ATP6V0C[gene] and "single gene"[properties] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2309680	NM_001694.4(ATP6V0C):c.55G>T (p.Ala19Ser)	ATP6V0C (A19S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2575309	NM_001694.4(ATP6V0C):c.64G>A (p.Ala22Thr)	ATP6V0C	Single nucleotide variant (missense variant)	Epilepsy, early-onset, 3, with or without developmental delay	GPathogenic
Select item 1723689	NM_001694.4(ATP6V0C):c.79G>A (p.Ala27Thr)	ATP6V0C (A27T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575302	NM_001694.4(ATP6V0C):c.134_135del (p.Ser45fs)	ATP6V0C (S45fs)	Deletion (frameshift variant)	EPILEPSY, EARLY-ONSET, 3, WITH DEVELOPMENTAL DELAY	GPathogenic
Select item 3340928	NM_001694.4(ATP6V0C):c.158T>G (p.Met53Arg)	ATP6V0C (M53R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 870676	NM_001694.4(ATP6V0C):c.172C>G (p.Pro58Ala)	ATP6V0C (P58A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3329470	NM_001694.4(ATP6V0C):c.187G>A (p.Gly63Ser)	ATP6V0C (G63S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2575304	NM_001694.4(ATP6V0C):c.188G>C (p.Gly63Ala)	ATP6V0C (G63A)	Single nucleotide variant (missense variant)	EPILEPSY, EARLY-ONSET, 3, WITH DEVELOPMENTAL DELAY	GPathogenic
Select item 2302002	NM_001694.4(ATP6V0C):c.253A>T (p.Ser85Cys)	ATP6V0C (S85C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2575311	NM_001694.4(ATP6V0C):c.260_263+11del	ATP6V0C	Deletion (splice donor variant)	Epilepsy, early-onset, 3, with or without developmental delay	GPathogenic
Select item 1800572	NM_001694.4(ATP6V0C):c.274C>T (p.Gln92Ter)	ATP6V0C (Q92*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2575305	NM_001694.4(ATP6V0C):c.283G>C (p.Ala95Pro)	ATP6V0C (A95P)	Single nucleotide variant (missense variant)	EPILEPSY, EARLY-ONSET, 3, WITH DEVELOPMENTAL DELAY	GPathogenic
Select item 2498642	NM_001694.4(ATP6V0C):c.294dup (p.Val99fs)	ATP6V0C (V99fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1800772	NM_001694.4(ATP6V0C):c.295G>A (p.Val99Met)	ATP6V0C (V99M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575310	NM_001694.4(ATP6V0C):c.361_373del (p.Thr121fs)	ATP6V0C (T121fs)	Deletion (frameshift variant)	Epilepsy, early-onset, 3, with or without developmental delay	GPathogenic
Select item 2671958	NM_001694.4(ATP6V0C):c.377G>C (p.Arg126Pro)	ATP6V0C (R126P)	Single nucleotide variant (missense variant)	Epilepsy, early-onset, 3, with or without developmental delay	GUncertain significance
Select item 3253294	NM_001694.4(ATP6V0C):c.395T>A (p.Ile132Asn)	ATP6V0C (I132N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1710383	NM_001694.4(ATP6V0C):c.404T>C (p.Leu135Pro)	ATP6V0C (L135P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2575306	NM_001694.4(ATP6V0C):c.409T>C (p.Phe137Leu)	ATP6V0C	Single nucleotide variant (missense variant)	EPILEPSY, EARLY-ONSET, 3, WITH DEVELOPMENTAL DELAY	GPathogenic
Select item 1004311	NM_001694.4(ATP6V0C):c.412G>C (p.Ala138Pro)	ATP6V0C (A138P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500798	NM_001694.4(ATP6V0C):c.424G>T (p.Gly142Cys)	ATP6V0C (G142C)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 3252882	NM_001694.4(ATP6V0C):c.425G>A (p.Gly142Asp)	ATP6V0C (G142D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1722927	NM_001694.4(ATP6V0C):c.445G>A (p.Ala149Thr)	ATP6V0C (A149T)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2575308	NM_001694.4(ATP6V0C):c.448C>T (p.Leu150Phe)	ATP6V0C	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 816939	NM_001694.4(ATP6V0C):c.467A>T (p.Ter156Leu)	ATP6V0C	Single nucleotide variant (stop lost)	Seizure	GPathogenic
Select item 3360414	NM_001694.4(ATP6V0C):c.350G>A (p.Gly117Asp)	ATP6V0C (G117D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358938	NM_001694.4(ATP6V0C):c.376C>T (p.Arg126Ter)	ATP6V0C (R126*)	Single nucleotide variant (nonsense)	Epilepsy, early-onset, 3, with or without developmental delay	GLikely pathogenic

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Items: 27