"GeneDx"[submitter] AND "AGTR2"[gene] - ClinVar

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Items: 27

	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 58661	GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3	LOC126863293, LOC126863294 +478 more	Copy number gain	See cases	GPathogenic
Select item 423148	NM_000686.5(AGTR2):c.61G>A (p.Gly21Arg)	AGTR2 (G21R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 389981	NM_000686.5(AGTR2):c.298T>C (p.Trp100Arg)	AGTR2 (W100R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 11717	NM_000686.5(AGTR2):c.402del (p.Phe134fs)	AGTR2 (F134fs)	Deletion (frameshift variant)	not provided +1 more	GLikely benign
Select item 451248	NM_000686.5(AGTR2):c.443A>G (p.Tyr148Cys)	AGTR2 (Y148C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 385148	NM_000686.5(AGTR2):c.559A>G (p.Ile187Val)	AGTR2 (I187V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 377454	NM_000686.5(AGTR2):c.722C>T (p.Thr241Met)	AGTR2 (T241M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 450737	NM_000686.5(AGTR2):c.817C>A (p.His273Asn)	AGTR2 (H273N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 451412	NM_000686.5(AGTR2):c.871G>A (p.Glu291Lys)	AGTR2 (E291K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 393081	NM_000686.5(AGTR2):c.930C>A (p.Asn310Lys)	AGTR2 (N310K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 382444	NM_000686.5(AGTR2):c.1012A>G (p.Thr338Ala)	AGTR2 (T338A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	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: 27