ClinVar for Gene (Select 9986) - ClinVar

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Links from Gene

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3152711	NM_005133.3(RCE1):c.865G>T (p.Ala289Ser)	RCE1 (A185S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152710	NM_005133.3(RCE1):c.596C>T (p.Thr199Ile)	RCE1 (T95I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152708	NM_005133.3(RCE1):c.19G>A (p.Asp7Asn)	RCE1, TOP6BL (D7N)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3152707	NM_005133.3(RCE1):c.175G>A (p.Glu59Lys)	RCE1 (E59K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3152706	NM_005133.3(RCE1):c.13G>A (p.Gly5Ser)	RCE1, TOP6BL (G5S)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
Select item 2590714	NM_005133.3(RCE1):c.248C>T (p.Pro83Leu)	RCE1 (P83L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2540607	NM_005133.3(RCE1):c.16G>A (p.Gly6Arg)	RCE1, TOP6BL (G6R)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2513873	NM_005133.3(RCE1):c.115G>C (p.Val39Leu)	RCE1 (V39L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2482435	NM_005133.3(RCE1):c.667G>T (p.Val223Leu)	RCE1 (V223L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 2412059	NM_005133.3(RCE1):c.956G>A (p.Arg319Gln)	RCE1 (R215Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378671	NM_005133.3(RCE1):c.44C>T (p.Ser15Leu)	RCE1, TOP6BL (S15L)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2323507	NM_005133.3(RCE1):c.667G>C (p.Val223Leu)	RCE1 (V223L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307688	NM_005133.3(RCE1):c.64G>C (p.Glu22Gln)	RCE1 (E22Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2298729	NM_005133.3(RCE1):c.739C>T (p.Leu247Phe)	RCE1 (L143F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263461	NM_005133.3(RCE1):c.299C>G (p.Ser100Cys)	RCE1 (S100C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2256602	NM_005133.3(RCE1):c.241C>T (p.Leu81Phe)	RCE1 (L81F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2244911	NM_005133.3(RCE1):c.583C>T (p.Pro195Ser)	RCE1 (P195S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229562	NM_005133.3(RCE1):c.256G>A (p.Val86Met)	RCE1 (V86M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2209412	NM_005133.3(RCE1):c.428C>T (p.Ala143Val)	RCE1 (A143V +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 625593	GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402)	ACTN3, ACY3 +94 more	Copy number gain	not provided	GPathogenic
Select item 443398	GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3	ACTN3, ANKRD13D +104 more	Copy number gain	See cases	GLikely pathogenic
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
Select item 253811	GRCh37/hg19 11q13.2(chr11:66024774-67430781)x3	GRK2, LRFN4 +57 more	Copy number gain	See cases	GUncertain significance
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	LOC130006222, LOC130006223 +282 more	Copy number loss	See cases	GPathogenic
Select item 59757	GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3	LOC130006168, LOC130006169 +212 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 31