ATP6V0C[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	LOC112340388, LOC112441449 +821 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	OR1F1, OR2C1 +916 more	Copy number gain	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC130058195, LOC130058196 +556 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	RMI2, RNF151 +842 more	Copy number gain	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	LOC130058340, LOC130058341 +925 more	Copy number gain	See cases	GPathogenic
Select item 154001	GRCh38/hg38 16p13.3(chr16:2304443-2676863)x1	LOC130058242, LOC130058243 +49 more	Copy number loss	See cases	GUncertain significance
Select item 154402	GRCh38/hg38 16p13.3(chr16:2365461-2764284)x1	AMDHD2, ATP6V0C +58 more	Copy number loss	See cases	GUncertain significance
Select item 150039	GRCh38/hg38 16p13.3(chr16:2365461-2532960)x1	AMDHD2, ATP6V0C +36 more	Copy number loss	See cases	GUncertain significance
Select item 152712	GRCh38/hg38 16p13.3(chr16:2406643-2782411)x1	AMDHD2, ATP6V0C +59 more	Copy number loss	See cases	GLikely pathogenic
Select item 59427	GRCh38/hg38 16p13.3(chr16:2494804-3246579)x1	AMDHD2, ATP6V0C +148 more	Copy number loss	See cases	GPathogenic
Select item 2309680	NM_001694.4(ATP6V0C):c.55G>T (p.Ala19Ser)	ATP6V0C (A19S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 870676	NM_001694.4(ATP6V0C):c.172C>G (p.Pro58Ala)	ATP6V0C (P58A)	Single nucleotide variant (missense variant)	not provided	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)	Inborn genetic diseases	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 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 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)	EPILEPSY, EARLY-ONSET, 3, WITH DEVELOPMENTAL DELAY	GPathogenic
Select item 816939	NM_001694.4(ATP6V0C):c.467A>T (p.Ter156Leu)	ATP6V0C	Single nucleotide variant (stop lost)	Seizure	GPathogenic
Select item 2685540	GRCh37/hg19 16p13.3(chr16:2480793-2590012)x1	AMDHD2, ATP6V0C +6 more	Copy number loss	not provided	GLikely pathogenic
Select item 2684772	GRCh37/hg19 16p13.3(chr16:1054247-2592737)x3	ABCA3, AMDHD2 +66 more	Copy number gain	not provided	GLikely pathogenic
Select item 2498683	GRCh37/hg19 16p13.3(chr16:2564105-2647768)x1	AMDHD2, ATP6V0C +2 more	Copy number loss	not provided	GUncertain significance
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	PRSS21, PRSS22 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 1808520	GRCh37/hg19 16p13.3(chr16:1942430-2653144)x3	ABCA3, AMDHD2 +35 more	Copy number gain	not provided	GUncertain significance
Select item 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 1526483	GRCh37/hg19 16p13.3(chr16:1847662-2653144)	ABCA3, AMDHD2 +38 more	Copy number gain	not specified	GUncertain significance
Select item 1340286	GRCh37/hg19 16p13.3(chr16:1830141-2592737)x3	ABCA3, AMDHD2 +41 more	Copy number gain	not provided	GUncertain significance
Select item 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic
Select item 980573	GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	ABCA3, ADCY9 +188 more	Copy number gain	not provided	GPathogenic
Select item 688711	GRCh37/hg19 16p13.3(chr16:2527176-2581549)x1	AMDHD2, ATP6V0C +2 more	Copy number loss	not provided	GUncertain significance
Select item 685170	GRCh37/hg19 16p13.3(chr16:2070917-2592737)x3	ABCA3, AMDHD2 +22 more	Copy number gain	not provided	GUncertain significance
Select item 625723	GRCh37/hg19 16p13.3(chr16:109978-4316797)	ABCA3, ADCY9 +159 more	Copy number gain	Chromosome 16p13.3 duplication syndrome	GPathogenic
Select item 564256	GRCh37/hg19 16p13.3(chr16:1505184-4415346)x3	ABCA3, ADCY9 +103 more	Copy number gain	not provided	GPathogenic
Select item 564254	GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3	ABAT, ABCA3 +206 more	Copy number gain	not provided	GPathogenic
Select item 564253	GRCh37/hg19 16p13.3(chr16:85880-3216551)x3	ABCA3, AMDHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 443477	GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3	ABAT, ABCA3 +198 more	Copy number gain	See cases	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	JPT2, KARS1 +810 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	ADAD2, ADAMTS18 +810 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	ABAT, ABCA3 +263 more	Copy number gain	See cases	GPathogenic
Select item 441740	GRCh37/hg19 16p13.3(chr16:643377-3125125)x3	ABCA3, AMDHD2 +111 more	Copy number gain	See cases	GUncertain significance
Select item 395719	GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448)	ABAT, ABCA3 +196 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	KCTD13, KCTD19 +810 more	Copy number gain	See cases	GPathogenic
Select item 394840	GRCh37/hg19 16p13.3(chr16:97133-5122974)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ITGAM, NPIPA3 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 253688	GRCh37/hg19 16p13.3(chr16:2188712-2580690)x4	CEMP1, E4F1 +16 more	Copy number gain	See cases	GUncertain significance
Select item 221511	GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3	AMDHD2, ANKS3 +202 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic

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Items: 63