23014[HGNC] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150457	GRCh38/hg38 11q12.2(chr11:61181337-61516830)x3	CPSF7, CYB561A3 +23 more	Copy number gain	See cases	GUncertain significance
Select item 2243637	NM_153611.6(CYB561A3):c.682C>G (p.Pro228Ala)	CYB561A3, TKFC (P245A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483377	NM_153611.6(CYB561A3):c.673C>T (p.Arg225Cys)	CYB561A3, TKFC (R225C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458218	NM_153611.6(CYB561A3):c.445C>T (p.Arg149Cys)	CYB561A3, TKFC (R149C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411934	NM_153611.6(CYB561A3):c.385G>A (p.Ala129Thr)	CYB561A3 (A129T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227043	NM_153611.6(CYB561A3):c.334A>G (p.Asn112Asp)	CYB561A3 (N129D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207370	NM_153611.6(CYB561A3):c.319C>T (p.His107Tyr)	CYB561A3 (H107Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260083	NM_153611.6(CYB561A3):c.212C>T (p.Ser71Leu)	CYB561A3 (S71L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079249	NM_153611.6(CYB561A3):c.182G>A (p.Gly61Asp)	CYB561A3 (G61D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270435	NM_153611.6(CYB561A3):c.44C>T (p.Ser15Phe)	CYB561A3 (S15F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352970	NM_153611.6(CYB561A3):c.13C>T (p.Arg5Trp)	CYB561A3 (R5W +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3079250	NM_153611.6(CYB561A3):c.-9G>A	CYB561A3 (V15M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2358413	NM_153611.6(CYB561A3):c.-12T>C	CYB561A3 (C14R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2331117	NM_153611.6(CYB561A3):c.-15-491A>G	CYB561A3 (D7G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 305046	NM_016464.4(TMEM138):c.-520_-518delTCC	CYB561A3, TMEM138	Deletion (5 prime UTR variant)	Familial aplasia of the vermis	GUncertain significance
Select item 305047	NM_016464.4(TMEM138):c.-518C>T	CYB561A3, TMEM138	Single nucleotide variant (5 prime UTR variant)	Familial aplasia of the vermis	GUncertain significance
Select item 305048	NM_016464.4(TMEM138):c.-479A>C	CYB561A3, TMEM138	Single nucleotide variant (5 prime UTR variant)	Familial aplasia of the vermis	GUncertain significance
Select item 305049	NM_016464.4(TMEM138):c.-350A>C	CYB561A3, TMEM138	Single nucleotide variant (5 prime UTR variant)	Familial aplasia of the vermis	GUncertain significance
Select item 305050	NM_016464.4(TMEM138):c.-308A>G	CYB561A3, TMEM138	Single nucleotide variant (5 prime UTR variant)	Familial aplasia of the vermis	GLikely benign
Select item 305051	NM_016464.4(TMEM138):c.-304C>A	CYB561A3, TMEM138	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 305052	NM_016464.4(TMEM138):c.-294G>A	CYB561A3, TMEM138	Single nucleotide variant (5 prime UTR variant)	Familial aplasia of the vermis	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 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
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 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815435	GRCh37/hg19 11q12.2-12.3(chr11:60385382-62456278)x3	CD5, CD6 +58 more	Copy number gain	not provided	GUncertain significance
Select item 687991	GRCh37/hg19 11q12.2(chr11:60499486-61529578)x3	CCDC86, CD5 +27 more	Copy number gain	not provided	GUncertain significance
Select item 563873	GRCh37/hg19 11q12.1-12.3(chr11:58935215-62177656)x3	ASRGL1, BEST1 +72 more	Copy number gain	not provided	GLikely pathogenic
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: 33