ClinVar for MedGen (Select 1676539) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370366	ZBTB11, 2-BP DEL, NT2977	ZBTB11	Deletion	Intellectual developmental disorder, autosomal recessive 69	GPathogenic
Select item 3370365	NM_014415.4(ZBTB11):c.2708G>A (p.Arg903His)	ZBTB11 (R903H)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 69	GPathogenic
Select item 3339890	NM_014415.4(ZBTB11):c.1508dup (p.Tyr503Ter)	ZBTB11 (Y503*)	Duplication (nonsense)	Intellectual developmental disorder, autosomal recessive 69	GPathogenic
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 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 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 1703744	NM_014415.4(ZBTB11):c.2779C>T (p.Arg927Ter)	ZBTB11 (R927*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder, autosomal recessive 69	GPathogenic
Select item 1703743	NM_014415.4(ZBTB11):c.907A>T (p.Ile303Phe)	ZBTB11 (I303F)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 69	GPathogenic
Select item 1703742	NM_014415.4(ZBTB11):c.2734C>T (p.Arg912Trp)	ZBTB11	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 69	GPathogenic
Select item 1703741	NM_014415.4(ZBTB11):c.2668A>G (p.Thr890Ala)	ZBTB11 (T890A)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 69	GPathogenic
Select item 1684248	NM_014415.4(ZBTB11):c.1624-4C>T	ZBTB11	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1027864	NM_014415.4(ZBTB11):c.799C>T (p.Leu267Phe)	ZBTB11 (L267F)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 69	GUncertain significance
Select item 1027863	NM_014415.4(ZBTB11):c.709G>A (p.Glu237Lys)	ZBTB11 (E237K)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 69	GUncertain significance
Select item 1027862	NM_014415.4(ZBTB11):c.1342A>C (p.Ser448Arg)	ZBTB11 (S448R)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 69	GUncertain significance
Select item 625186	NM_014415.4(ZBTB11):c.2640T>G (p.His880Gln)	ZBTB11 (H880Q)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 69	GPathogenic
Select item 625185	NM_014415.4(ZBTB11):c.2185C>T (p.His729Tyr)	ZBTB11 (H729Y)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 69	GPathogenic