ClinVar for Gene (Select 91445) - ClinVar

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Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3314805	NM_152267.4(RNF185):c.254G>C (p.Arg85Pro)	LOC107275221, RNF185 (R85P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3314804	NM_152267.4(RNF185):c.469C>T (p.Arg157Trp)	RNF185 (R101W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155221	NM_152267.4(RNF185):c.572T>C (p.Ile191Thr)	RNF185 (I135T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155220	NM_152267.4(RNF185):c.526C>T (p.Arg176Cys)	RNF185 (R176C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155219	NM_152267.4(RNF185):c.322C>G (p.Pro108Ala)	RNF185 (P108A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3155218	NM_152267.4(RNF185):c.312G>C (p.Glu104Asp)	RNF185 (E104D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2607390	NM_152267.4(RNF185):c.349C>A (p.Pro117Thr)	RNF185 (P117T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2512264	NM_152267.4(RNF185):c.550G>T (p.Val184Leu)	RNF185 (V184L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392157	NM_152267.4(RNF185):c.71G>A (p.Ser24Asn)	RNF185 (S24N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334378	NM_152267.4(RNF185):c.25T>G (p.Ser9Ala)	RNF185 (S9A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229522	NM_152267.4(RNF185):c.350C>T (p.Pro117Leu)	RNF185 (P117L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1466555	NC_000022.10:g.(?_29083885)_(34046674_?)dup	AP1B1, ASCC2 +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 979603	GRCh37/hg19 22q12.2(chr22:31565901-32105115)x1	LIMK2, PISD +7 more	Copy number loss	not provided	GUncertain significance
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 779392	NM_152267.4(RNF185):c.183G>A (p.Pro61=)	RNF185	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 442415	GRCh37/hg19 22q12.1-12.3(chr22:28349854-33013062)x3	DEPDC5, DRG1 +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)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +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	AP1B1, ASCC2 +260 more	Copy number loss	See cases	GPathogenic
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067187, LOC130067188 +556 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	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: 33