ClinVar for Gene (Select 4605) - ClinVar

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Links from Gene

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3349140	NM_002466.4(MYBL2):c.1765G>A (p.Asp589Asn)	MYBL2 (D565N +1 more)	Single nucleotide variant (missense variant)	MYBL2-related condition	GUncertain significance
Select item 3297187	NM_002466.4(MYBL2):c.1217C>T (p.Pro406Leu)	MYBL2 (P382L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297185	NM_002466.4(MYBL2):c.420G>T (p.Glu140Asp)	MYBL2 (E116D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297184	NM_002466.4(MYBL2):c.392C>G (p.Pro131Arg)	MYBL2 (P131R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248279	NC_000020.10:g.(?_42223339)_(45362473_?)del	ACOT8, ADA +72 more	Deletion	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 3153652	NM_002466.4(MYBL2):c.800C>T (p.Pro267Leu)	MYBL2 (P243L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153649	NM_002466.4(MYBL2):c.787G>A (p.Ala263Thr)	MYBL2 (A263T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153643	NM_002466.4(MYBL2):c.703A>G (p.Ile235Val)	MYBL2 (I235V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153640	NM_002466.4(MYBL2):c.652A>G (p.Thr218Ala)	MYBL2 (T194A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3153634	NM_002466.4(MYBL2):c.445G>T (p.Ala149Ser)	MYBL2 (A125S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153614	NM_002466.4(MYBL2):c.2092A>T (p.Ile698Phe)	MYBL2 (I674F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153602	NM_002466.4(MYBL2):c.1780G>C (p.Asp594His)	MYBL2 (D594H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153590	NM_002466.4(MYBL2):c.1648C>T (p.Arg550Cys)	MYBL2 (R526C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153585	NM_002466.4(MYBL2):c.1621C>A (p.Leu541Met)	MYBL2 (L541M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609552	NM_002466.4(MYBL2):c.1826C>T (p.Pro609Leu)	MYBL2 (P585L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608838	NM_002466.4(MYBL2):c.286G>A (p.Glu96Lys)	MYBL2 (E72K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559183	NM_002466.4(MYBL2):c.428A>C (p.Asp143Ala)	MYBL2 (D119A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552827	NM_002466.4(MYBL2):c.857C>T (p.Thr286Met)	MYBL2 (T286M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2547674	NM_002466.4(MYBL2):c.22G>A (p.Glu8Lys)	MYBL2 (E8K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546141	NM_002466.4(MYBL2):c.1723C>T (p.Arg575Trp)	MYBL2 (R551W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530638	NM_002466.4(MYBL2):c.1306T>C (p.Cys436Arg)	MYBL2 (C412R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523052	NM_002466.4(MYBL2):c.553G>C (p.Asp185His)	MYBL2 (D161H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519407	NM_002466.4(MYBL2):c.1970C>T (p.Ala657Val)	MYBL2 (A657V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474809	NM_002466.4(MYBL2):c.2060G>A (p.Arg687His)	MYBL2 (R687H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472141	NM_002466.4(MYBL2):c.1234C>T (p.Arg412Trp)	MYBL2 (R388W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425559	NC_000020.10:g.(?_42223339)_(44638757_?)del	ACOT8, ADA +60 more	Deletion	Combined immunodeficiency due to STK4 deficiency	GPathogenic
Select item 2406708	NM_002466.4(MYBL2):c.32A>G (p.Asp11Gly)	MYBL2 (D11G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403772	NM_002466.4(MYBL2):c.1030C>G (p.Leu344Val)	MYBL2 (L344V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377044	NM_002466.4(MYBL2):c.950C>T (p.Ser317Leu)	MYBL2 (S317L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347458	NM_002466.4(MYBL2):c.191G>A (p.Arg64His)	MYBL2 (R40H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346603	NM_002466.4(MYBL2):c.1243A>G (p.Lys415Glu)	MYBL2 (K391E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344169	NM_002466.4(MYBL2):c.1154G>A (p.Ser385Asn)	MYBL2 (S385N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314367	NM_002466.4(MYBL2):c.752C>T (p.Ser251Leu)	MYBL2 (S227L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308757	NM_002466.4(MYBL2):c.1855C>A (p.Leu619Ile)	MYBL2 (L595I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296259	NM_002466.4(MYBL2):c.1649G>A (p.Arg550His)	MYBL2 (R550H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261443	NM_002466.4(MYBL2):c.619G>A (p.Glu207Lys)	MYBL2 (E207K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245913	NM_002466.4(MYBL2):c.1937C>G (p.Ala646Gly)	MYBL2 (A646G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217114	NM_002466.4(MYBL2):c.1727G>A (p.Arg576Gln)	MYBL2 (R576Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216784	NM_002466.4(MYBL2):c.1865C>T (p.Ser622Leu)	MYBL2 (S598L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208770	NM_002466.4(MYBL2):c.10C>T (p.Arg4Trp)	LOC121853006, MYBL2 (R4W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 781902	NM_002466.4(MYBL2):c.691G>T (p.Val231Phe)	MYBL2 (V207F +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 778894	NM_002466.4(MYBL2):c.117C>T (p.Asp39=)	MYBL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 777577	NM_002466.4(MYBL2):c.1783G>A (p.Val595Met)	MYBL2 (V571M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 717597	NM_002466.4(MYBL2):c.572G>A (p.Ser191Asn)	MYBL2 (S191N +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 713738	NM_002466.4(MYBL2):c.1022A>G (p.Asn341Ser)	MYBL2 (N317S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 50