ClinVar for Gene (Select 27128) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3270738	NM_013385.5(CYTH4):c.437A>T (p.Gln146Leu)	CYTH4 (Q89L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270737	NM_013385.5(CYTH4):c.277G>A (p.Val93Ile)	CYTH4 (V36I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3079824	NM_013385.5(CYTH4):c.962G>A (p.Cys321Tyr)	CYTH4, LOC126863142 (C264Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079823	NM_013385.5(CYTH4):c.695G>A (p.Arg232Gln)	CYTH4 (R232Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079822	NM_013385.5(CYTH4):c.302A>G (p.Tyr101Cys)	CYTH4 (Y101C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079821	NM_013385.5(CYTH4):c.1127G>A (p.Arg376His)	CYTH4 (R319H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681227	NM_013385.5(CYTH4):c.40G>A (p.Gly14Arg)	CYTH4 (G14R)	Single nucleotide variant (5 prime UTR variant +1 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2600519	NM_013385.5(CYTH4):c.653G>A (p.Arg218His)	CYTH4 (R161H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600139	NM_013385.5(CYTH4):c.497C>T (p.Ala166Val)	CYTH4 (A109V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549383	NM_013385.5(CYTH4):c.38G>A (p.Ser13Asn)	CYTH4 (S13N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2537810	NM_013385.5(CYTH4):c.664A>G (p.Asn222Asp)	CYTH4 (N222D +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2518311	NM_013385.5(CYTH4):c.496G>A (p.Ala166Thr)	CYTH4 (A109T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2512842	NM_013385.5(CYTH4):c.1051G>A (p.Glu351Lys)	CYTH4, LOC126863142 (E294K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511344	NM_013385.5(CYTH4):c.989G>A (p.Arg330Gln)	CYTH4, LOC126863142 (R330Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461597	NM_013385.5(CYTH4):c.366C>A (p.Asn122Lys)	CYTH4 (N122K +1 more)	Single nucleotide variant (missense variant)	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 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	ACO2, ADSL +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2388558	NM_013385.5(CYTH4):c.650A>G (p.Asn217Ser)	CYTH4 (N160S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384146	NM_013385.5(CYTH4):c.652C>T (p.Arg218Cys)	CYTH4 (R161C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376816	NM_013385.5(CYTH4):c.373G>A (p.Val125Ile)	CYTH4 (V125I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376165	NM_013385.5(CYTH4):c.439T>C (p.Phe147Leu)	CYTH4 (F147L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372539	NM_013385.5(CYTH4):c.1156C>T (p.Arg386Trp)	CYTH4 (R329W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368221	NM_013385.5(CYTH4):c.995A>G (p.Gln332Arg)	CYTH4, LOC126863142 (Q332R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361645	NM_013385.5(CYTH4):c.1016C>T (p.Thr339Ile)	CYTH4, LOC126863142 (T282I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353719	NM_013385.5(CYTH4):c.1157G>A (p.Arg386Gln)	CYTH4 (R329Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245548	NM_013385.5(CYTH4):c.748G>A (p.Gly250Ser)	CYTH4 (G193S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234662	NM_013385.5(CYTH4):c.908T>C (p.Ile303Thr)	CYTH4, LOC126863142 (I246T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 781618	NM_013385.5(CYTH4):c.220A>G (p.Met74Val)	CYTH4 (M74V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 734145	NM_013385.5(CYTH4):c.319A>C (p.Asn107His)	CYTH4 (N107H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 734144	NM_013385.5(CYTH4):c.262C>T (p.Leu88=)	CYTH4	Single nucleotide variant (synonymous variant)	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 443342	GRCh37/hg19 22q12.3-13.1(chr22:35674826-39466442)x3	ANKRD54, APOBEC3A +76 more	Copy number gain	See cases	GLikely pathogenic
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 221996	GRCh37/hg19 22q12.3-13.1(chr22:35680095-38098981)x1	APOL1, APOL2 +41 more	Copy number loss	See cases	GPathogenic
Select item 150377	GRCh38/hg38 22q12.3-13.1(chr22:36904830-37555510)x1	C1QTNF6, CARD10 +62 more	Copy number loss	See cases	GUncertain significance
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 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 57630	GRCh38/hg38 22q12.3-13.1(chr22:36552376-37669915)x1	C1QTNF6, CACNG2 +93 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
Select item 57423	GRCh38/hg38 22q12.3-13.1(chr22:37124249-37580757)x3	C1QTNF6, CARD10 +51 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Links from Gene

Items: 49