ClinVar for Gene (Select 129138) - ClinVar

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Links from Gene

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3126899	NM_138797.4(ANKRD54):c.779G>A (p.Arg260His)	ANKRD54 (R260H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126898	NM_138797.4(ANKRD54):c.571G>A (p.Val191Ile)	ANKRD54 (V191I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126897	NM_138797.4(ANKRD54):c.262G>A (p.Ala88Thr)	ANKRD54, LOC130067394 (A88T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2611601	NM_138797.4(ANKRD54):c.127G>A (p.Gly43Arg)	ANKRD54, LOC130067394 (G43R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2531336	NM_138797.4(ANKRD54):c.118G>A (p.Ala40Thr)	ANKRD54, LOC130067394 (A40T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2495344	NM_138797.4(ANKRD54):c.698C>T (p.Ala233Val)	ANKRD54 (A113V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478853	NM_138797.4(ANKRD54):c.400G>A (p.Ala134Thr)	ANKRD54 (A134T +2 more)	Single nucleotide variant (missense variant +1 more)	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	APOL2, APOL3 +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2410149	NM_138797.4(ANKRD54):c.751C>T (p.Arg251Cys)	ANKRD54 (R131C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405660	NM_138797.4(ANKRD54):c.185A>C (p.Gln62Pro)	ANKRD54, LOC130067394 (Q62P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2363895	NM_138797.4(ANKRD54):c.704G>A (p.Arg235His)	ANKRD54 (R170H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339708	NM_138797.4(ANKRD54):c.640C>T (p.His214Tyr)	ANKRD54 (H214Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267272	NM_138797.4(ANKRD54):c.515G>A (p.Arg172Gln)	ANKRD54 (R172Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248260	NM_138797.4(ANKRD54):c.473T>C (p.Ile158Thr)	ANKRD54 (I158T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246269	NM_138797.4(ANKRD54):c.259C>A (p.Pro87Thr)	ANKRD54, LOC130067394 (P87T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2231655	NM_138797.4(ANKRD54):c.323T>G (p.Val108Gly)	ANKRD54, LOC130067394 (V108G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2229632	NM_138797.4(ANKRD54):c.302T>G (p.Leu101Arg)	ANKRD54, LOC130067394 (L101R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2229461	NM_138797.4(ANKRD54):c.350C>T (p.Ser117Leu)	ANKRD54 (S117L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2211055	NM_138797.4(ANKRD54):c.778C>T (p.Arg260Cys)	ANKRD54 (R140C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 778948	NM_138797.4(ANKRD54):c.487C>T (p.Leu163=)	ANKRD54	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 545010	GRCh38/hg38 22q13.1(chr22:37805546-37983784)x1	ANKRD54, C22orf23 +17 more	Copy number loss	Waardenburg syndrome type 4C	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
Select item 153362	GRCh38/hg38 22q13.1(chr22:37447222-39103680)x1	ANKRD54, APOBEC3A +177 more	Copy number loss	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 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	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 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	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 57629	GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1	ANKRD54, APOL1 +293 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 45