BATF2[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3133017	NM_138456.4(BATF2):c.599C>T (p.Thr200Met)	BATF2 (T176M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301363	NM_138456.4(BATF2):c.569C>G (p.Ser190Cys)	BATF2 (S190C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391347	NM_138456.4(BATF2):c.536C>T (p.Ser179Leu)	BATF2 (S155L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133016	NM_138456.4(BATF2):c.533C>A (p.Ala178Asp)	BATF2 (A154D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133015	NM_138456.4(BATF2):c.523C>T (p.Leu175Phe)	BATF2 (L175F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133014	NM_138456.4(BATF2):c.502G>C (p.Val168Leu)	BATF2 (V168L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260468	NM_138456.4(BATF2):c.441C>A (p.Ser147Arg)	BATF2 (S62R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133013	NM_138456.4(BATF2):c.418C>T (p.Pro140Ser)	BATF2 (P55S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509693	NM_138456.4(BATF2):c.413C>T (p.Pro138Leu)	BATF2 (P138L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222753	NM_138456.4(BATF2):c.404C>T (p.Pro135Leu)	BATF2 (P111L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312359	NM_138456.4(BATF2):c.377C>T (p.Thr126Ile)	BATF2 (T41I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394605	NM_138456.4(BATF2):c.343C>T (p.His115Tyr)	BATF2 (H115Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525068	NM_138456.4(BATF2):c.223C>T (p.Arg75Trp)	BATF2 (R51W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399886	NM_138456.4(BATF2):c.164A>T (p.Asp55Val)	BATF2 (D55V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260469	NM_138456.4(BATF2):c.151T>C (p.Ser51Pro)	BATF2 (S51P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260467	NM_138456.4(BATF2):c.91G>A (p.Ala31Thr)	BATF2 (A31T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594524	NM_138456.4(BATF2):c.83G>A (p.Arg28Gln)	BATF2 (R28Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618345	NM_138456.4(BATF2):c.82C>T (p.Arg28Trp)	BATF2 (R28W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590901	NM_138456.4(BATF2):c.23G>A (p.Gly8Glu)	BATF2 (G8E)	Single nucleotide variant (missense variant)	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 2684648	GRCh37/hg19 11q13.1(chr11:64573225-65193732)x3	GPHA2, POLA2 +29 more	Copy number gain	not provided	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 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	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 1449359	NC_000011.9:g.(?_64522783)_(66283694_?)del	AP5B1, ARL2 +81 more	Deletion	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 687992	GRCh37/hg19 11q13.1(chr11:64396501-64883447)x3	ARL2, ATG2A +21 more	Copy number gain	not provided	GUncertain significance
Select item 634998	dup(11)(q13.1q13.1)	ATG2A, BAD +74 more	Duplication	Ependymoma	GLikely pathogenic
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)	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: 31