23837[HGNC] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 148826	GRCh38/hg38 12q23.1-23.2(chr12:97394550-101410225)x3	ACTR6, ANKS1B +91 more	Copy number gain	See cases	GLikely pathogenic
Select item 3127094	NM_001286615.2(ANO4):c.226G>A (p.Asp76Asn)	ANO4 (D41N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334080	NM_001286615.2(ANO4):c.253A>C (p.Thr85Pro)	ANO4 (T50P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339294	NM_001286615.2(ANO4):c.320C>T (p.Ser107Leu)	ANO4 (S72L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127098	NM_001286615.2(ANO4):c.383C>A (p.Ser128Tyr)	ANO4 (S93Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067135	NM_001286615.2(ANO4):c.387C>G (p.Asn129Lys)	ANO4 (N129K +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 2364324	NM_001286615.2(ANO4):c.478A>G (p.Ile160Val)	ANO4 (I125V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127099	NM_001286615.2(ANO4):c.775A>T (p.Thr259Ser)	ANO4 (T259S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463772	NM_001286615.2(ANO4):c.862A>G (p.Asn288Asp)	ANO4 (N253D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127100	NM_001286615.2(ANO4):c.977C>G (p.Ser326Cys)	ANO4 (S291C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778657	NM_001286615.2(ANO4):c.1126G>A (p.Val376Ile)	ANO4 (V376I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2531825	NM_001286615.2(ANO4):c.1158A>T (p.Lys386Asn)	ANO4 (K386N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597547	NM_001286615.2(ANO4):c.1402A>T (p.Ile468Leu)	ANO4 (I433L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465342	NM_001286615.2(ANO4):c.1441C>T (p.Arg481Trp)	ANO4 (R446W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309742	NM_001286615.2(ANO4):c.1496G>A (p.Cys499Tyr)	ANO4 (C464Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487197	NM_001286615.2(ANO4):c.1510G>A (p.Val504Ile)	ANO4 (V469I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329619	NM_001286615.2(ANO4):c.1529T>G (p.Phe510Cys)	ANO4 (F510C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127095	NM_001286615.2(ANO4):c.1580G>A (p.Arg527Gln)	ANO4 (R527Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067136	NM_001286615.2(ANO4):c.1582G>A (p.Val528Met)	ANO4 (V493M +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus	GPathogenic
Select item 3067132	NM_001286615.2(ANO4):c.1674C>A (p.Asn558Lys)	ANO4 (N523K +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 3067133	NM_001286615.2(ANO4):c.1684A>T (p.Ile562Phe)	ANO4 (I527F +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 3067131	NM_001286615.2(ANO4):c.1688T>A (p.Met563Lys)	ANO4 (M528K +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 2243372	NM_001286615.2(ANO4):c.1705T>C (p.Tyr569His)	ANO4 (Y534H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067134	NM_001286615.2(ANO4):c.1807A>G (p.Asn603Asp)	ANO4 (N568D +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 2216227	NM_001286615.2(ANO4):c.2059G>A (p.Glu687Lys)	ANO4 (E652K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464847	NM_001286615.2(ANO4):c.2089A>G (p.Lys697Glu)	ANO4 (K662E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288018	NM_001286615.2(ANO4):c.2100C>A (p.Asn700Lys)	ANO4 (N700K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319446	NM_001286615.2(ANO4):c.2102T>C (p.Leu701Pro)	ANO4 (L666P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204790	NM_001286615.2(ANO4):c.2108C>T (p.Pro703Leu)	ANO4 (P703L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557574	NM_001286615.2(ANO4):c.2148G>A (p.Met716Ile)	ANO4 (M681I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068501	NM_001286615.2(ANO4):c.2174T>C (p.Ile725Thr)	ANO4 (I690T +1 more)	Single nucleotide variant (missense variant)	Temporal lobe epilepsy	GLikely pathogenic
Select item 3127096	NM_001286615.2(ANO4):c.2369C>T (p.Ala790Val)	ANO4 (A755V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127097	NM_001286615.2(ANO4):c.2576G>A (p.Arg859Gln)	ANO4 (R824Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221568	NM_001286615.2(ANO4):c.2591C>T (p.Pro864Leu)	ANO4 (P864L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715963	NM_001286615.2(ANO4):c.2592G>A (p.Pro864=)	ANO4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2532916	NM_001286615.2(ANO4):c.2742G>T (p.Arg914Ser)	ANO4 (R914S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808272	GRCh37/hg19 12q23.1-23.2(chr12:101272963-101745632)x3	ANO4, SLC5A8 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1527728	GRCh37/hg19 12q23.1-23.3(chr12:100580198-105804075)	ACTR6, ALDH1L2 +39 more	Copy number gain	not specified	GUncertain significance
Select item 1527727	GRCh37/hg19 12q23.1-23.2(chr12:100564593-103021075)	ACTR6, ANO4 +19 more	Copy number loss	not specified	GUncertain significance
Select item 815548	GRCh37/hg19 12q23.1-23.2(chr12:101273182-101745632)x3	SLC5A8, UTP20 +1 more	Copy number gain	not provided	GUncertain significance
Select item 686626	GRCh37/hg19 12q23.1-23.2(chr12:101447925-102593349)x3	ANO4, ARL1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 563984	GRCh37/hg19 12q23.1(chr12:96719383-101537641)x3	ACTR6, ANKS1B +16 more	Copy number gain	not provided	GLikely pathogenic
Select item 443406	GRCh37/hg19 12q23.1-23.2(chr12:100667424-101651880)x3	ANO4, GAS2L3 +4 more	Copy number gain	See cases	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

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Items: 48