527[geneid] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 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	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 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	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 154001	GRCh38/hg38 16p13.3(chr16:2304443-2676863)x1	ABCA3, AMDHD2 +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	LOC130058276, LOC130058277 +148 more	Copy number loss	See cases	GPathogenic
Select item 3365687	NM_001694.4(ATP6V0C):c.46G>A (p.Val16Ile)	ATP6V0C (V16I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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)	not provided	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 3233449	NM_001694.4(ATP6V0C):c.283G>A (p.Ala95Thr)	AMDHD2, ATP6V0C (A95T)	Single nucleotide variant (missense variant)	Childhood-onset epilepsy syndrome	GLikely pathogenic
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 3338428	GRCh37/hg19 16p13.3(chr16:2229815-2582030)x4	ABCA3, AMDHD2 +14 more	Copy number gain	Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome	GLikely pathogenic
Select item 3243524	NC_000016.9:g.(?_2550259)_(3154076_?)del	AMDHD2, ATP6V0C +26 more	Deletion	Caused by mutation in the TBC1 domain family, member 24 +2 more	GPathogenic
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	Idiopathic generalized epilepsy +2 more	GUncertain significance
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	TIGD7, TMEM204 +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	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +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)	CLDN6, CLDN9 +196 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 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)	ALG1, BICDL2 +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
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: 74