LOC126860368[gene] - ClinVar

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Search results

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC130000015, LOC130000016 +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	DEFA1B, DEFA3 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	LOC110121192, LOC110121196 +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	AARD, ABRA +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	LOC130000067, LOC130000068 +3656 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	LOC130000263, LOC130000264 +935 more	Copy number gain	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	ADAM18, ADAM2 +932 more	Copy number gain	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	ADAM18, ADAM2 +868 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	LOC130000231, LOC130000232 +927 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC126860340, LOC126860341 +927 more	Copy number gain	See cases	GPathogenic
Select item 34276	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC130000005, LOC130000006 +868 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC130000093, LOC130000094 +927 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +920 more	Copy number gain	See cases	GPathogenic
Select item 57410	GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	LOC129999968, LOC129999969 +855 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC130000066, LOC130000067 +920 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	TNFRSF10A, TNFRSF10A-DT +920 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	ADAM18, ADAM2 +898 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	GPAT4, GPAT4-AS1 +3106 more	Copy number gain	See cases	GPathogenic
Select item 57237	GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3	ADAM18, ADAM2 +591 more	Copy number gain	See cases	GPathogenic
Select item 57312	GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3	LOC126860374, LOC126860375 +417 more	Copy number gain	See cases	GPathogenic
Select item 57114	GRCh38/hg38 8p12-11.21(chr8:34312250-43158901)x1	ADAM18, ADAM2 +276 more	Copy number loss	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	LOC130000227, LOC130000228 +541 more	Copy number gain	See cases	GPathogenic
Select item 59782	GRCh38/hg38 8p11.23-11.21(chr8:37899430-42371734)x3	ADAM18, ADAM2 +180 more	Copy number gain	See cases	GPathogenic
Select item 59783	GRCh38/hg38 8p11.22-q11.21(chr8:39830633-49209461)x3	ADAM2, ANK1 +184 more	Copy number gain	See cases	GPathogenic
Select item 154596	GRCh38/hg38 8p11.21-11.1(chr8:39960531-43673207)x3	ANK1, AP3M2 +122 more	Copy number gain	See cases	GPathogenic
Select item 59784	GRCh38/hg38 8p11.21-11.1(chr8:39981424-43532444)x3	LOC130000302, LOC130000303 +121 more	Copy number gain	See cases	GPathogenic
Select item 1274226	NM_000037.4(ANK1):c.4537+321T>C	ANK1, LOC126860368	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2433628	NM_000037.4(ANK1):c.4529del (p.Gln1510fs)	ANK1, LOC126860368 (Q1510fs +1 more)	Deletion (frameshift variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 362990	NM_000037.4(ANK1):c.4524C>T (p.Pro1508=)	ANK1, LOC126860368	Single nucleotide variant (synonymous variant)	Spherocytosis +1 more	GUncertain significance
Select item 2633701	NM_000037.4(ANK1):c.4520C>A (p.Ser1507Ter)	ANK1, LOC126860368 (S1507* +1 more)	Single nucleotide variant (nonsense)	ANK1-related condition	GPathogenic
Select item 261312	NM_000037.4(ANK1):c.4506C>T (p.Arg1502=)	ANK1, LOC126860368	Single nucleotide variant (synonymous variant)	Spherocytosis +3 more	GBenign/Likely benign
Select item 2683009	NM_000037.4(ANK1):c.4505G>A (p.Arg1502His)	ANK1, LOC126860368 (R1502H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1950005	NM_000037.4(ANK1):c.4501G>C (p.Asp1501His)	ANK1, LOC126860368 (D1501H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 362991	NM_000037.4(ANK1):c.4497C>T (p.His1499=)	ANK1, LOC126860368	Single nucleotide variant (synonymous variant)	Spherocytosis +1 more	GUncertain significance
Select item 2690530	NM_000037.4(ANK1):c.4492_4493del (p.Arg1498fs)	ANK1, LOC126860368 (R1498fs +1 more)	Deletion (frameshift variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 2688550	NM_000037.4(ANK1):c.4492C>T (p.Arg1498Trp)	ANK1, LOC126860368 (R1498W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 782035	NM_000037.4(ANK1):c.4491G>A (p.Arg1497=)	ANK1, LOC126860368	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1163880	NM_000037.4(ANK1):c.4472G>A (p.Arg1491His)	ANK1, LOC126860368 (R1491H +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1 +1 more	GUncertain significance
Select item 1299407	NM_000037.4(ANK1):c.4465C>T (p.Gln1489Ter)	ANK1, LOC126860368 (Q1489* +1 more)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 1 +1 more	GPathogenic/Likely pathogenic
Select item 544802	NM_000037.4(ANK1):c.4462C>T (p.Arg1488Ter)	ANK1, LOC126860368 (R1488* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1987154	NM_000037.4(ANK1):c.4461C>T (p.Gly1487=)	ANK1, LOC126860368	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636909	NM_000037.4(ANK1):c.4459G>A (p.Gly1487Ser)	ANK1, LOC126860368 (G1487S +1 more)	Single nucleotide variant (missense variant)	ANK1-related condition +1 more	GUncertain significance
Select item 2022540	NM_000037.4(ANK1):c.4458C>G (p.Ser1486=)	ANK1, LOC126860368	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1013028	NM_000037.4(ANK1):c.4458C>T (p.Ser1486=)	ANK1, LOC126860368	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 747995	NM_000037.4(ANK1):c.4448T>G (p.Leu1483Arg)	ANK1, LOC126860368 (L1524R +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1 +1 more	GConflicting classifications of pathogenicity
Select item 1314609	NM_000037.4(ANK1):c.4447C>A (p.Leu1483Met)	ANK1, LOC126860368 (L1483M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1339200	NM_000037.4(ANK1):c.4444A>G (p.Met1482Val)	ANK1, LOC126860368 (M1482V +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1	GUncertain significance
Select item 2555772	NM_000037.4(ANK1):c.4439T>C (p.Val1480Ala)	ANK1, LOC126860368 (V1480A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2439070	NM_000037.4(ANK1):c.4427G>T (p.Arg1476Leu)	ANK1, LOC126860368 (R1476L +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 1	GUncertain significance
Select item 1309252	NM_000037.4(ANK1):c.4421T>C (p.Ile1474Thr)	ANK1, LOC126860368 (I1474T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1393753	NM_000037.4(ANK1):c.4414C>T (p.Gln1472Ter)	ANK1, LOC126860368 (Q1513* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2690525	NM_000037.4(ANK1):c.4391-1G>C	ANK1, LOC126860368	Single nucleotide variant (splice acceptor variant)	Hereditary spherocytosis type 1	GLikely pathogenic
Select item 2921128	NM_000037.4(ANK1):c.4391-18T>C	ANK1, LOC126860368	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 1	GLikely benign
Select item 1282110	NM_000037.4(ANK1):c.4391-49C>T	ANK1, LOC126860368	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 54