"GeneDx"[submitter] AND "SLC9A7"[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59265	GRCh38/hg38 Xp11.4-11.23(chrX:41434043-47880733)x1	ARAF, CASK +152 more	Copy number loss	See cases	GPathogenic
Select item 60303	GRCh38/hg38 Xp11.3(chrX:46156693-46636156)x3	CHST7, KRBOX4 +10 more	Copy number gain	See cases	GUncertain significance
Select item 2136020	NM_001257291.2(SLC9A7):c.1985T>C (p.Leu662Pro)	SLC9A7 (L661P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367577	NM_001257291.2(SLC9A7):c.1902_1904delinsTACA (p.Cys635fs)	SLC9A7 (C634fs +1 more)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 1315423	NM_001257291.2(SLC9A7):c.1898C>T (p.Ala633Val)	SLC9A7 (A632V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505691	NM_001257291.2(SLC9A7):c.1853G>T (p.Gly618Val)	SLC9A7 (G617V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 60308	GRCh38/hg38 Xp11.3(chrX:46617620-46973582)x3	JADE3, LINC01545 +18 more	Copy number gain	See cases	GUncertain significance
Select item 3378353	NM_001257291.2(SLC9A7):c.1772C>T (p.Thr591Ile)	SLC9A7 (T590I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806568	NM_001257291.2(SLC9A7):c.1717G>A (p.Asp573Asn)	SLC9A7 (D572N +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2574230	NM_001257291.2(SLC9A7):c.1702C>T (p.Pro568Ser)	SLC9A7 (P567S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370552	NM_001257291.2(SLC9A7):c.1682G>T (p.Gly561Val)	SLC9A7 (G560V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 548948	NM_001257291.2(SLC9A7):c.1543C>T (p.Leu515Phe)	SLC9A7 (L514F +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked 108 +1 more	GLikely pathogenic
Select item 2503360	NM_001257291.2(SLC9A7):c.1283A>G (p.Tyr428Cys)	SLC9A7 (Y427C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502624	NM_001257291.2(SLC9A7):c.1252C>T (p.His418Tyr)	SLC9A7 (H417Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309822	NM_001257291.2(SLC9A7):c.1214A>C (p.Glu405Ala)	SLC9A7 (E404A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343903	NM_001257291.2(SLC9A7):c.1199A>G (p.Asn400Ser)	SLC9A7 (N399S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308539	NM_001257291.2(SLC9A7):c.1186C>T (p.His396Tyr)	SLC9A7 (H395Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580018	NM_001257291.2(SLC9A7):c.900G>A (p.Ser300=)	SLC9A7	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1308397	NM_001257291.2(SLC9A7):c.825T>G (p.His275Gln)	SLC9A7 (H275Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371805	NM_001257291.2(SLC9A7):c.815A>G (p.Asn272Ser)	SLC9A7 (N272S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574484	NM_001257291.2(SLC9A7):c.700G>A (p.Val234Met)	SLC9A7 (V234M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1722854	NM_001257291.2(SLC9A7):c.456A>T (p.Glu152Asp)	SLC9A7 (E152D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312777	NM_001257291.2(SLC9A7):c.409A>G (p.Arg137Gly)	SLC9A7 (R137G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1723113	NM_001257291.2(SLC9A7):c.370A>C (p.Ser124Arg)	SLC9A7 (S124R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308292	NM_001257291.2(SLC9A7):c.298C>T (p.His100Tyr)	SLC9A7 (H100Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499177	NM_001257291.2(SLC9A7):c.256C>T (p.Leu86Phe)	SLC9A7 (L86F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580737	NM_001257291.2(SLC9A7):c.158C>T (p.Ala53Val)	SLC9A7 (A53V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442705	NM_001257291.2(SLC9A7):c.77_82dup (p.Leu27_Leu28insProLeu)	LOC130068197, SLC9A7	Duplication (inframe_insertion)	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 253615	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3	ACE2, ACOT9 +316 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 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253571	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1	ACE2, ACOT9 +316 more	Copy number loss	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 253436	GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3	ABCB7, AKAP4 +250 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
Select item 3360987	NM_001257291.2(SLC9A7):c.1589C>T (p.Thr530Ile)	SLC9A7 (T529I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359686	NM_001257291.2(SLC9A7):c.1949A>C (p.Glu650Ala)	SLC9A7 (E649A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 46