ClinVar for Gene (Select 439921) - ClinVar

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Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3297136	NM_198530.4(MXRA7):c.113C>T (p.Ala38Val)	MXRA7 (A38V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297135	NM_198530.4(MXRA7):c.79G>A (p.Val27Met)	MXRA7 (V27M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297132	NM_001008528.3(MXRA7):c.534G>T (p.Lys178Asn)	MXRA7 (K221N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152741	NM_198530.4(MXRA7):c.402G>C (p.Glu134Asp)	MXRA7 (E103D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3152734	NM_198530.4(MXRA7):c.319G>A (p.Glu107Lys)	MXRA7 (E107K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152724	NM_198530.4(MXRA7):c.136C>T (p.Pro46Ser)	MXRA7 (P46S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648318	NM_198530.4(MXRA7):c.343-181C>T	MXRA7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2612657	NM_001008528.3(MXRA7):c.550A>G (p.Lys184Glu)	MXRA7 (K153E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591445	NM_198530.4(MXRA7):c.464A>T (p.Lys155Met)	MXRA7 (K155M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529977	NM_001008528.3(MXRA7):c.518T>C (p.Leu173Pro)	MXRA7 (L216P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510744	NM_001008528.3(MXRA7):c.599G>A (p.Arg200Gln)	MXRA7 (R243Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467318	NM_198530.4(MXRA7):c.323A>T (p.Gln108Leu)	MXRA7 (Q108L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403231	NM_198530.4(MXRA7):c.11C>T (p.Pro4Leu)	MXRA7 (P4L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389560	NM_001008528.3(MXRA7):c.502G>A (p.Val168Ile)	MXRA7 (V137I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280736	NM_198530.4(MXRA7):c.232G>T (p.Ala78Ser)	MXRA7 (A78S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275136	NM_198530.4(MXRA7):c.405C>A (p.Asp135Glu)	MXRA7 (D135E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237900	NM_198530.4(MXRA7):c.304C>A (p.Pro102Thr)	MXRA7 (P102T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204312	NM_198530.4(MXRA7):c.410A>G (p.Glu137Gly)	MXRA7 (E137G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2203869	NM_198530.4(MXRA7):c.490G>A (p.Glu164Lys)	MXRA7 (E133K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	EVPL, EXOC7 +146 more	Copy number gain	not provided	GPathogenic
Select item 815954	GRCh37/hg19 17q25.1-25.3(chr17:74509193-75602123)x1	ST6GALNAC1, MGAT5B +10 more	Copy number loss	not provided	GUncertain significance
Select item 815953	GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3	AANAT, ACOX1 +84 more	Copy number gain	not provided	GPathogenic
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 more	Copy number gain	not provided	GLikely pathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443446	GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3	AANAT, AATK +128 more	Copy number gain	See cases	GPathogenic
Select item 443013	GRCh37/hg19 17q25.1-25.2(chr17:73992637-75099218)x4	AANAT, CDK3 +25 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 33