ClinVar for Gene (Select 10266) - ClinVar - NCBI

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Links from Gene

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3032432	NM_005854.3(RAMP2):c.97+8C>T	LOC130060924, RAMP2	Single nucleotide variant (intron variant)	RAMP2-related condition	GLikely benign
Select item 2613336	NM_005854.3(RAMP2):c.410C>G (p.Thr137Ser)	RAMP2 (T137S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596843	NM_005854.3(RAMP2):c.375G>C (p.Gln125His)	RAMP2 (Q125H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568459	NM_005854.3(RAMP2):c.25G>A (p.Ala9Thr)	RAMP2 (A9T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491636	NM_005854.3(RAMP2):c.40C>T (p.Leu14Phe)	RAMP2 (L14F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354230	NM_005854.3(RAMP2):c.16G>A (p.Val6Met)	RAMP2 (V6M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319300	NM_005854.3(RAMP2):c.170C>T (p.Thr57Met)	RAMP2 (T57M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2316253	NM_005854.3(RAMP2):c.446T>C (p.Met149Thr)	RAMP2 (M149T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295591	NM_005854.3(RAMP2):c.31G>T (p.Gly11Cys)	RAMP2 (G11C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240839	NM_005854.3(RAMP2):c.37C>G (p.Arg13Gly)	RAMP2 (R13G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 750255	NM_005854.3(RAMP2):c.420C>T (p.Asp140=)	RAMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +633 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +1753 more	Copy number gain	See cases	GPathogenic