ClinVar for MedGen (Select 1627627) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2503503	NM_001199198.3(TBC1D23):c.458T>C (p.Met153Thr)	TBC1D23 (M153T)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia, type 11	GUncertain significance
Select item 2503049	NM_001199198.3(TBC1D23):c.1018del (p.Val340fs)	TBC1D23 (V340fs)	Deletion (frameshift variant)	Pontocerebellar hypoplasia, type 11	GPathogenic
Select item 2436959	NM_001199198.3(TBC1D23):c.1505G>A (p.Arg502Lys)	TBC1D23 (R502K)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia, type 11	GUncertain significance
Select item 2436958	NM_001199198.3(TBC1D23):c.53+100G>A	TBC1D23	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia, type 11	GUncertain significance
Select item 1334928	NM_001199198.3(TBC1D23):c.1554-49dup	TBC1D23	Duplication (intron variant)	Pontocerebellar hypoplasia, type 11	GBenign
Select item 1325171	NM_001199198.3(TBC1D23):c.614_615del (p.Phe205fs)	TBC1D23 (F205fs)	Deletion (frameshift variant)	Pontocerebellar hypoplasia, type 11	GLikely pathogenic
Select item 1323676	NM_001199198.3(TBC1D23):c.1092+2T>A	TBC1D23	Single nucleotide variant (splice donor variant)	Pontocerebellar hypoplasia, type 11	GPathogenic
Select item 1323675	NM_001199198.3(TBC1D23):c.630del (p.Thr211fs)	TBC1D23 (T211fs)	Deletion (frameshift variant)	Pontocerebellar hypoplasia, type 11	GLikely pathogenic
Select item 1251837	NM_001199198.3(TBC1D23):c.876+27G>T	TBC1D23	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia, type 11 +1 more	GBenign
Select item 1065496	NM_001199198.3(TBC1D23):c.1004G>T (p.Gly335Val)	TBC1D23 (G335V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1031926	NM_001199198.3(TBC1D23):c.538C>T (p.Pro180Ser)	TBC1D23 (P180S)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia, type 11	GUncertain significance
Select item 1031925	NM_001199198.3(TBC1D23):c.1883G>T (p.Gly628Val)	TBC1D23 (G613V +1 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia, type 11	GUncertain significance
Select item 1029244	NM_001199198.3(TBC1D23):c.170C>T (p.Ala57Val)	TBC1D23 (A57V)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia, type 11	GUncertain significance
Select item 1029243	NM_001199198.3(TBC1D23):c.1327G>A (p.Asp443Asn)	TBC1D23 (D443N)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia, type 11	GUncertain significance
Select item 930943	NM_001199198.3(TBC1D23):c.1687+1G>C	TBC1D23	Single nucleotide variant (splice donor variant)	Pontocerebellar hypoplasia, type 11	GPathogenic
Select item 801991	NM_001199198.3(TBC1D23):c.92G>C (p.Cys31Ser)	TBC1D23 (C31S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 440764	NM_001199198.3(TBC1D23):c.1687+1G>A	TBC1D23	Single nucleotide variant (splice donor variant)	Pontocerebellar hypoplasia, type 11	GPathogenic
Select item 440763	NM_001199198.3(TBC1D23):c.1687+2T>A	TBC1D23	Single nucleotide variant (splice donor variant)	Pontocerebellar hypoplasia, type 11	GLikely pathogenic
Select item 397555	NM_001199198.3(TBC1D23):c.1687+2T>G	TBC1D23	Single nucleotide variant (splice donor variant)	Pontoneocerebellar hypoplasia +1 more	GPathogenic
Select item 397554	NM_001199198.3(TBC1D23):c.1526delinsAA (p.Ile509fs)	TBC1D23 (I509fs)	Indel (frameshift variant)	Pontoneocerebellar hypoplasia +1 more	GPathogenic
Select item 397553	NM_001199198.3(TBC1D23):c.1475_1476del (p.Val492fs)	TBC1D23 (V492fs)	Microsatellite (frameshift variant)	Pontoneocerebellar hypoplasia +1 more	GPathogenic

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Items: 21