24168[HGNC] - ClinVar

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Items: 36

	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 155201	GRCh38/hg38 11q13.4(chr11:74648822-74907890)x1	CHRDL2, LOC108281147 +7 more	Copy number loss	See cases	GUncertain significance
Select item 2225706	NM_001278473.3(CHRDL2):c.1279A>T (p.Thr427Ser)	CHRDL2 (T427S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267128	NM_001278473.3(CHRDL2):c.1225G>A (p.Val409Ile)	CHRDL2 (R362H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144570	NM_001278473.3(CHRDL2):c.1197C>T (p.Leu399=)	CHRDL2, LOC126861264 (R398C +3 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2553485	NM_001278473.3(CHRDL2):c.1085A>G (p.Asp362Gly)	CHRDL2 (D342G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318355	NM_001278473.3(CHRDL2):c.1082C>T (p.Ser361Leu)	CHRDL2 (S276L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265399	NM_001278473.3(CHRDL2):c.1069G>A (p.Glu357Lys)	CHRDL2 (E292K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549771	NM_001278473.3(CHRDL2):c.1018G>A (p.Val340Ile)	CHRDL2 (V275I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144568	NM_001278473.3(CHRDL2):c.1009C>T (p.Arg337Trp)	CHRDL2 (R221W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267133	NM_001278473.3(CHRDL2):c.995C>T (p.Pro332Leu)	CHRDL2 (P312L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212247	NM_001278473.3(CHRDL2):c.986C>G (p.Thr329Ser)	CHRDL2 (T264S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144575	NM_001278473.3(CHRDL2):c.902G>A (p.Arg301His)	CHRDL2 (R185H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2331902	NM_001278473.3(CHRDL2):c.872G>A (p.Arg291His)	CHRDL2 (R271H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381316	NM_001278473.3(CHRDL2):c.848A>G (p.Glu283Gly)	CHRDL2 (E167G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545393	NM_001278473.3(CHRDL2):c.770A>G (p.Lys257Arg)	CHRDL2 (K237R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144574	NM_001278473.3(CHRDL2):c.742C>T (p.His248Tyr)	CHRDL2 (H248Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407288	NM_001278473.3(CHRDL2):c.661G>A (p.Ala221Thr)	CHRDL2 (A221T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398791	NM_001278473.3(CHRDL2):c.644C>T (p.Ala215Val)	CHRDL2 (A150V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144573	NM_001278473.3(CHRDL2):c.589C>T (p.Pro197Ser)	CHRDL2 (P177S +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2545837	NM_001278473.3(CHRDL2):c.569C>T (p.Ser190Leu)	CHRDL2 (S125L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267132	NM_001278473.3(CHRDL2):c.517G>A (p.Ala173Thr)	CHRDL2 (A108T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359967	NM_001278473.3(CHRDL2):c.451G>A (p.Gly151Ser)	CHRDL2 (G35S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267129	NM_001278473.3(CHRDL2):c.403C>T (p.Pro135Ser)	CHRDL2 (P135S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267131	NM_001278473.3(CHRDL2):c.277C>A (p.Pro93Thr)	CHRDL2 (P73T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144572	NM_001278473.3(CHRDL2):c.199G>A (p.Ala67Thr)	CHRDL2 (A47T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144571	NM_001278473.3(CHRDL2):c.179G>A (p.Arg60His)	CHRDL2 (R40H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2426953	NC_000011.9:g.(?_71146421)_(75283128_?)dup	ANAPC15, ARAP1 +63 more	Duplication	3-methylglutaconic aciduria, type VIIB	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 1341216	GRCh37/hg19 11q13.4(chr11:74335510-74439153)x1	CHRDL2, POLD3	Copy number loss	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
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: 36