ClinVar for Gene (Select 56344) - ClinVar

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Links from Gene

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3136252	NM_019855.5(CABP5):c.436G>C (p.Glu146Gln)	CABP5 (E146Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136251	NM_019855.5(CABP5):c.338C>G (p.Ala113Gly)	CABP5 (A113G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136250	NM_019855.5(CABP5):c.229C>T (p.Arg77Cys)	CABP5 (R77C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136249	NM_019855.5(CABP5):c.196G>C (p.Glu66Gln)	CABP5 (E66Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519349	NM_019855.5(CABP5):c.179T>A (p.Met60Lys)	CABP5 (M60K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388173	NM_019855.5(CABP5):c.356C>T (p.Thr119Met)	CABP5 (T119M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385821	NM_019855.5(CABP5):c.86A>C (p.Glu29Ala)	CABP5 (E29A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374310	NM_019855.5(CABP5):c.459G>T (p.Glu153Asp)	CABP5 (E153D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353947	NM_019855.5(CABP5):c.62G>A (p.Arg21Gln)	CABP5 (R21Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343658	NM_019855.5(CABP5):c.121G>A (p.Asp41Asn)	CABP5 (D41N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312017	NM_019855.5(CABP5):c.166C>G (p.Leu56Val)	CABP5 (L56V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260981	NM_019855.5(CABP5):c.134A>G (p.Asp45Gly)	CABP5 (D45G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234498	NM_019855.5(CABP5):c.494A>C (p.Glu165Ala)	CABP5 (E165A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227132	NM_019855.5(CABP5):c.421C>T (p.Arg141Trp)	CABP5 (R141W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 688109	GRCh37/hg19 19q13.33(chr19:48119589-49595956)x3	HSD17B14, IZUMO1 +58 more	Copy number gain	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 254012	GRCh37/hg19 19q13.33(chr19:48345470-48575975)x3	CRX, BSPH1 +4 more	Copy number gain	See cases	GUncertain significance
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	LOC129391127, LOC129391128 +363 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	LOC130064822, LOC130064823 +290 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 26