"GeneDx"[submitter] AND "ATP2B3"[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145168	GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	LOC125467786, LOC125467787 +1203 more	Copy number loss	See cases	GPathogenic
Select item 58668	GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3	MIR2114, MIR224 +718 more	Copy number gain	See cases	GPathogenic
Select item 58708	GRCh38/hg38 Xq28(chrX:153395425-155687381)x2	BCAP31, BGN +200 more	Copy number gain	See cases	GPathogenic
Select item 58709	GRCh38/hg38 Xq28(chrX:153504314-154144797)x2	ABCD1, ARHGAP4 +67 more	Copy number gain	See cases	GPathogenic
Select item 387115	NM_001001344.3(ATP2B3):c.193A>G (p.Thr65Ala)	ATP2B3 (T65A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 152791	GRCh38/hg38 Xq28(chrX:153539888-153560274)x1	ATP2B3	Copy number loss	See cases	GUncertain significance
Select item 512119	NM_001001344.3(ATP2B3):c.209-10C>T	ATP2B3	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 430435	NM_001001344.3(ATP2B3):c.244A>G (p.Arg82Gly)	ATP2B3 (R82G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 387901	NM_001001344.3(ATP2B3):c.1198C>G (p.Arg400Gly)	ATP2B3 (R400G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 452483	NM_001001344.3(ATP2B3):c.1264G>C (p.Val422Leu)	ATP2B3 (V422L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 518409	NM_001001344.3(ATP2B3):c.1473A>G (p.Gly491=)	ATP2B3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 382495	NM_001001344.3(ATP2B3):c.2029G>A (p.Val677Met)	ATP2B3 (V677M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 452872	NM_001001344.3(ATP2B3):c.2269C>T (p.Pro757Ser)	ATP2B3 (P757S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 383390	NM_001001344.3(ATP2B3):c.2315C>T (p.Thr772Ile)	ATP2B3 (T772I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 518410	NM_001001344.3(ATP2B3):c.2326+11C>T	ATP2B3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 429226	NM_001001344.3(ATP2B3):c.2412G>C (p.Lys804Asn)	ATP2B3 (K804N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 385191	NM_001001344.3(ATP2B3):c.2414C>T (p.Ala805Val)	ATP2B3 (A805V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 392791	NM_001001344.3(ATP2B3):c.2440G>A (p.Ala814Thr)	ATP2B3 (A814T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 518412	NM_001001344.3(ATP2B3):c.2839+14G>T	ATP2B3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 451201	NM_001001344.3(ATP2B3):c.3160-2A>G	ATP2B3	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 39839	NM_001001344.3(ATP2B3):c.3320G>A (p.Gly1107Asp)	ATP2B3 (G1107D)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 386815	NM_001001344.3(ATP2B3):c.3342+4563T>C	ATP2B3 (S1136P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 386820	NM_001001344.3(ATP2B3):c.3468C>G (p.Ile1156Met)	ATP2B3 (I1156M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 390185	NM_001001344.3(ATP2B3):c.3533C>A (p.Ser1178Tyr)	ATP2B3 (S1178Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253616	GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253588	GRCh37/hg19 Xq27.3-28(chrX:142174780-155250222)x2	ABCD1, AFF2 +130 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253579	GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1	CETN2, CLIC2 +222 more	Copy number loss	See cases	GPathogenic
Select item 253572	GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic

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Items: 41