Leu109Pro)	KCTD14, NDUFC2-KCTD14 (L61P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2360966	NM_001203260.2(NDUFC2-KCTD14):c.314G>T (p.Gly105Val)	KCTD14, NDUFC2-KCTD14 (G57V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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 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: 39