ClinVar for Gene (Select 112885) - ClinVar

Links from Gene

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3306143	NM_138415.5(PHF21B):c.209C>T (p.Pro70Leu)	PHF21B (P58L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3306142	NM_138415.5(PHF21B):c.943G>A (p.Gly315Ser)	PHF21B (G111S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212149	NM_138415.5(PHF21B):c.587C>T (p.Ser196Phe)	PHF21B (S196F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212148	NM_138415.5(PHF21B):c.487A>G (p.Met163Val)	PHF21B (M1V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3212147	NM_138415.5(PHF21B):c.307G>A (p.Val103Met)	PHF21B (V103M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3212146	NM_138415.5(PHF21B):c.263G>A (p.Arg88Gln)	PHF21B (R88Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3212145	NM_138415.5(PHF21B):c.1489G>A (p.Val497Ile)	PHF21B (V293I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212144	NM_138415.5(PHF21B):c.12G>C (p.Gln4His)	PHF21B (Q4H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212143	NM_138415.5(PHF21B):c.1053C>G (p.His351Gln)	PHF21B (H297Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062463	GRCh37/hg19 22q13.2-13.31(chr22:43920110-46548382)x1	ARHGAP8, ATXN10 +24 more	Copy number loss	not specified	GLikely pathogenic
Select item 3062451	GRCh37/hg19 22q13.2-13.33(chr22:43107363-51156692)x1	A4GALT, ADM2 +78 more	Copy number loss	not specified	GPathogenic
Select item 3062450	GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	A4GALT, ACO2 +106 more	Copy number gain	not specified	GPathogenic
Select item 3062449	GRCh37/hg19 22q13.2-13.33(chr22:44034281-51197838)x1	ACR, ADM2 +69 more	Copy number loss	not specified	GPathogenic
Select item 3062442	GRCh37/hg19 22q13.31-13.33(chr22:44502872-51183871)x1	CELSR1, CERK +64 more	Copy number loss	not specified	GPathogenic
Select item 3062348	GRCh38/hg38 22q13.31-13.33(chr22:44549957-50789329)	CHKB, LOC112695108 +404 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 2672923	GRCh37/hg19 22q13.2-13.33(chr22:43820992-51218654)x1	ACR, ADM2 +71 more	Copy number loss	not provided	GPathogenic
Select item 2612427	NM_138415.5(PHF21B):c.974C>T (p.Ala325Val)	PHF21B (A121V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607715	NM_138415.5(PHF21B):c.65T>G (p.Leu22Arg)	PHF21B (L10R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2589903	NM_138415.5(PHF21B):c.1069G>T (p.Ala357Ser)	PHF21B (A153S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541548	NM_138415.5(PHF21B):c.1035G>C (p.Trp345Cys)	PHF21B (W303C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499652	GRCh38/hg38 22q13.31(chr22:44184196-45239435)	ARHGAP8, KIAA0930 +39 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 2454997	NM_138415.5(PHF21B):c.1355G>A (p.Arg452Gln)	PHF21B (R452Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388902	NM_138415.5(PHF21B):c.1364C>T (p.Ala455Val)	PHF21B (A251V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388869	NM_138415.5(PHF21B):c.745C>T (p.Arg249Trp)	PHF21B (R207W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388552	NM_138415.5(PHF21B):c.719C>T (p.Thr240Met)	PHF21B (T186M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388250	NM_138415.5(PHF21B):c.1435C>G (p.Leu479Val)	PHF21B (L425V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371075	NM_138415.5(PHF21B):c.1159C>G (p.Pro387Ala)	PHF21B (P387A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368152	NM_138415.5(PHF21B):c.1010C>T (p.Ala337Val)	PHF21B (A283V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363139	NM_138415.5(PHF21B):c.278A>G (p.Lys93Arg)	PHF21B (K81R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2362451	NM_138415.5(PHF21B):c.676C>T (p.His226Tyr)	PHF21B (H226Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356482	NM_138415.5(PHF21B):c.725C>T (p.Pro242Leu)	PHF21B (P200L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348721	NM_138415.5(PHF21B):c.314G>A (p.Ser105Asn)	PHF21B (S105N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2273075	NM_138415.5(PHF21B):c.187G>A (p.Gly63Arg)	PHF21B (G51R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2263829	NM_138415.5(PHF21B):c.1126C>T (p.Leu376Phe)	PHF21B (L376F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241410	NM_138415.5(PHF21B):c.1453C>G (p.Leu485Val)	PHF21B (L431V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209695	NM_138415.5(PHF21B):c.23A>C (p.Glu8Ala)	PHF21B (E8A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207611	NM_138415.5(PHF21B):c.505G>A (p.Val169Met)	PHF21B (V169M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808266	GRCh37/hg19 22q13.31-13.33(chr22:44390702-51137629)x1	ADM2, ALG12 +64 more	Copy number loss	not provided	GPathogenic
Select item 1807817	GRCh37/hg19 22q13.2-13.33(chr22:44178749-51183840)x1	ACR, ADM2 +69 more	Copy number loss	not provided	GPathogenic
Select item 1803808	GRCh37/hg19 22q13.2-13.33(chr22:43436847-51188164)x3	MIOX, MPPED1 +76 more	Copy number gain	not provided	GPathogenic
Select item 1526739	GRCh37/hg19 22q13.2-13.31(chr22:43451316-46662660)	ARHGAP8, ATXN10 +33 more	Copy number loss	not specified	GPathogenic
Select item 1526738	GRCh37/hg19 22q13.2-13.33(chr22:42972719-51197838)	A4GALT, ACR +82 more	Copy number loss	not specified	GPathogenic
Select item 1330161	GRCh37/hg19 22q13.2-13.33(chr22:42321321-51244066)x1	A4GALT, ACR +96 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 997819	Single allele	BIK, BRD1 +94 more	Deletion	Intellectual disability	GPathogenic
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 979613	GRCh37/hg19 22q13.31(chr22:44795975-45297787)x3	PRR5-ARHGAP8, ARHGAP8 +3 more	Copy number gain	not provided	GUncertain significance
Select item 979612	GRCh37/hg19 22q13.31(chr22:44649786-45866882)x3	PRR5, RIBC2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 979611	GRCh37/hg19 22q13.31(chr22:44705738-45475334)x3	PRR5, PRR5-ARHGAP8 +4 more	Copy number gain	not provided	GUncertain significance
Select item 976876	NC_000022.11:g.44702479_50806138del	CPT1B, CRELD2 +401 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976875	NC_000022.11:g.44245760_50806121del	LOC121627953, LOC121627954 +411 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976870	NC_000022.11:g.43802117_50806121del	DENND6B, EFCAB6 +443 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976862	NC_000022.11:g.43032129_50739836del	CRELD2, DENND6B +471 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 932299	Single allele	ATXN10, BRD1 +45 more	Copy number loss	22q13.3 interstitial deletion	GPathogenic
Select item 816565	GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3	A4GALT, ACO2 +126 more	Copy number gain	not provided	GPathogenic
Select item 816502	GRCh37/hg19 22q13.31(chr22:44642723-45340485)x3	SHISAL1, RTL6 +4 more	Copy number gain	See cases	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 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 625738	GRCh37/hg19 22q13.31-13.33(chr22:45075720-51181759)	ACR, ADM2 +60 more	Copy number loss	not provided	GPathogenic
Select item 625737	GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759)	A4GALT, ACR +92 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 565054	GRCh37/hg19 22q13.2-13.33(chr22:42955616-51183840)x1	A4GALT, ACR +83 more	Copy number loss	not provided	GPathogenic
Select item 565053	GRCh37/hg19 22q13.2-13.33(chr22:43111156-51183840)x1	A4GALT, ACR +79 more	Copy number loss	not provided	GPathogenic
Select item 565052	GRCh37/hg19 22q13.2-13.33(chr22:43320284-51183840)x1	ACR, ADM2 +77 more	Copy number loss	not provided	GPathogenic
Select item 565051	GRCh37/hg19 22q13.31-13.33(chr22:44789956-51183840)x1	ACR, ADM2 +61 more	Copy number loss	not provided	GPathogenic
Select item 443581	GRCh37/hg19 22q13.2-13.33(chr22:43050743-51197838)x1	A4GALT, ACR +79 more	Copy number loss	See cases	GPathogenic
Select item 443057	GRCh37/hg19 22q13.31-13.33(chr22:45261208-51197838)x1	ACR, ADM2 +57 more	Copy number loss	See cases	GPathogenic
Select item 442593	GRCh37/hg19 22q13.2-13.33(chr22:43875989-51197838)x1	ACR, ADM2 +70 more	Copy number loss	See cases	GPathogenic
Select item 441707	GRCh37/hg19 22q13.2-13.33(chr22:43381459-51197838)x1	ACR, ADM2 +77 more	Copy number loss	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 441574	GRCh37/hg19 22q13.2-13.33(chr22:42441918-51197838)x1	A4GALT, ACR +91 more	Copy number loss	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 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253559	GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3	ADM2, A4GALT +128 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 155419	GRCh38/hg38 22q13.31(chr22:44832749-46353315)x3	ARHGAP8, ATXN10 +105 more	Copy number gain	See cases	GUncertain significance
Select item 154688	GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3	LOC126863184, LOC126863185 +541 more	Copy number gain	See cases	GPathogenic
Select item 153178	GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3	LOC126863187, LOC126863188 +523 more	Copy number gain	See cases	GPathogenic
Select item 152914	GRCh38/hg38 22q13.2-13.33(chr22:42837094-50735806)x1	ADM2, ALG12 +481 more	Copy number loss	See cases	GPathogenic
Select item 152340	GRCh38/hg38 22q13.2-13.33(chr22:43187980-50745444)x1	ACR, ADM2 +451 more	Copy number loss	See cases	GPathogenic
Select item 148050	GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3	CIMAP1B, CPT1B +492 more	Copy number gain	See cases	GPathogenic
Select item 147775	GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1	A4GALT, ACR +580 more	Copy number loss	See cases	GPathogenic
Select item 147743	GRCh38/hg38 22q13.31-13.33(chr22:44764289-50739836)x1	ACR, ADM2 +396 more	Copy number loss	See cases	GPathogenic
Select item 147622	GRCh38/hg38 22q13.2-13.33(chr22:42493445-50268479)x1	A4GALT, ALG12 +428 more	Copy number loss	See cases	GPathogenic
Select item 147377	GRCh38/hg38 22q13.31-13.33(chr22:44797239-50739836)x3	ACR, ADM2 +396 more	Copy number gain	See cases	GPathogenic
Select item 146895	GRCh38/hg38 22q13.31-13.33(chr22:43992879-50683114)x3	ADM2, ALG12 +428 more	Copy number gain	See cases	GBenign
Select item 146215	GRCh38/hg38 22q13.2-13.31(chr22:42197923-47305564)x4	LOC130067605, LOC130067606 +303 more	Copy number gain	See cases	GPathogenic
Select item 146121	GRCh38/hg38 22q13.31-13.33(chr22:43902561-50739836)x1	ACR, ADM2 +434 more	Copy number loss	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 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067596, LOC130067597 +687 more	Copy number gain	See cases	GPathogenic
Select item 144383	GRCh38/hg38 22q13.31-13.33(chr22:44606363-50739836)x1	ACR, ADM2 +401 more	Copy number loss	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 57947	GRCh38/hg38 22q13.31-13.33(chr22:44811200-50739836)x3	LOC130067697, LOC130067698 +396 more	Copy number gain	See cases	GPathogenic
Select item 57945	GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3	LOC126863187, LOC126863188 +495 more	Copy number gain	See cases	GPathogenic
Select item 57944	GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3	A4GALT, ADM2 +502 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 57672	GRCh38/hg38 22q13.31-13.33(chr22:44740175-50739836)x1	ACR, ADM2 +396 more	Copy number loss	See cases	GPathogenic
Select item 57670	GRCh38/hg38 22q13.31-13.33(chr22:43807366-50739836)x1	ACR, ADM2 +441 more	Copy number loss	See cases	GPathogenic
Select item 57669	GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1	LOC130067640, LOC130067641 +483 more	Copy number loss	See cases	GPathogenic
Select item 57636	GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1	A4GALT, ACR +521 more	Copy number loss	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: 100