ClinVar for Gene (Select 10231) - ClinVar - NCBI

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Links from Gene

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3313400	NM_001251974.2(RCAN2):c.394G>T (p.Ala132Ser)	RCAN2 (A132S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152678	NM_001251974.2(RCAN2):c.596G>C (p.Gly199Ala)	RCAN2 (G153A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656618	NM_001251974.2(RCAN2):c.12A>C (p.Glu4Asp)	RCAN2 (E4D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2623103	NM_001251974.2(RCAN2):c.273C>A (p.Phe91Leu)	RCAN2 (F91L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551237	NM_001251974.2(RCAN2):c.226-76532G>A	LOC101926915, RCAN2 (V18M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480392	NM_001251974.2(RCAN2):c.414G>C (p.Glu138Asp)	RCAN2 (E138D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319835	NM_001251974.2(RCAN2):c.461A>G (p.Gln154Arg)	RCAN2 (Q108R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305520	NM_001251974.2(RCAN2):c.445C>G (p.Pro149Ala)	RCAN2 (P103A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1676306	GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3	PAQR8, PGK2 +92 more	Copy number gain	not provided	GLikely pathogenic
Select item 1527236	GRCh37/hg19 6p21.1-12.3(chr6:43636308-50947320)	ADGRF5, ANKRD66 +50 more	Copy number loss	not specified	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 149301	GRCh38/hg38 6p21.1-12.1(chr6:45681671-54212044)x1	GSTA3, GSTA4 +228 more	Copy number loss	See cases	GPathogenic
Select item 146275	GRCh38/hg38 6p21.1-12.3(chr6:44985760-47986838)x3	ADGRF1, ADGRF2 +78 more	Copy number gain	See cases	GLikely pathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC132089395, LOC132089396 +324 more	Copy number loss	See cases	GPathogenic