54205[geneid] - ClinVar

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Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	ABCB5, ACTB +904 more	Copy number gain	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	ABCB5, ACTB +823 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	ABCB5, ACTB +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	KMT2C, KMT2E +4737 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC126859939, LOC126859940 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	LOC129389762, LOC129389763 +1298 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	LOC110120786, LOC110120961 +769 more	Copy number gain	See cases	GPathogenic
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	LOC129998109, LOC129998110 +560 more	Copy number gain	See cases	GPathogenic
Select item 154641	GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1	ABCB5, AGMO +331 more	Copy number loss	See cases	GPathogenic
Select item 59679	GRCh38/hg38 7p21.2-15.2(chr7:16234212-26167278)x3	LOC129998117, LOC129998118 +287 more	Copy number gain	See cases	GPathogenic
Select item 144929	GRCh38/hg38 7p21.1-15.2(chr7:20210912-27849400)x1	ABCB5, CBX3 +281 more	Copy number loss	See cases	GPathogenic
Select item 147609	GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1	LOC129998154, LOC129998155 +387 more	Copy number loss	See cases	GPathogenic
Select item 149206	GRCh38/hg38 7p15.3-15.2(chr7:23765383-26136158)x1	LOC129998102, LOC129998103 +73 more	Copy number loss	See cases	GLikely pathogenic
Select item 359863	NM_018947.6(CYCS):c.*5013T>C	CYCS	Single nucleotide variant (3 prime UTR variant)	Thrombocytopenia	GUncertain significance
Select item 359864	NM_018947.6(CYCS):c.5004_5005del	CYCS	Deletion (3 prime UTR variant)	Thrombocytopenia	GUncertain significance
Select item 359867	NM_018947.6(CYCS):c.4723_4725del	CYCS	Deletion (3 prime UTR variant)	Thrombocytopenia	GLikely benign
Select item 359870	NM_018947.6(CYCS):c.*4524del	CYCS	Deletion (3 prime UTR variant)	Thrombocytopenia	GUncertain significance
Select item 359886	NM_018947.6(CYCS):c.*3610del	CYCS	Deletion (3 prime UTR variant)	Thrombocytopenia	GLikely benign
Select item 359893	NM_018947.6(CYCS):c.*3282del	CYCS	Deletion (3 prime UTR variant)	Thrombocytopenia	GUncertain significance
Select item 359903	NM_018947.6(CYCS):c.2563_2564del	CYCS	Deletion (3 prime UTR variant)	Thrombocytopenia	GUncertain significance
Select item 359919	NM_018947.6(CYCS):c.*1839C>T	CYCS	Single nucleotide variant (3 prime UTR variant)	Thrombocytopenia	GUncertain significance
Select item 359923	NM_018947.6(CYCS):c.1702_1705dup	CYCS	Duplication (3 prime UTR variant)	Thrombocytopenia	GLikely benign
Select item 359925	NM_018947.6(CYCS):c.1676_1678dup	CYCS	Duplication (3 prime UTR variant)	Thrombocytopenia	GUncertain significance
Select item 359924	NM_018947.6(CYCS):c.*1678dup	CYCS	Duplication (3 prime UTR variant)	Thrombocytopenia	GLikely benign
Select item 359926	NM_018947.6(CYCS):c.*1622del	CYCS	Deletion (3 prime UTR variant)	Thrombocytopenia	GUncertain significance
Select item 3728808	NM_018947.6(CYCS):c.317A>G (p.Ter106=)	CYCS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1313680	NM_018947.6(CYCS):c.317A>C (p.Ter106Ser)	CYCS	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 627298	NM_018947.6(CYCS):c.308C>T (p.Thr103Ile)	CYCS (T103I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2754691	NM_018947.6(CYCS):c.302_304del (p.Lys101_Ala102delinsThr)	CYCS	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 599385	NM_018947.6(CYCS):c.301_303del (p.Lys101del)	CYCS (K101del)	Deletion (inframe_deletion)	Thrombocytopenia 4	GPathogenic
Select item 2628903	NM_018947.6(CYCS):c.295C>T (p.Leu99Phe)	CYCS (L99F)	Single nucleotide variant (missense variant)	CYCS-related disorder	GLikely pathogenic
Select item 812966	NM_018947.6(CYCS):c.295C>G (p.Leu99Val)	CYCS (L99V)	Single nucleotide variant (missense variant)	Thrombocytopenia	GLikely pathogenic
Select item 1708125	NM_018947.6(CYCS):c.292T>C (p.Tyr98His)	CYCS (Y98H)	Single nucleotide variant (missense variant)	Thrombocytopenia 4	GUncertain significance
Select item 1703823	NM_018947.6(CYCS):c.290C>A (p.Ala97Asp)	CYCS (A97D)	Single nucleotide variant (missense variant)	Thrombocytopenia 4	GLikely pathogenic
Select item 3655332	NM_018947.6(CYCS):c.289G>A (p.Ala97Thr)	CYCS (A97T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976177	NM_018947.6(CYCS):c.279A>G (p.Ala93=)	CYCS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2004377	NM_018947.6(CYCS):c.268G>A (p.Glu90Lys)	CYCS (E90K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2820708	NM_018947.6(CYCS):c.258_260del (p.Ile86_Lys87delinsMet)	CYCS	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 2886603	NM_018947.6(CYCS):c.252C>T (p.Val84=)	CYCS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967237	NM_018947.6(CYCS):c.249T>C (p.Phe83=)	CYCS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3651878	NM_018947.6(CYCS):c.222G>A (p.Lys74=)	CYCS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3347473	NM_018947.6(CYCS):c.219G>T (p.Lys73Asn)	CYCS (K73N)	Single nucleotide variant (missense variant)	CYCS-related disorder	GUncertain significance
Select item 2793470	NM_018947.6(CYCS):c.216C>T (p.Pro72=)	CYCS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2418265	NM_018947.6(CYCS):c.204T>C (p.Tyr68=)	CYCS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2064953	NM_018947.6(CYCS):c.177C>T (p.Ile59=)	CYCS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2916203	NM_018947.6(CYCS):c.172A>G (p.Ile58Val)	CYCS (I58V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1032049	NM_018947.6(CYCS):c.170-3T>C	CYCS	Single nucleotide variant (intron variant)	Thrombocytopenia 4	GUncertain significance
Select item 2726133	NM_018947.6(CYCS):c.170-6G>C	CYCS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011674	NM_018947.6(CYCS):c.170-16A>G	CYCS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2797582	NM_018947.6(CYCS):c.169+7G>A	CYCS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2807086	NM_018947.6(CYCS):c.164A>G (p.Asn55Ser)	CYCS (N55S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2701206	NM_018947.6(CYCS):c.158A>G (p.Asn53Ser)	CYCS (N53S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 988874	NM_018947.6(CYCS):c.155C>T (p.Ala52Val)	CYCS (A52V)	Single nucleotide variant (missense variant)	Abnormal bleeding +1 more	GLikely pathogenic
Select item 810076	NM_018947.6(CYCS):c.154G>A (p.Ala52Thr)	CYCS (A52T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3610550	NM_018947.6(CYCS):c.153C>T (p.Ala51=)	CYCS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3649582	NM_018947.6(CYCS):c.152C>G (p.Ala51Gly)	CYCS (A51G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 359938	NM_018947.6(CYCS):c.147C>T (p.Tyr49=)	CYCS	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 180656	NM_018947.6(CYCS):c.145T>C (p.Tyr49His)	CYCS (Y49H)	Single nucleotide variant (missense variant)	Thrombocytopenia 4	GPathogenic
Select item 1941675	NM_018947.6(CYCS):c.142T>C (p.Ser48Pro)	CYCS (S48P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 16917	NM_018947.6(CYCS):c.124G>A (p.Gly42Ser)	CYCS (G42S)	Single nucleotide variant (missense variant)	Thrombocytopenia +1 more	GLikely pathogenic
Select item 1975348	NM_018947.6(CYCS):c.108C>G (p.Leu36=)	CYCS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1676752	NM_018947.6(CYCS):c.97C>G (p.Leu33Val)	CYCS (L33V)	Single nucleotide variant (missense variant)	Thrombocytopenia 4 +1 more	GUncertain significance
Select item 1684430	NM_018947.6(CYCS):c.94A>C (p.Asn32His)	CYCS (N32H)	Single nucleotide variant (missense variant)	Thrombocytopenia 4	GUncertain significance
Select item 1210164	NM_018947.6(CYCS):c.79C>T (p.His27Tyr)	CYCS (H27Y)	Single nucleotide variant (missense variant)	Thrombocytopenia 4 +1 more	GPathogenic/Likely pathogenic
Select item 2416311	NM_018947.6(CYCS):c.75C>G (p.Gly25=)	CYCS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1684432	NM_018947.6(CYCS):c.62T>G (p.Val21Gly)	CYCS (V21G)	Single nucleotide variant (missense variant)	Thrombocytopenia 4	GUncertain significance
Select item 1684433	NM_018947.6(CYCS):c.59C>T (p.Thr20Ile)	CYCS (T20I)	Single nucleotide variant (missense variant)	Thrombocytopenia 4	GUncertain significance
Select item 2085933	NM_018947.6(CYCS):c.39G>C (p.Met13Ile)	CYCS (M13I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1373408	NM_018947.6(CYCS):c.39G>T (p.Met13Ile)	CYCS (M13I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2758295	NM_018947.6(CYCS):c.28A>G (p.Ile10Val)	CYCS (I10V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3638866	NM_018947.6(CYCS):c.18A>G (p.Lys6=)	CYCS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2827312	NM_018947.6(CYCS):c.7G>T (p.Asp3Tyr)	CYCS (D3Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 261063	NM_018947.6(CYCS):c.-6T>G	CYCS	Single nucleotide variant (5 prime UTR variant)	Thrombocytopenia 4 +2 more	GBenign
Select item 3245921	NC_000007.13:g.(?_24323410)_(25163738_?)dup	CYCS, GSDME +3 more	Duplication	not provided	GUncertain significance
Select item 3062983	GRCh37/hg19 7p21.1-14.3(chr7:17736012-30663423)x1	ABCB5, CBX3 +75 more	Copy number loss	not specified	GPathogenic
Select item 3062961	GRCh37/hg19 7p21.3-15.2(chr7:13107394-27514163)x1	ABCB5, AGMO +71 more	Copy number loss	not specified	GPathogenic
Select item 2425103	NC_000007.13:g.(?_24738645)_(25163738_?)dup	CYCS, GSDME +1 more	Duplication	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AP1S1, AP4M1 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	ASB15, ASB4 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527336	GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167)	ABCB5, ADCYAP1R1 +117 more	Copy number gain	not specified	GLikely pathogenic
Select item 814947	GRCh37/hg19 7p15.3-14.3(chr7:23877135-33139446)x1	AVL9, ADCYAP1R1 +61 more	Copy number loss	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	not provided	GPathogenic
Select item 599189	NC_000007.13:g.23236782_30690453del7453672	LINC02860, MALSU1 +53 more	Deletion	Silver Russell Syndrome-related disorder	GPathogenic
Select item 443815	GRCh37/hg19 7p15.3-14.3(chr7:24344104-28879357)x1	CBX3, CREB5 +31 more	Copy number loss	See cases	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MALSU1, MATCAP2 +896 more	Copy number gain	See cases	GPathogenic
Select item 442824	GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3	ABCB5, ACTB +158 more	Copy number gain	See cases	GPathogenic
Select item 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	ABCA13, ABCB5 +196 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	ABCB1, AASS +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395204	GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3	ABCB5, ADCYAP1R1 +119 more	Copy number gain	See cases	GPathogenic
Select item 253643	GRCh37/hg19 7p15.3-14.3(chr7:22935369-32621975)x1	ADCYAP1R1, AQP1 +68 more	Copy number loss	See cases	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ADAM22, BBS9 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 92