720[geneid] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 153079	GRCh38/hg38 6p21.33(chr6:31971993-32012974)x1	C4A, DXO +3 more	Copy number loss	See cases	GBenign
Select item 150716	GRCh38/hg38 6p21.33(chr6:31980353-32041234)x3	C4A, C4B +7 more	Copy number gain	See cases	GLikely benign
Select item 152997	GRCh38/hg38 6p21.33(chr6:31980422-32041505)x1	C4A, C4B +7 more	Copy number loss	See cases	GBenign
Select item 982124	NM_007293.3(C4A):c.1040C>A (p.Ser347Tyr)	C4A (S347Y)	Single nucleotide variant (no sequence alteration +2 more)	not specified	GBenign
Select item 982125	NM_007293.3(C4A):c.1045+70G>A	C4A	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 982132	NM_007293.3(C4A):c.1524+23C>A	C4A	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2269828	NM_007293.3(C4A):c.2477A>G (p.Gln826Arg)	C4A (Q826R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 591508	NM_007293.3(C4A):c.2539G>T (p.Glu847Ter)	C4A (E847*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2556278	NM_007293.3(C4A):c.2605G>A (p.Val869Met)	C4A (V869M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136001	NM_007293.3(C4A):c.2641G>A (p.Gly881Arg)	C4A (G881R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262511	NM_007293.3(C4A):c.2689G>A (p.Val897Ile)	C4A (V897I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513311	NM_007293.3(C4A):c.2711C>T (p.Thr904Met)	C4A (T904M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390295	NM_007293.3(C4A):c.2722G>A (p.Ala908Thr)	C4A (A908T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332427	NM_007293.3(C4A):c.2741T>G (p.Val914Gly)	C4A (V914G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136002	NM_007293.3(C4A):c.2777C>T (p.Ala926Val)	C4A (A926V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411004	NM_007293.3(C4A):c.2877A>C (p.Glu959Asp)	C4A (E959D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 982133	NM_007293.3(C4A):c.2944+55T>C	C4A	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1029153	NM_007293.3(C4A):c.3059C>T (p.Pro1020Leu)	C4A (P1020L)	Single nucleotide variant (missense variant)	Complement component 4a deficiency	GUncertain significance
Select item 3136003	NM_007293.3(C4A):c.3143T>G (p.Leu1048Arg)	C4A (L1048R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262510	NM_007293.3(C4A):c.3163C>T (p.Arg1055Trp)	C4A (R1055W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592019	NM_007293.3(C4A):c.3185C>T (p.Ala1062Val)	C4A (A1062V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3025907	NM_007293.3(C4A):c.3200C>A (p.Ala1067Glu)	C4A (A1067E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2296833	NM_007293.3(C4A):c.3215G>A (p.Arg1072Gln)	C4A (R1072Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1297710	NM_007293.3(C4A):c.3218A>G (p.Asp1073Gly)	C4A (D1073G)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 3136004	NM_007293.3(C4A):c.3226A>G (p.Thr1076Ala)	C4A (T1076A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321930	NM_007293.3(C4A):c.3269A>G (p.Gln1090Arg)	C4A (Q1090R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 154968	GRCh38/hg38 6p21.33(chr6:31996044-32041234)x3	LOC108004539, LOC110631417 +6 more	Copy number gain	See cases	GLikely benign
Select item 154793	GRCh38/hg38 6p21.33(chr6:31996044-32040430)x1	C4A, C4B +5 more	Copy number loss	See cases	GLikely benign
Select item 154792	GRCh38/hg38 6p21.33(chr6:31996044-32040430)x3	C4A, C4B +5 more	Copy number gain	See cases	GLikely benign
Select item 149713	GRCh38/hg38 6p21.33(chr6:31996044-32040241)x3	C4A, C4B +5 more	Copy number gain	See cases	GLikely benign
Select item 2656434	NM_007293.3(C4A):c.3351C>T (p.Phe1117=)	C4A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1284986	NM_007293.3(C4A):c.3358C>A (p.Pro1120Thr)	C4A (P1120T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2475100	NM_007293.3(C4A):c.3364C>T (p.Pro1122Ser)	C4A (P1122S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 147011	GRCh38/hg38 6p21.33(chr6:31996089-32041483)x1	C4A, C4B +6 more	Copy number loss	See cases	GBenign
Select item 2480051	NM_007293.3(C4A):c.3442G>A (p.Ala1148Thr)	C4A (A1148T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1034372	NM_007293.3(C4A):c.3453T>G (p.His1151Gln)	C4A (H1151Q)	Single nucleotide variant (missense variant)	Complement component 4a deficiency	GUncertain significance
Select item 2320249	NM_007293.3(C4A):c.3500G>C (p.Arg1167Thr)	C4A (R1167T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2656435	NM_007293.3(C4A):c.3505-8T>C	C4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3136005	NM_007293.3(C4A):c.3587C>T (p.Thr1196Met)	C4A (T1196M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559758	NM_007293.3(C4A):c.3614C>T (p.Ala1205Val)	C4A (A1205V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236250	NM_007293.3(C4A):c.3640C>T (p.His1214Tyr)	C4A (H1214Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 17055	NM_007293.3(C4A):c.3694_3695dup (p.Val1233fs)	C4A (V1233fs)	Duplication (frameshift variant)	not provided	GBenign
Select item 2606806	NM_007293.3(C4A):c.3742C>T (p.Arg1248Cys)	C4A (R1248C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489780	NM_007293.3(C4A):c.3775G>A (p.Ala1259Thr)	C4A (A1259T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1175059	NM_007293.3(C4A):c.3856T>G (p.Ser1286Ala)	C4A (S1286A)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2261911	NM_007293.3(C4A):c.4054C>A (p.Arg1352Ser)	C4A (R1352S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 982134	NM_007293.3(C4A):c.4876+50C>T	C4A	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 982135	NM_007293.3(C4A):c.5064G>A (p.Leu1688=)	C4A	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 1527233	GRCh37/hg19 6p21.33-21.32(chr6:31952482-32243155)	AGER, AGPAT1 +13 more	Copy number gain	not specified	GUncertain significance
Select item 814808	GRCh37/hg19 6p21.33-21.32(chr6:31916915-32278000)x3	AGER, AGPAT1 +19 more	Copy number gain	not provided	GUncertain significance
Select item 814807	GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3	ABHD16A, AGER +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 226179	GRCh37/hg19 6p21.33(chr6:31969589-32007227)	CYP21A2, C4A +1 more	Copy number loss	Abnormal esophagus morphology	GBenign

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Items: 57