ClinVar for Gene (Select 253190) - ClinVar

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

Links from Gene

Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3317519	NM_014509.5(SERHL2):c.905C>T (p.Ser302Phe)	SERHL2 (S302F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317518	NM_014509.5(SERHL2):c.670A>G (p.Ile224Val)	SERHL2 (I224V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3248111	NC_000022.10:g.(?_42564659)_(43089957_?)dup	POLDIP3, A4GALT +6 more	Duplication	not provided	GUncertain significance
Select item 3160243	NM_014509.5(SERHL2):c.91C>A (p.Gln31Lys)	SERHL2 (Q31K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3160242	NM_014509.5(SERHL2):c.874G>A (p.Glu292Lys)	SERHL2 (E228K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160241	NM_014509.5(SERHL2):c.788C>T (p.Ser263Leu)	SERHL2 (S199L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3160240	NM_014509.5(SERHL2):c.77C>T (p.Ala26Val)	SERHL2 (A26V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3160239	NM_014509.5(SERHL2):c.774G>C (p.Glu258Asp)	SERHL2 (E194D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3160238	NM_014509.5(SERHL2):c.716A>G (p.His239Arg)	SERHL2 (H239R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3160236	NM_014509.5(SERHL2):c.670A>C (p.Ile224Leu)	SERHL2 (I224L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160235	NM_014509.5(SERHL2):c.151C>T (p.Leu51Phe)	SERHL2 (L51F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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 2621443	NM_014509.5(SERHL2):c.572G>A (p.Gly191Glu)	SERHL2 (G191E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620003	NM_014509.5(SERHL2):c.692A>G (p.His231Arg)	SERHL2 (H167R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539681	NM_014509.5(SERHL2):c.662T>C (p.Ile221Thr)	SERHL2 (I221T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527909	NM_014509.5(SERHL2):c.17C>T (p.Ala6Val)	SERHL2 (A6V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525665	NM_014509.5(SERHL2):c.145G>A (p.Asp49Asn)	SERHL2 (D49N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2514233	NM_014509.5(SERHL2):c.623T>C (p.Leu208Pro)	SERHL2 (L208P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425394	NC_000022.10:g.(?_42456283)_(43089957_?)del	A4GALT, ATP5MGL +11 more	Deletion	not provided	GPathogenic
Select item 2393964	NM_014509.5(SERHL2):c.833A>T (p.Gln278Leu)	SERHL2 (Q278L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391371	NM_014509.5(SERHL2):c.742G>A (p.Gly248Arg)	SERHL2 (G184R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389682	NM_014509.5(SERHL2):c.886G>A (p.Val296Met)	SERHL2 (V296M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377154	NM_014509.5(SERHL2):c.878C>T (p.Pro293Leu)	SERHL2 (P293L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339842	NM_014509.5(SERHL2):c.147C>A (p.Asp49Glu)	SERHL2 (D49E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2339841	NM_014509.5(SERHL2):c.145G>C (p.Asp49His)	SERHL2 (D49H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2291826	NM_014509.5(SERHL2):c.877C>A (p.Pro293Thr)	SERHL2 (P293T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266411	NM_014509.5(SERHL2):c.712G>A (p.Ala238Thr)	SERHL2 (A174T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251458	NM_014509.5(SERHL2):c.329G>C (p.Gly110Ala)	SERHL2 (G110A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216176	NM_014509.5(SERHL2):c.553C>T (p.His185Tyr)	SERHL2 (H121Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808907	GRCh37/hg19 22q13.2(chr22:42765874-43059475)x3	ATP5MGL, CYB5R3 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1447656	NC_000022.10:g.(?_41277754)_(43089957_?)dup	ATP5MGL, CCDC134 +38 more	Duplication	Immunodeficiency, common variable, 4	GUncertain significance
Select item 1341290	GRCh37/hg19 22q13.2(chr22:42918726-42982572)x1	POLDIP3, SERHL2	Copy number loss	not provided	GLikely benign
Select item 1341218	GRCh37/hg19 22q13.2(chr22:42955615-43866280)x1	A4GALT, ARFGAP3 +12 more	Copy number loss	not provided	GUncertain significance
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 1077183	Single allele	A4GALT, ARFGAP3 +19 more	Deletion	Developmental delay with variable intellectual impairment and behavioral abnormalities	GPathogenic
Select item 997819	Single allele	BIK, BRD1 +94 more	Deletion	Intellectual disability	GPathogenic
Select item 997811	Single allele	WBP2NL, ARFGAP3 +21 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 816565	GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3	A4GALT, ACO2 +126 more	Copy number gain	not provided	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 685140	GRCh37/hg19 22q13.2(chr22:42724042-43879561)x3	A4GALT, ARFGAP3 +14 more	Copy number gain	not provided	GUncertain significance
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 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 154845	GRCh38/hg38 22q13.2(chr22:42366219-42565801)x1	LINC01315, LOC101927344 +19 more	Copy number loss	See cases	GLikely benign
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 147775	GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1	A4GALT, ACR +580 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 147321	GRCh38/hg38 22q13.2(chr22:41645339-42565798)x1	LOC130067597, LOC130067598 +91 more	Copy number loss	See cases	GUncertain significance
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 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 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 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 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: 64