ClinVar for Gene (Select 5008) - ClinVar

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Links from Gene

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3207171	NM_020530.6(OSM):c.85G>A (p.Gly29Ser)	OSM (G29S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207170	NM_020530.6(OSM):c.524C>A (p.Pro175Gln)	OSM (P154Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207169	NM_020530.6(OSM):c.509G>A (p.Arg170Gln)	OSM (R149Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207167	NM_020530.6(OSM):c.478T>G (p.Ser160Ala)	OSM (S160A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207166	NM_020530.6(OSM):c.422C>G (p.Pro141Arg)	OSM (P141R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207165	NM_020530.6(OSM):c.302C>A (p.Ala101Asp)	OSM (A101D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207164	NM_020530.6(OSM):c.214G>C (p.Glu72Gln)	OSM (E51Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207163	NM_020530.6(OSM):c.104A>G (p.Tyr35Cys)	OSM (Y14C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207162	NM_020530.6(OSM):c.101A>T (p.Glu34Val)	OSM (E13V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612564	NM_020530.6(OSM):c.269T>C (p.Leu90Pro)	OSM (L69P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609460	NM_020530.6(OSM):c.166C>G (p.Leu56Val)	OSM (L35V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607713	NM_020530.6(OSM):c.359C>T (p.Ala120Val)	OSM (A120V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601085	NM_020530.6(OSM):c.604A>G (p.Met202Val)	OSM (M181V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596132	NM_020530.6(OSM):c.736A>C (p.Thr246Pro)	OSM (T225P +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2589206	NM_020530.6(OSM):c.697C>T (p.Arg233Cys)	OSM (R212C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552904	NM_020530.6(OSM):c.21G>T (p.Gln7His)	OSM (Q7H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525374	NM_020530.6(OSM):c.391G>A (p.Glu131Lys)	OSM (E131K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523456	NM_020530.6(OSM):c.436C>T (p.Leu146Phe)	OSM (L146F +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2484841	NM_020530.6(OSM):c.506G>T (p.Gly169Val)	OSM (G169V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392453	NM_020530.6(OSM):c.619C>T (p.Arg207Trp)	OSM (R186W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383413	NM_020530.6(OSM):c.235G>A (p.Gly79Arg)	OSM (G58R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364707	NM_020530.6(OSM):c.485C>T (p.Thr162Met)	OSM (T141M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2351236	NM_020530.6(OSM):c.694G>A (p.Val232Met)	OSM (V211M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350684	NM_020530.6(OSM):c.422C>T (p.Pro141Leu)	OSM (P120L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344388	NM_020530.6(OSM):c.380G>A (p.Gly127Glu)	OSM (G127E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306608	NM_020530.6(OSM):c.72C>A (p.Ser24Arg)	OSM (S3R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305636	NM_020530.6(OSM):c.334G>A (p.Asp112Asn)	OSM (D112N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303172	NM_020530.6(OSM):c.7G>A (p.Val3Ile)	OSM (V3I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283406	NM_020530.6(OSM):c.74T>C (p.Met25Thr)	OSM (M25T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265501	NM_020530.6(OSM):c.107G>A (p.Arg36His)	OSM (R15H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2253856	NM_020530.6(OSM):c.691G>A (p.Gly231Arg)	OSM (G231R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247628	NM_020530.6(OSM):c.256A>G (p.Thr86Ala)	OSM (T65A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2210369	NM_020530.6(OSM):c.514G>A (p.Ala172Thr)	OSM (A151T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1808303	GRCh37/hg19 22q12.2(chr22:30649178-31035087)x3	CASTOR1, CCDC157 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1466555	NC_000022.10:g.(?_29083885)_(34046674_?)dup	SF3A1, SFI1 +71 more	Duplication	not provided	GUncertain significance
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 634999	inv(22)(q12.2q12.2)	NEFH, PIK3IP1 +42 more	Inversion	Anaplastic ependymoma	GLikely pathogenic
Select item 565055	GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3	ADORA2A, AP1B1 +129 more	Copy number gain	not provided	GPathogenic
Select item 565022	GRCh37/hg19 22q12.2(chr22:29644625-31051719)x1	AP1B1, ASCC2 +32 more	Copy number loss	not provided	GPathogenic
Select item 442415	GRCh37/hg19 22q12.1-12.3(chr22:28349854-33013062)x3	AP1B1, ASCC2 +70 more	Copy number gain	See cases	GLikely pathogenic
Select item 441826	GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3	ADORA2A, AP1B1 +131 more	Copy number gain	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	A4GALT, ACO2 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	C22orf15, C22orf23 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	SLC5A1, SLC5A4 +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 155348	GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)x1	LOC130067166, LOC130067167 +260 more	Copy number loss	See cases	GPathogenic
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067246, LOC130067247 +556 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	LOC130067137, LOC130067138 +823 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC126863153, LOC126863154 +2088 more	Copy number gain	See cases	GPathogenic
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	A4GALT, ACO2 +2088 more	Copy number gain	See cases	GPathogenic
Select item 59074	GRCh38/hg38 22q12.1-12.2(chr22:28441035-30276511)x1	AP1B1, ASCC2 +89 more	Copy number loss	See cases	GPathogenic
Select item 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	See cases	GPathogenic
Select item 57002	GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3	AP1B1, ASCC2 +307 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 56