ClinVar for Gene (Select 5957) - ClinVar

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Links from Gene

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3152765	NM_002903.3(RCVRN):c.94T>C (p.Tyr32His)	RCVRN (Y32H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152764	NM_002903.3(RCVRN):c.89C>T (p.Ser30Phe)	RCVRN (S30F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152763	NM_002903.3(RCVRN):c.307G>C (p.Glu103Gln)	RCVRN (E103Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152762	NM_002903.3(RCVRN):c.232G>C (p.Asp78His)	RCVRN (D78H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 2609260	NM_002903.3(RCVRN):c.128G>A (p.Arg43His)	RCVRN (R43H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 2536656	NM_002903.3(RCVRN):c.271C>T (p.His91Tyr)	RCVRN (H91Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467080	NM_002903.3(RCVRN):c.164A>C (p.Lys55Thr)	RCVRN (K55T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807887	GRCh37/hg19 17p13.1(chr17:9695852-10118691)x3	GAS7, GLP2R +1 more	Copy number gain	not provided	GUncertain significance
Select item 1526569	GRCh37/hg19 17p13.1(chr17:7929776-9995862)	ALOX12B, ALOX15B +36 more	Copy number gain	not specified	GUncertain significance
Select item 832118	NC_000017.11:g.(?_9794928)_(10547930_?)del	GAS7, GLP2R +6 more	Deletion	Myopathy, proximal, and ophthalmoplegia	GPathogenic
Select item 781346	NM_002903.3(RCVRN):c.400A>G (p.Thr134Ala)	RCVRN (T134A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 442648	GRCh37/hg19 17p13.1(chr17:7431013-9868179)x3	ALOX12B, ALOX15B +61 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 393837	GRCh37/hg19 17p13.1(chr17:9751024-9804265)x3	GLP2R, RCVRN	Copy number gain	See cases	GUncertain significance
Select item 221395	GRCh38/hg38 17p13.1-12(chr17:9701182-11983353)x1	ADPRM, DHRS7C +57 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221346	Single allele	ADORA2B, ADPRM +41 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 24