RND2[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 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 373888	NG_005905.2:g.(?_92501)_(135581_1441370)del(;)(147057_150288)_(160933_166866)del	LOC126862571, LOC130060934 +6 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 373863	NG_005905.2:g.(?_92501)_(135581_1441370)del	LOC126862571, LOC130060934 +6 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3154889	NM_005440.5(RND2):c.191G>T (p.Gly64Val)	RND2 (G64V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601063	NM_005440.5(RND2):c.269G>A (p.Arg90Gln)	RND2 (R90Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154890	NM_005440.5(RND2):c.370C>T (p.Arg124Trp)	RND2 (R124W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231366	NM_005440.5(RND2):c.389T>C (p.Leu130Pro)	RND2 (L130P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538228	NM_005440.5(RND2):c.419C>T (p.Pro140Leu)	RND2 (P140L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490811	NM_005440.5(RND2):c.490C>T (p.Arg164Trp)	RND2 (R164W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490716	NM_005440.5(RND2):c.514G>A (p.Asp172Asn)	RND2 (D172N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519226	NM_005440.5(RND2):c.517G>A (p.Val173Ile)	RND2 (V173I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302374	NM_005440.5(RND2):c.521T>A (p.Phe174Tyr)	RND2 (F174Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154891	NM_005440.5(RND2):c.563A>G (p.Gln188Arg)	RND2 (Q188R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681519	NM_005440.5(RND2):c.568C>T (p.Arg190Cys)	RND2 (R190C)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2568490	NM_005440.5(RND2):c.587G>A (p.Arg196Gln)	RND2 (R196Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300402	NM_005440.5(RND2):c.592A>G (p.Met198Val)	RND2 (M198V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508094	NM_005440.5(RND2):c.599G>A (p.Arg200Gln)	RND2 (R200Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375994	NM_005440.5(RND2):c.619C>T (p.Arg207Trp)	RND2 (R207W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333391	NM_005440.5(RND2):c.620G>A (p.Arg207Gln)	RND2 (R207Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243127	NC_000017.10:g.(?_41154670)_(41277500_?)dup	BRCA1, IFI35 +3 more	Duplication	not provided	GUncertain significance
Select item 2692399	NC_000017.10:g.41176290_41198621delinsCACCTCCACCTCCCGGGGTCAAGCGATTCTCCTGCCTCAGCCTCCCSAGTAGCTGGGACTACGGGCACGCGCCMCCMCGCCCGGCTACTTTTTGTATTTTTAGTGGAGACGGGGTTTCCCCATG	BRCA1, RND2	Indel	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 1809350	GRCh37/hg19 17q21.31(chr17:41105913-41307101)x3	AARSD1, BRCA1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic

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Items: 26