ClinVar for Gene (Select 79629) - ClinVar

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Links from Gene

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3302129	NM_024578.3(OCEL1):c.161G>A (p.Arg54Gln)	OCEL1 (R54Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3302128	NM_024578.3(OCEL1):c.11C>G (p.Pro4Arg)	OCEL1 (P4R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3302127	NM_024578.3(OCEL1):c.482A>T (p.Glu161Val)	OCEL1 (E161V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302126	NM_024578.3(OCEL1):c.641G>A (p.Arg214Gln)	OCEL1 (R214Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302125	NM_024578.3(OCEL1):c.449A>G (p.Glu150Gly)	OCEL1 (E150G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203927	NM_024578.3(OCEL1):c.738G>T (p.Lys246Asn)	OCEL1 (K246N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203926	NM_024578.3(OCEL1):c.668G>A (p.Arg223Gln)	OCEL1 (R223Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3203925	NM_024578.3(OCEL1):c.641G>C (p.Arg214Pro)	OCEL1 (R214P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203924	NM_024578.3(OCEL1):c.47C>T (p.Ser16Leu)	OCEL1 (S16L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203923	NM_024578.3(OCEL1):c.394A>G (p.Ile132Val)	OCEL1 (I132V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203922	NM_024578.3(OCEL1):c.382G>A (p.Ala128Thr)	OCEL1 (A128T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3203921	NM_024578.3(OCEL1):c.145C>G (p.Leu49Val)	OCEL1 (L49V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 3062387	GRCh37/hg19 19p13.11(chr19:16857649-17423590)x3	NR2F6, NWD1 +13 more	Copy number gain	not specified	GUncertain significance
Select item 2684887	GRCh37/hg19 19p13.12-13.11(chr19:14888106-17360864)x3	ADGRE2, AKAP8 +55 more	Copy number gain	not provided	GUncertain significance
Select item 2618866	NM_024578.3(OCEL1):c.713T>C (p.Leu238Pro)	OCEL1 (L238P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605557	NM_024578.3(OCEL1):c.557C>T (p.Ala186Val)	OCEL1 (A186V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592363	NM_024578.3(OCEL1):c.53T>G (p.Leu18Arg)	OCEL1 (L18R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515260	NM_024578.3(OCEL1):c.202T>G (p.Ser68Ala)	OCEL1 (S68A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478791	NM_024578.3(OCEL1):c.290G>T (p.Arg97Leu)	OCEL1 (R97L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475976	NM_024578.3(OCEL1):c.604C>G (p.Pro202Ala)	OCEL1 (P202A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465729	NM_024578.3(OCEL1):c.490C>T (p.Arg164Cys)	OCEL1 (R164C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425869	NC_000019.9:g.(?_14847048)_(17394124_?)del	ADGRE2, AKAP8 +57 more	Deletion	not provided	GUncertain significance
Select item 2409334	NM_024578.3(OCEL1):c.640C>T (p.Arg214Trp)	OCEL1 (R214W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407591	NM_024578.3(OCEL1):c.253G>A (p.Gly85Arg)	OCEL1 (G85R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2353970	NM_024578.3(OCEL1):c.73G>T (p.Ala25Ser)	OCEL1 (A25S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353128	NM_024578.3(OCEL1):c.706C>G (p.His236Asp)	OCEL1 (H236D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345430	NM_024578.3(OCEL1):c.484C>T (p.Arg162Trp)	OCEL1 (R162W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341396	NM_024578.3(OCEL1):c.196C>T (p.Arg66Cys)	OCEL1 (R66C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341036	NM_024578.3(OCEL1):c.427C>A (p.Pro143Thr)	OCEL1 (P143T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338166	NM_024578.3(OCEL1):c.145C>A (p.Leu49Met)	OCEL1 (L49M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222655	NM_024578.3(OCEL1):c.630A>C (p.Gln210His)	OCEL1 (Q210H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 781446	NM_024578.3(OCEL1):c.10C>A (p.Pro4Thr)	OCEL1 (P4T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 777294	NM_024578.3(OCEL1):c.247-1G>C	OCEL1	Single nucleotide variant (splice acceptor variant)	not provided	GBenign
Select item 768978	NM_024578.3(OCEL1):c.757G>A (p.Asp253Asn)	OCEL1 (D253N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 730918	NM_024578.3(OCEL1):c.729G>A (p.Arg243=)	OCEL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 727150	NM_024578.3(OCEL1):c.231T>A (p.Pro77=)	OCEL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 720779	NM_024578.3(OCEL1):c.606A>C (p.Pro202=)	OCEL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 717086	NM_024578.3(OCEL1):c.247-1G>A	OCEL1	Single nucleotide variant (splice acceptor variant)	not provided	GBenign
Select item 708619	NM_024578.3(OCEL1):c.624G>A (p.Glu208=)	OCEL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 708618	NM_024578.3(OCEL1):c.227C>G (p.Pro76Arg)	OCEL1 (P76R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 688037	GRCh37/hg19 19p13.11(chr19:16875725-17477318)x1	ABHD8, ANKLE1 +16 more	Copy number loss	not provided	GUncertain significance
Select item 560145	Single allele	ABHD8, ANKLE1 +16 more	Duplication	not provided	GUncertain significance
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 442665	GRCh37/hg19 19p13.12-13.11(chr19:15921132-17479860)x1	ANO8, ABHD8 +35 more	Copy number loss	See cases	GLikely pathogenic
Select item 441789	GRCh37/hg19 19p13.11(chr19:17325373-17840956)x1	ABHD8, ANKLE1 +21 more	Copy number loss	See cases	GUncertain significance
Select item 424641	GRCh37/hg19 19p13.12-13.11(chr19:15970389-17893528)x1	HSH2D, KLF2 +46 more	Copy number loss	not provided	GPathogenic
Select item 253857	GRCh37/hg19 19p13.11(chr19:17001280-17536087)x3	ABHD8, ANKLE1 +16 more	Copy number gain	See cases	GUncertain significance
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 54