ClinVar for Gene (Select 126014) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3303596	NM_133169.6(OSCAR):c.655+19G>A	OSCAR (R225Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303595	NM_133169.6(OSCAR):c.514T>A (p.Tyr172Asn)	OSCAR (Y176N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303594	NM_133169.6(OSCAR):c.451G>C (p.Ala151Pro)	OSCAR (A151P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303593	NM_133169.6(OSCAR):c.640G>C (p.Val214Leu)	OSCAR (V214L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207138	NM_133169.6(OSCAR):c.74C>T (p.Pro25Leu)	OSCAR (P29L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207137	NM_133169.6(OSCAR):c.655+120G>C	OSCAR (V259L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207136	NM_133169.6(OSCAR):c.655+52C>A	OSCAR (P236Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207135	NM_133169.6(OSCAR):c.655+48G>A	OSCAR (A235T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207133	NM_133169.6(OSCAR):c.500C>T (p.Ala167Val)	OSCAR (A167V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207132	NM_133169.6(OSCAR):c.499G>T (p.Ala167Ser)	OSCAR (A167S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 2672793	GRCh37/hg19 19q13.42(chr19:54544215-54881884)x3	CNOT3, LAIR1 +18 more	Copy number gain	not provided	GUncertain significance
Select item 2589208	NM_133169.6(OSCAR):c.308G>A (p.Arg103Gln)	OSCAR (R103Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551690	NM_133169.6(OSCAR):c.144C>G (p.Asn48Lys)	OSCAR (N37K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470094	NM_133169.6(OSCAR):c.376G>A (p.Glu126Lys)	OSCAR (E115K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462624	NM_133169.6(OSCAR):c.152T>G (p.Leu51Trp)	OSCAR (L40W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459522	NM_133169.6(OSCAR):c.53C>T (p.Thr18Ile)	OSCAR (T18I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458875	NM_133169.6(OSCAR):c.505C>T (p.Pro169Ser)	OSCAR (P169S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386943	NM_133169.6(OSCAR):c.211G>T (p.Ala71Ser)	OSCAR (A75S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384862	NM_133169.6(OSCAR):c.436G>T (p.Val146Leu)	OSCAR (V135L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383646	NM_133169.6(OSCAR):c.65C>T (p.Pro22Leu)	OSCAR (P22L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352530	NM_133169.6(OSCAR):c.477C>G (p.Phe159Leu)	OSCAR (F148L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350843	NM_133169.6(OSCAR):c.655+109C>T	OSCAR (P255L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343531	NM_133169.6(OSCAR):c.440G>A (p.Ser147Asn)	OSCAR (S136N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342956	NM_133169.6(OSCAR):c.506C>T (p.Pro169Leu)	OSCAR (P158L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330158	NM_133169.6(OSCAR):c.308G>T (p.Arg103Leu)	OSCAR (R103L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321767	NM_133169.6(OSCAR):c.218T>C (p.Leu73Pro)	OSCAR (L77P +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2284880	NM_133169.6(OSCAR):c.644T>C (p.Ile215Thr)	OSCAR (I204T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266749	NM_133169.6(OSCAR):c.458G>A (p.Arg153His)	OSCAR (R142H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266253	NM_133169.6(OSCAR):c.171A>T (p.Gln57His)	OSCAR (Q46H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244544	NM_133169.6(OSCAR):c.428G>A (p.Gly143Asp)	OSCAR (G132D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243042	NM_133169.6(OSCAR):c.482T>A (p.Leu161Gln)	OSCAR (L150Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221958	NM_133169.6(OSCAR):c.445C>A (p.Arg149Ser)	OSCAR (R138S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219674	NM_133169.6(OSCAR):c.479T>C (p.Val160Ala)	OSCAR (V149A +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1443808	NC_000019.9:g.(?_54297303)_(55678016_?)dup	CACNG6, CACNG7 +51 more	Duplication	not provided	GUncertain significance
Select item 980772	GRCh37/hg19 19q13.42-13.43(chr19:54334195-56434037)x3	TMC4, TMEM150B +87 more	Copy number gain	not provided	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 816092	GRCh37/hg19 19q13.42(chr19:54474844-55181741)x3	CACNG6, CACNG8 +29 more	Copy number gain	not provided	GUncertain significance
Select item 564606	GRCh37/hg19 19q13.42-13.43(chr19:54196216-58759679)x3	ZNF548, ZNF549 +157 more	Copy number gain	not provided	GPathogenic
Select item 564602	GRCh37/hg19 19q13.42(chr19:53867570-55833460)x3	BRSK1, CACNG6 +68 more	Copy number gain	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 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic
Select item 253434	GRCh37/hg19 19q13.42(chr19:54280799-54635178)x1	CACNG6, CACNG7 +13 more	Copy number loss	See cases	GPathogenic
Select item 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	SSC5D, SYT5 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	TMC4, TMEM150B +537 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 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 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 54