ClinVar for Gene (Select 23151) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3282605	NM_015124.5(GRAMD4):c.106A>G (p.Ile36Val)	GRAMD4 (I36V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282604	NM_015124.5(GRAMD4):c.317A>G (p.Asn106Ser)	GRAMD4 (N106S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282603	NM_015124.5(GRAMD4):c.141C>G (p.Asp47Glu)	GRAMD4 (D47E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282602	NM_015124.5(GRAMD4):c.1309G>A (p.Gly437Ser)	GRAMD4 (G463S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102200	NM_015124.5(GRAMD4):c.679G>A (p.Asp227Asn)	GRAMD4 (D253N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102199	NM_015124.5(GRAMD4):c.58G>C (p.Asp20His)	GRAMD4 (D20H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102198	NM_015124.5(GRAMD4):c.517C>T (p.Arg173Trp)	GRAMD4 (R199W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102197	NM_015124.5(GRAMD4):c.472C>T (p.Arg158Trp)	GRAMD4 (R158W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102196	NM_015124.5(GRAMD4):c.416A>G (p.Gln139Arg)	GRAMD4 (Q139R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102195	NM_015124.5(GRAMD4):c.391G>T (p.Val131Leu)	GRAMD4 (V131L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2685682	GRCh37/hg19 22q13.31-13.33(chr22:45611226-51197838)x1	CELSR1, CERK +55 more	Copy number loss	not provided	GPathogenic
Select item 2684939	GRCh37/hg19 22q13.31-13.33(chr22:45657164-51197838)x3	ACR, ADM2 +54 more	Copy number gain	not provided	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 2618467	NM_015124.5(GRAMD4):c.202G>C (p.Asp68His)	GRAMD4 (D94H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618466	NM_015124.5(GRAMD4):c.1432A>G (p.Met478Val)	GRAMD4, LOC130067732 (M504V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615364	NM_015124.5(GRAMD4):c.137G>C (p.Arg46Pro)	GRAMD4 (R46P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613908	NM_015124.5(GRAMD4):c.1337A>G (p.Asn446Ser)	GRAMD4 (N446S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591192	NM_015124.5(GRAMD4):c.1183A>G (p.Ser395Gly)	GRAMD4 (S395G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590473	NM_015124.5(GRAMD4):c.1276G>A (p.Ala426Thr)	GRAMD4 (A452T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455026	NM_015124.5(GRAMD4):c.523G>A (p.Gly175Arg)	GRAMD4 (G175R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403425	NM_015124.5(GRAMD4):c.118G>A (p.Val40Ile)	GRAMD4 (V40I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2394423	NM_015124.5(GRAMD4):c.320C>T (p.Ala107Val)	GRAMD4 (A133V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392535	NM_015124.5(GRAMD4):c.1075C>T (p.Leu359Phe)	GRAMD4 (L385F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387697	NM_015124.5(GRAMD4):c.532G>A (p.Val178Met)	GRAMD4 (V178M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381343	NM_015124.5(GRAMD4):c.1616C>T (p.Thr539Met)	GRAMD4 (T539M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379341	NM_015124.5(GRAMD4):c.1282G>T (p.Ala428Ser)	GRAMD4 (A428S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378181	NM_015124.5(GRAMD4):c.691G>A (p.Val231Ile)	GRAMD4 (V231I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372012	NM_015124.5(GRAMD4):c.1721C>G (p.Ser574Cys)	GRAMD4 (S574C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350197	NM_015124.5(GRAMD4):c.704C>T (p.Ala235Val)	GRAMD4 (A235V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350196	NM_015124.5(GRAMD4):c.37C>T (p.His13Tyr)	GRAMD4 (H13Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345959	NM_015124.5(GRAMD4):c.958C>G (p.Leu320Val)	GRAMD4 (L320V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336261	NM_015124.5(GRAMD4):c.356A>G (p.Gln119Arg)	GRAMD4 (Q119R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306897	NM_015124.5(GRAMD4):c.583C>G (p.Pro195Ala)	GRAMD4 (P195A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305394	NM_015124.5(GRAMD4):c.133C>A (p.Pro45Thr)	GRAMD4 (P45T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304202	NM_015124.5(GRAMD4):c.1588G>C (p.Gly530Arg)	GRAMD4 (G530R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300385	NM_015124.5(GRAMD4):c.940G>A (p.Gly314Arg)	GRAMD4 (G314R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283988	NM_015124.5(GRAMD4):c.319G>A (p.Ala107Thr)	GRAMD4 (A133T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270617	NM_015124.5(GRAMD4):c.604A>C (p.Thr202Pro)	GRAMD4 (T228P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247283	NM_015124.5(GRAMD4):c.1289T>C (p.Leu430Pro)	GRAMD4 (L456P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224583	NM_015124.5(GRAMD4):c.491C>G (p.Ser164Trp)	GRAMD4 (S190W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215692	NM_015124.5(GRAMD4):c.145G>A (p.Glu49Lys)	GRAMD4 (E49K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214320	NM_015124.5(GRAMD4):c.296G>A (p.Arg99Gln)	GRAMD4 (R125Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213861	NM_015124.5(GRAMD4):c.493C>T (p.Arg165Cys)	GRAMD4 (R165C +1 more)	Single nucleotide variant (missense variant)	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 1808203	GRCh37/hg19 22q13.31-13.33(chr22:45889148-51197838)x1	CDPF1, CELSR1 +50 more	Copy number loss	not provided	GPathogenic
Select item 1807848	GRCh37/hg19 22q13.31-13.33(chr22:45977415-51183840)x1	ACR, ADM2 +50 more	Copy number loss	not provided	GPathogenic
Select item 1807836	GRCh37/hg19 22q13.31-13.33(chr22:45977448-51197838)x1	ACR, ADM2 +50 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 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 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 976873	NC_000022.11:g.46467175_50759338del	LOC130067779, LOC130067780 +281 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976872	NC_000022.11:g.45819932_50737806del	ADM2, ALG12 +333 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 976869	NC_000022.11:g.46489644_50806138del	LOC126863185, LOC126863186 +282 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976865	NC_000022.11:g.45708330_50737364del	TRABD, TRABD-AS1 +338 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976864	NC_000022.11:g.46269281_50740560del	ACR, ADM2 +295 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 816568	GRCh37/hg19 22q13.31(chr22:46799511-47767893)x3	TBC1D22A, GRAMD4 +2 more	Copy number gain	not provided	GUncertain significance
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 816232	GRCh37/hg19 22q13.31(chr22:46896864-47469215)x3	GRAMD4, CERK +2 more	Copy number gain	not provided	GLikely benign
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 731480	NM_015124.5(GRAMD4):c.118G>T (p.Val40Leu)	GRAMD4 (V66L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 688513	GRCh37/hg19 22q13.31-13.33(chr22:46432744-51197838)x3	ACR, ADM2 +47 more	Copy number gain	not provided	GPathogenic
Select item 688187	GRCh37/hg19 22q13.31(chr22:46946801-47064891)x4	GRAMD4	Copy number gain	not provided	GUncertain significance
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 626295	Single allele	ADM2, ALG12 +37 more	Deletion	not provided	GLikely pathogenic
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 565050	GRCh37/hg19 22q13.31-13.33(chr22:45994305-51183840)x1	ACR, ADM2 +50 more	Copy number loss	not provided	GPathogenic
Select item 565049	GRCh37/hg19 22q13.31-13.33(chr22:46667744-51183840)x1	BRD1, CELSR1 +41 more	Copy number loss	not provided	GPathogenic
Select item 565048	GRCh37/hg19 22q13.31-13.33(chr22:46768838-51197838)x1	ACR, ADM2 +38 more	Copy number loss	not provided	GPathogenic
Select item 565047	GRCh37/hg19 22q13.31-13.33(chr22:46780978-51183840)x1	ACR, ADM2 +38 more	Copy number loss	not provided	GPathogenic
Select item 564999	GRCh37/hg19 22q13.31(chr22:46781330-47173786)x3	CELSR1, TBC1D22A +2 more	Copy number gain	not provided	GLikely benign
Select item 564989	GRCh37/hg19 22q13.31(chr22:46802610-47050585)x3	CELSR1, GRAMD4	Copy number gain	not provided	GLikely benign
Select item 443889	GRCh37/hg19 22q13.31-13.33(chr22:46543160-51197838)x1	ACR, ADM2 +44 more	Copy number loss	See cases	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 442861	GRCh37/hg19 22q13.31-13.32(chr22:46406694-48524541)x1	MIRLET7A3, CDPF1 +11 more	Copy number loss	See cases	GUncertain significance
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 442454	GRCh37/hg19 22q13.31(chr22:46977196-48257296)x1	CERK, GRAMD4 +1 more	Copy number loss	See cases	GLikely benign
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

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