Related gene-specific medical variations for Gene (Select 27107) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3191892	NM_014415.4(ZBTB11):c.253A>G (p.Thr85Ala)	ZBTB11, ZBTB11-AS1 (T85A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3191889	NM_014415.4(ZBTB11):c.220C>A (p.Leu74Ile)	ZBTB11, ZBTB11-AS1 (L74I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3191887	NM_014415.4(ZBTB11):c.167G>A (p.Arg56His)	ZBTB11, ZBTB11-AS1 (R56H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3191882	NM_014415.4(ZBTB11):c.11A>G (p.Glu4Gly)	ZBTB11, ZBTB11-AS1 (E4G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3065506	NM_014415.4(ZBTB11):c.1342A>G (p.Ser448Gly)	ZBTB11 (S448G)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 69	GUncertain significance
Select item 3055253	NM_014415.4(ZBTB11):c.219C>T (p.Asp73=)	ZBTB11, ZBTB11-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	ZBTB11-related disorder	GLikely benign
Select item 2506345	NM_014415.4(ZBTB11):c.85_97del (p.Val29fs)	ZBTB11, ZBTB11-AS1 (V29fs)	Deletion (non-coding transcript variant +1 more)	Intellectual developmental disorder, autosomal recessive 69	GPathogenic
Select item 2438637	NM_014415.4(ZBTB11):c.1999C>T (p.Arg667Ter)	ZBTB11 (R667*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder, autosomal recessive 69	GUncertain significance
Select item 2384076	NM_014415.4(ZBTB11):c.118T>C (p.Tyr40His)	ZBTB11, ZBTB11-AS1 (Y40H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2334443	NM_014415.4(ZBTB11):c.282C>A (p.His94Gln)	ZBTB11, ZBTB11-AS1 (H94Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2303761	NM_014415.4(ZBTB11):c.17G>A (p.Ser6Asn)	ZBTB11, ZBTB11-AS1 (S6N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2279731	NM_014415.4(ZBTB11):c.35G>C (p.Arg12Pro)	ZBTB11, ZBTB11-AS1 (R12P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2264704	NM_014415.4(ZBTB11):c.166C>T (p.Arg56Cys)	ZBTB11, ZBTB11-AS1 (R56C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2224174	NM_014415.4(ZBTB11):c.280C>T (p.His94Tyr)	ZBTB11, ZBTB11-AS1 (H94Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1703745	NM_014415.4(ZBTB11):c.154C>T (p.Arg52Trp)	ZBTB11, ZBTB11-AS1 (R52W)	Single nucleotide variant (non-coding transcript variant +1 more)	Intellectual developmental disorder, autosomal recessive 69	GPathogenic
Select item 1700846	NM_014415.4(ZBTB11):c.271C>T (p.Gln91Ter)	ZBTB11, ZBTB11-AS1 (Q91*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1700837	NM_014415.4(ZBTB11):c.13G>A (p.Glu5Lys)	ZBTB11, ZBTB11-AS1 (E5K)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance