GCAT[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57629	GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1	ANKRD54, APOL1 +293 more	Copy number loss	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 153362	GRCh38/hg38 22q13.1(chr22:37447222-39103680)x1	ANKRD54, APOBEC3A +177 more	Copy number loss	See cases	GPathogenic
Select item 57632	GRCh38/hg38 22q13.1(chr22:37721777-38886664)x1	ANKRD54, BAIAP2L2 +122 more	Copy number loss	See cases	GPathogenic
Select item 57943	GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3	LOC130067459, LOC130067460 +273 more	Copy number gain	See cases	GPathogenic
Select item 545010	GRCh38/hg38 22q13.1(chr22:37805546-37983784)x1	ANKRD54, C22orf23 +17 more	Copy number loss	Waardenburg syndrome type 4C	GPathogenic
Select item 2332939	NM_014291.4(GCAT):c.7C>T (p.Pro3Ser)	GCAT, LOC130067392 (P3S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215443	NM_014291.4(GCAT):c.8C>T (p.Pro3Leu)	GCAT, LOC130067392 (P3L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098966	NM_014291.4(GCAT):c.179T>C (p.Val60Ala)	GCAT (V60A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098967	NM_014291.4(GCAT):c.194G>A (p.Gly65Glu)	GCAT (G65E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569624	NM_014291.4(GCAT):c.197-66T>C	GCAT (V70A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559777	NM_014291.4(GCAT):c.197-44G>T	GCAT (L77F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552306	NM_014291.4(GCAT):c.197-21A>T	GCAT (H85L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3280977	NM_014291.4(GCAT):c.197-10T>C	GCAT (F89L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098969	NM_014291.4(GCAT):c.200T>G (p.Ile67Ser)	GCAT (I93S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280975	NM_014291.4(GCAT):c.270G>C (p.Gln90His)	GCAT (Q90H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098970	NM_014291.4(GCAT):c.283T>A (p.Phe95Ile)	GCAT (F121I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608570	NM_014291.4(GCAT):c.284T>C (p.Phe95Ser)	GCAT (F95S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280976	NM_014291.4(GCAT):c.400T>G (p.Cys134Gly)	GCAT (C160G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269960	NM_014291.4(GCAT):c.401G>T (p.Cys134Phe)	GCAT (C134F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098971	NM_014291.4(GCAT):c.475C>T (p.His159Tyr)	GCAT (H159Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588389	NM_014291.4(GCAT):c.499C>T (p.Arg167Trp)	GCAT (R167W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098972	NM_014291.4(GCAT):c.500G>A (p.Arg167Gln)	GCAT (R193Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265485	NM_014291.4(GCAT):c.514C>T (p.His172Tyr)	GCAT (H172Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280974	NM_014291.4(GCAT):c.523C>T (p.Arg175Cys)	GCAT (R175C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601599	NM_014291.4(GCAT):c.524G>T (p.Arg175Leu)	GCAT (R201L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335589	NM_014291.4(GCAT):c.538G>A (p.Asp180Asn)	GCAT (D180N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223163	NM_014291.4(GCAT):c.543G>A (p.Met181Ile)	GCAT (M181I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098973	NM_014291.4(GCAT):c.547G>A (p.Asp183Asn)	GCAT (D183N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513321	NM_014291.4(GCAT):c.633C>G (p.Ile211Met)	GCAT (I211M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204457	NM_014291.4(GCAT):c.704C>A (p.Ala235Asp)	GCAT (A261D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098974	NM_014291.4(GCAT):c.712T>A (p.Phe238Ile)	GCAT (F238I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098975	NM_014291.4(GCAT):c.767T>C (p.Val256Ala)	GCAT (V256A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098976	NM_014291.4(GCAT):c.779A>C (p.Asn260Thr)	GCAT (N286T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098977	NM_014291.4(GCAT):c.790G>T (p.Gly264Trp)	GCAT (G264W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520258	NM_014291.4(GCAT):c.817G>T (p.Gly273Cys)	GCAT (G273C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510945	NM_014291.4(GCAT):c.824C>T (p.Thr275Met)	GCAT (T301M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373031	NM_014291.4(GCAT):c.857G>A (p.Arg286Gln)	GCAT (R286Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216378	NM_014291.4(GCAT):c.871C>G (p.Pro291Ala)	GCAT (P317A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483294	NM_014291.4(GCAT):c.902C>G (p.Ala301Gly)	GCAT (A327G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463735	NM_014291.4(GCAT):c.907G>A (p.Val303Ile)	GCAT (V303I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368475	NM_014291.4(GCAT):c.931G>T (p.Asp311Tyr)	GCAT (D337Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098964	NM_014291.4(GCAT):c.959T>G (p.Val320Gly)	GCAT (V320G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236723	NM_014291.4(GCAT):c.1070G>A (p.Arg357Gln)	GCAT (R357Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203897	NM_014291.4(GCAT):c.1082G>A (p.Arg361His)	GCAT (R387H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098965	NM_014291.4(GCAT):c.1107A>T (p.Arg369Ser)	GCAT (R369S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233473	NM_014291.4(GCAT):c.1160G>A (p.Arg387Gln)	GCAT (R387Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610401	NM_014291.4(GCAT):c.1207C>T (p.Arg403Cys)	GCAT (R403C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280973	NM_014291.4(GCAT):c.1238G>A (p.Arg413Gln)	GCAT (R413Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424101	NC_000022.10:g.(?_37154355)_(39148633_?)del	ANKRD54, BAIAP2L2 +50 more	Deletion	Infantile neuroaxonal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 2423540	NC_000022.10:g.(?_38097373)_(39306081_?)del	ANKRD54, BAIAP2L2 +29 more	Deletion	not provided	GPathogenic
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	ACO2, ADSL +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1526736	GRCh37/hg19 22q13.1(chr22:38116341-38369048)	ANKRD54, C22orf23 +9 more	Copy number loss	not specified	GLikely pathogenic
Select item 995941	GRCh37/hg19 22q13.1(chr22:38155164-38541997)	ANKRD54, C22orf23 +13 more	Copy number loss	Waardenburg syndrome type 2E	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 816564	GRCh37/hg19 22q13.1(chr22:38002218-38973070)x1	SH3BP1, CSNK1E +25 more	Copy number loss	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 443342	GRCh37/hg19 22q12.3-13.1(chr22:35674826-39466442)x3	ANKRD54, APOBEC3A +76 more	Copy number gain	See cases	GLikely pathogenic
Select item 442777	GRCh37/hg19 22q13.1(chr22:37866631-39054815)x1	ANKRD54, BAIAP2L2 +31 more	Copy number loss	See cases	GPathogenic
Select item 442145	GRCh37/hg19 22q12.3-13.1(chr22:36877226-38548989)x1	ANKRD54, BAIAP2L2 +41 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 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 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic

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Items: 69