966[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154432	GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1	ABTB2, ANO3 +283 more	Copy number loss	See cases	GPathogenic
Select item 58858	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	PAX6_HS3, PAX6_HS8 +334 more	Copy number loss	See cases	GPathogenic
Select item 145969	GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1	LOC129390275, LOC129390276 +255 more	Copy number loss	See cases	GPathogenic
Select item 1943798	NM_000611.6(CD59):c.384C>A (p.Pro128=)	CD59	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1046649	NM_000611.6(CD59):c.382C>T (p.Pro128Ser)	CD59 (P128S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970441	NM_000611.6(CD59):c.366A>C (p.Ala122=)	CD59	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2159226	NM_000611.6(CD59):c.361G>T (p.Ala121Ser)	CD59 (A121S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1400491	NM_000611.6(CD59):c.360G>A (p.Leu120=)	CD59	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2173580	NM_000611.6(CD59):c.336TCT[1] (p.Leu115del)	CD59 (L115del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2979265	NM_000611.6(CD59):c.333A>G (p.Thr111=)	CD59	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2110523	NM_000611.6(CD59):c.328A>C (p.Lys110Gln)	CD59 (K110Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2904017	NM_000611.6(CD59):c.319T>C (p.Leu107=)	CD59	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2844243	NM_000611.6(CD59):c.318C>G (p.Ser106=)	CD59	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1163337	NM_000611.6(CD59):c.313A>C (p.Thr105Pro)	CD59 (T105P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1999350	NM_000611.6(CD59):c.302A>C (p.Glu101Ala)	CD59 (E101A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1497393	NM_000611.6(CD59):c.301G>A (p.Glu101Lys)	CD59 (E101K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1490138	NM_000611.6(CD59):c.299T>G (p.Leu100Arg)	CD59 (L100R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1482320	NM_000611.6(CD59):c.298C>T (p.Leu100Phe)	CD59 (L100F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2585022	NM_000611.6(CD59):c.286_295del (p.Phe96fs)	CD59 (F96fs)	Deletion (frameshift variant)	Primary CD59 deficiency	GUncertain significance
Select item 1928026	NM_000611.6(CD59):c.292G>C (p.Glu98Gln)	CD59 (E98Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1666359	NM_000611.6(CD59):c.291C>T (p.Asn97=)	CD59	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011183	NM_000611.6(CD59):c.288T>C (p.Phe96=)	CD59	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1354058	NM_000611.6(CD59):c.288T>G (p.Phe96Leu)	CD59 (F96L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251394	NM_000611.6(CD59):c.285del (p.Phe96fs)	CD59 (F96fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 2959797	NM_000611.6(CD59):c.267C>T (p.Cys89=)	CD59	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 64690	NM_000611.6(CD59):c.266G>A (p.Cys89Tyr)	CD59 (C89Y)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2856963	NM_000611.6(CD59):c.261C>T (p.Tyr87=)	CD59	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877442	NM_000611.6(CD59):c.255G>T (p.Thr85=)	CD59	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1622585	NM_000611.6(CD59):c.255G>A (p.Thr85=)	CD59	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2057550	NM_000611.6(CD59):c.254C>T (p.Thr85Met)	CD59 (T85M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2862695	NM_000611.6(CD59):c.252A>G (p.Leu84=)	CD59	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1040668	NM_000611.6(CD59):c.251T>A (p.Leu84Gln)	CD59 (L84Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2830558	NM_000611.6(CD59):c.250C>T (p.Leu84=)	CD59	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2766804	NM_000611.6(CD59):c.235T>C (p.Leu79=)	CD59	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1026000	NM_000611.6(CD59):c.233G>C (p.Arg78Pro)	CD59 (R78P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163338	NM_000611.6(CD59):c.232C>T (p.Arg78Cys)	CD59 (R78C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2866244	NM_000611.6(CD59):c.231C>T (p.Thr77=)	CD59	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2413718	NM_000611.6(CD59):c.223G>A (p.Val75Ile)	CD59 (V75I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 719498	NM_000611.6(CD59):c.222C>T (p.Asp74=)	CD59	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1659924	NM_000611.6(CD59):c.219C>T (p.Asn73=)	CD59	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1663592	NM_000611.6(CD59):c.198G>A (p.Lys66=)	CD59	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 522723	NM_000611.6(CD59):c.190T>G (p.Cys64Gly)	CD59 (C64G)	Single nucleotide variant (missense variant)	Primary CD59 deficiency	GUncertain significance
Select item 3010729	NM_000611.6(CD59):c.189G>A (p.Lys63=)	CD59	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3027278	NM_000611.6(CD59):c.183_184dup (p.Asn62fs)	CD59 (N62fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 2790850	NM_000611.6(CD59):c.180G>A (p.Val60=)	CD59	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1954834	NM_000611.6(CD59):c.171G>T (p.Gly57=)	CD59	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1661234	NM_000611.6(CD59):c.171G>A (p.Gly57=)	CD59	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1579277	NM_000611.6(CD59):c.170-4A>G	CD59	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978407	NM_000611.6(CD59):c.170-5C>T	CD59	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1641608	NM_000611.6(CD59):c.170-13T>C	CD59	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2761771	NM_000611.6(CD59):c.170-18G>A	CD59	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2761846	NM_000611.6(CD59):c.170-19T>C	CD59	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2106998	NM_000611.6(CD59):c.169+20_169+23del	CD59	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2960491	NM_000611.6(CD59):c.169+15del	CD59	Deletion (intron variant)	not provided	GLikely benign
Select item 2786700	NM_000611.6(CD59):c.169+14_169+15del	CD59	Deletion (intron variant)	not provided	GLikely benign
Select item 2798530	NM_000611.6(CD59):c.169+13C>T	CD59	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011349	NM_000611.6(CD59):c.169+9del	CD59	Deletion (intron variant)	not provided	GLikely benign
Select item 2763258	NM_000611.6(CD59):c.169+8C>A	CD59	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2750919	NM_000611.6(CD59):c.165A>G (p.Lys55=)	CD59	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1920597	NM_000611.6(CD59):c.156C>T (p.Leu52=)	CD59	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877792	NM_000611.6(CD59):c.153T>C (p.Cys51=)	CD59	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 789039	NM_000611.6(CD59):c.150G>A (p.Ala50=)	CD59	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1399706	NM_000611.6(CD59):c.149C>T (p.Ala50Val)	CD59 (A50V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 100766	NM_000611.6(CD59):c.146del (p.Asp49fs)	CD59 (D49fs)	Deletion (frameshift variant)	Primary CD59 deficiency	GPathogenic
Select item 2907544	NM_000611.6(CD59):c.129T>C (p.Asn43=)	CD59	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2522438	NM_000611.6(CD59):c.128A>G (p.Asn43Ser)	CD59 (N43S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 733610	NM_000611.6(CD59):c.126C>G (p.Val42=)	CD59	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1489261	NM_000611.6(CD59):c.124G>A (p.Val42Ile)	CD59 (V42I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1149670	NM_000611.6(CD59):c.123C>T (p.Ala41=)	CD59	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 18052	NM_000611.6(CD59):c.123del (p.Val42fs)	CD59 (V42fs)	Deletion (frameshift variant)	Primary CD59 deficiency	GPathogenic
Select item 2811866	NM_000611.6(CD59):c.120A>T (p.Thr40=)	CD59	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1533023	NM_000611.6(CD59):c.99C>T (p.Asn33=)	CD59	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1461375	NM_000611.6(CD59):c.98A>C (p.Asn33Thr)	CD59 (N33T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2635967	NM_000611.6(CD59):c.89A>G (p.Asn30Ser)	CD59 (N30S)	Single nucleotide variant (missense variant)	CD59-related disorder	GUncertain significance
Select item 634643	NM_000611.6(CD59):c.85T>G (p.Tyr29Asp)	CD59 (Y29D)	Single nucleotide variant (missense variant)	Primary CD59 deficiency	GUncertain significance
Select item 1685256	NM_000611.6(CD59):c.83G>A (p.Cys28Tyr)	CD59 (C28Y)	Single nucleotide variant (missense variant)	Primary CD59 deficiency	GLikely pathogenic
Select item 734058	NM_000611.6(CD59):c.72T>C (p.His24=)	CD59	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3031253	NM_000611.6(CD59):c.71A>G (p.His24Arg)	CD59 (H24R)	Single nucleotide variant (missense variant)	CD59-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2967328	NM_000611.6(CD59):c.68-11C>A	CD59	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1629592	NM_000611.6(CD59):c.68-11C>T	CD59	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2865734	NM_000611.6(CD59):c.68-15del	CD59	Deletion (intron variant)	not provided	GLikely benign
Select item 2773271	NM_000611.6(CD59):c.68-19A>G	CD59	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2835848	NM_000611.6(CD59):c.67+9T>C	CD59	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 737474	NM_000611.6(CD59):c.54C>T (p.Val18=)	CD59	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1361110	NM_000611.6(CD59):c.53T>G (p.Val18Gly)	CD59 (V18G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1404258	NM_000611.6(CD59):c.52G>A (p.Val18Ile)	CD59 (V18I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1943598	NM_000611.6(CD59):c.51T>C (p.Ala17=)	CD59	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2919329	NM_000611.6(CD59):c.46C>T (p.Leu16=)	CD59	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1163339	NM_000611.6(CD59):c.43G>A (p.Val15Ile)	CD59 (V15I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2889002	NM_000611.6(CD59):c.42C>T (p.Leu14=)	CD59	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977416	NM_000611.6(CD59):c.37C>T (p.Leu13=)	CD59	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2827178	NM_000611.6(CD59):c.33G>C (p.Gly11=)	CD59	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1944714	NM_000611.6(CD59):c.31G>A (p.Gly11Arg)	CD59 (G11R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1144752	NM_000611.6(CD59):c.30C>T (p.Phe10=)	CD59	Single nucleotide variant (synonymous variant)	CD59-related disorder +1 more	GLikely benign
Select item 1976265	NM_000611.6(CD59):c.23T>C (p.Val8Ala)	CD59 (V8A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2799145	NM_000611.6(CD59):c.18G>T (p.Gly6=)	CD59	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 774691	NM_000611.6(CD59):c.18G>A (p.Gly6=)	CD59	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1972055	NM_000611.6(CD59):c.1A>G (p.Met1Val)	CD59 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1807696	GRCh37/hg19 11p13-12(chr11:31372721-38259316)x1	ABTB2, APIP +40 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic

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