ClinVar for Gene (Select 55020) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3329893	NM_017931.4(TTC38):c.411C>G (p.Asp137Glu)	TTC38 (D137E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329892	NM_017931.4(TTC38):c.1286G>A (p.Cys429Tyr)	TTC38 (C429Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329891	NM_017931.4(TTC38):c.673G>A (p.Glu225Lys)	TTC38 (E225K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248117	NC_000022.10:g.(?_45958792)_(46971995_?)del	GTSE1, MIRLET7A3 +11 more	Deletion	not provided	GPathogenic
Select item 3184345	NM_017931.4(TTC38):c.632C>T (p.Pro211Leu)	TTC38 (P211L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184344	NM_017931.4(TTC38):c.311C>T (p.Pro104Leu)	TTC38 (P104L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184343	NM_017931.4(TTC38):c.25G>T (p.Asp9Tyr)	LOC130067712, TTC38 (D9Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184342	NM_017931.4(TTC38):c.205G>A (p.Ala69Thr)	TTC38 (A69T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184341	NM_017931.4(TTC38):c.1351A>T (p.Asn451Tyr)	TTC38 (N451Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184339	NM_017931.4(TTC38):c.1282A>C (p.Asn428His)	TTC38 (N428H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184338	NM_017931.4(TTC38):c.1178G>A (p.Arg393His)	TTC38 (R393H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184337	NM_017931.4(TTC38):c.1142A>G (p.Gln381Arg)	TTC38 (Q381R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184336	NM_017931.4(TTC38):c.1070G>A (p.Arg357Gln)	TTC38 (R357Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2653303	NM_017931.4(TTC38):c.1210C>T (p.Arg404Trp)	TTC38 (R404W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2653302	NM_017931.4(TTC38):c.799G>A (p.Glu267Lys)	TTC38 (E267K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2608863	NM_017931.4(TTC38):c.172A>G (p.Lys58Glu)	TTC38 (K58E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595479	NM_017931.4(TTC38):c.1180G>A (p.Val394Ile)	TTC38 (V394I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589884	NM_017931.4(TTC38):c.44A>G (p.Asp15Gly)	TTC38 (D15G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588136	NM_017931.4(TTC38):c.106A>G (p.Thr36Ala)	TTC38 (T36A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543504	NM_017931.4(TTC38):c.349G>A (p.Glu117Lys)	TTC38 (E117K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537977	NM_017931.4(TTC38):c.1221G>C (p.Gln407His)	TTC38 (Q407H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520956	NM_017931.4(TTC38):c.151G>A (p.Glu51Lys)	TTC38 (E51K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513153	NM_017931.4(TTC38):c.536G>A (p.Ser179Asn)	TTC38 (S179N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509413	NM_017931.4(TTC38):c.1069C>T (p.Arg357Trp)	TTC38 (R357W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482582	NM_017931.4(TTC38):c.836T>C (p.Ile279Thr)	TTC38 (I279T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480426	NM_017931.4(TTC38):c.1315C>T (p.Arg439Trp)	TTC38 (R439W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472158	NM_017931.4(TTC38):c.247G>A (p.Val83Met)	TTC38 (V83M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464882	NM_017931.4(TTC38):c.464T>G (p.Leu155Arg)	TTC38 (L155R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460733	NM_017931.4(TTC38):c.337G>A (p.Val113Met)	TTC38 (V113M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398663	NM_017931.4(TTC38):c.788T>C (p.Ile263Thr)	TTC38 (I263T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386281	NM_017931.4(TTC38):c.1378C>T (p.Arg460Cys)	TTC38 (R460C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382144	NM_017931.4(TTC38):c.236C>T (p.Thr79Ile)	TTC38 (T79I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359923	NM_017931.4(TTC38):c.1297G>A (p.Val433Ile)	TTC38 (V433I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354464	NM_017931.4(TTC38):c.1256A>G (p.Asn419Ser)	TTC38 (N419S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350373	NM_017931.4(TTC38):c.901C>T (p.Arg301Cys)	TTC38 (R301C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349054	NM_017931.4(TTC38):c.1118G>A (p.Arg373Gln)	TTC38 (R373Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315606	NM_017931.4(TTC38):c.815T>G (p.Leu272Arg)	TTC38 (L272R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312406	NM_017931.4(TTC38):c.751G>A (p.Ala251Thr)	TTC38 (A251T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307223	NM_017931.4(TTC38):c.797G>T (p.Gly266Val)	TTC38 (G266V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306261	NM_017931.4(TTC38):c.639C>G (p.Asp213Glu)	TTC38 (D213E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295921	NM_017931.4(TTC38):c.962G>A (p.Arg321Gln)	TTC38 (R321Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2258804	NM_017931.4(TTC38):c.737A>G (p.Asp246Gly)	TTC38 (D246G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258639	NM_017931.4(TTC38):c.647C>T (p.Ser216Leu)	TTC38 (S216L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222442	NM_017931.4(TTC38):c.625A>G (p.Ile209Val)	TTC38 (I209V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214717	NM_017931.4(TTC38):c.634A>G (p.Thr212Ala)	TTC38 (T212A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211597	NM_017931.4(TTC38):c.74A>G (p.Asn25Ser)	TTC38 (N25S)	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 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 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 929345	GRCh37/hg19 22q13.31(chr22:46421842-46964908)x1	CDPF1, CELSR1 +8 more	Copy number loss	See cases	GLikely pathogenic
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 688513	GRCh37/hg19 22q13.31-13.33(chr22:46432744-51197838)x3	ACR, ADM2 +47 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 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 443889	GRCh37/hg19 22q13.31-13.33(chr22:46543160-51197838)x1	ACR, ADM2 +44 more	Copy number loss	See cases	GPathogenic
Select item 443582	GRCh37/hg19 22q13.31(chr22:46189128-46998144)x3	ATXN10, CDPF1 +10 more	Copy number gain	See cases	GUncertain significance
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 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 253336	GRCh37/hg19 22q13.31-13.33(chr22:46316673-50357320)x1	BRD1, TTC38 +18 more	Copy number loss	See cases	GLikely pathogenic

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