113457[geneid] - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60184	GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1	ACMSD, AMER3 +391 more	Copy number loss	See cases	GPathogenic
Select item 147544	GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1	ACMSD, AMER3 +336 more	Copy number loss	See cases	GPathogenic
Select item 148042	GRCh38/hg38 2q21.1(chr2:130743933-131549753)x1	AMER3, ARHGEF4 +24 more	Copy number loss	See cases	GUncertain significance
Select item 152948	GRCh38/hg38 2q21.1-21.2(chr2:131100857-132436431)x3	ANKRD30BL, CCDC74A +32 more	Copy number gain	See cases	GUncertain significance
Select item 153349	GRCh38/hg38 2q21.1(chr2:131271331-131497222)x0	LINC01120, LOC108228198 +5 more	Copy number loss	See cases	GLikely benign
Select item 154056	GRCh38/hg38 2q21.1-21.2(chr2:131291207-132406186)x3	ANKRD30BL, CCDC74A +24 more	Copy number gain	See cases	GLikely benign
Select item 145785	GRCh38/hg38 2q21.1(chr2:131310498-131508954)x3	LINC01120, MIR4784 +3 more	Copy number gain	See cases	GBenign
Select item 152224	GRCh38/hg38 2q21.1(chr2:131337384-131619715)x1	CCDC74A, LINC01120 +10 more	Copy number loss	See cases	GLikely benign
Select item 150362	GRCh38/hg38 2q21.1(chr2:131337384-131605323)x1	CCDC74A, LINC01120 +10 more	Copy number loss	See cases	GLikely benign
Select item 150720	GRCh38/hg38 2q21.1(chr2:131340404-131643336)x1	CCDC74A, LINC01087 +11 more	Copy number loss	See cases	GLikely benign
Select item 151118	GRCh38/hg38 2q21.1-21.2(chr2:131409034-131940119)x1	CDRT15P3, LINC01087 +14 more	Copy number loss	See cases	GUncertain significance
Select item 150449	GRCh38/hg38 2q21.1-21.2(chr2:131451345-131736366)x1	CCDC74A, LINC01087 +13 more	Copy number loss	See cases	GLikely benign
Select item 150443	GRCh38/hg38 2q21.1-21.2(chr2:131451345-131736366)x3	CCDC74A, LINC01087 +13 more	Copy number gain	See cases	GLikely benign
Select item 788512	NM_080386.4(TUBA3D):c.4-9T>G	MZT2A, TUBA3D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3184720	NM_080386.4(TUBA3D):c.25G>A (p.Val9Met)	MZT2A, TUBA3D (V9M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 517113	NM_080386.4(TUBA3D):c.31C>T (p.Gln11Ter)	MZT2A, TUBA3D (Q11*)	Single nucleotide variant (nonsense)	Keratoconus 9	GPathogenic
Select item 3330195	NM_080386.4(TUBA3D):c.101G>A (p.Gly34Asp)	MZT2A, TUBA3D (G34D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330192	NM_080386.4(TUBA3D):c.133G>A (p.Gly45Arg)	MZT2A, TUBA3D (G45R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483624	NM_080386.4(TUBA3D):c.139G>A (p.Asp47Asn)	MZT2A, TUBA3D (D47N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262122	NM_080386.4(TUBA3D):c.158T>C (p.Phe53Ser)	MZT2A, TUBA3D (F53S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 517114	NM_080386.4(TUBA3D):c.200_201dup (p.Val68fs)	MZT2A, TUBA3D (V68fs)	Duplication (frameshift variant)	Keratoconus 9	GPathogenic
Select item 3184721	NM_080386.4(TUBA3D):c.266C>T (p.Pro89Leu)	MZT2A, TUBA3D (P89L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791869	NM_080386.4(TUBA3D):c.309C>T (p.Tyr103=)	MZT2A, TUBA3D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 791870	NM_080386.4(TUBA3D):c.341T>A (p.Ile114Asn)	MZT2A, TUBA3D (I114N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2297576	NM_080386.4(TUBA3D):c.430G>A (p.Gly144Ser)	MZT2A, TUBA3D (G144S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344709	NM_080386.4(TUBA3D):c.467G>A (p.Arg156Gln)	MZT2A, TUBA3D (R156Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184722	NM_080386.4(TUBA3D):c.592T>C (p.Ser198Pro)	MZT2A, TUBA3D (S198P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594032	NM_080386.4(TUBA3D):c.598T>C (p.Cys200Arg)	MZT2A, TUBA3D (C200R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184724	NM_080386.4(TUBA3D):c.637T>C (p.Cys213Arg)	MZT2A, TUBA3D (C213R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330193	NM_080386.4(TUBA3D):c.640C>T (p.Arg214Trp)	MZT2A, TUBA3D (R214W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184725	NM_080386.4(TUBA3D):c.643C>T (p.Arg215Cys)	MZT2A, TUBA3D (R215C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321137	NM_080386.4(TUBA3D):c.656T>C (p.Ile219Thr)	MZT2A, TUBA3D (I219T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471341	NM_080386.4(TUBA3D):c.668C>A (p.Thr223Lys)	MZT2A, TUBA3D (T223K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330194	NM_080386.4(TUBA3D):c.716C>T (p.Thr239Ile)	MZT2A, TUBA3D (T239I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401190	NM_080386.4(TUBA3D):c.758C>T (p.Thr253Met)	MZT2A, TUBA3D (T253M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204981	NM_080386.4(TUBA3D):c.799T>A (p.Phe267Ile)	MZT2A, TUBA3D (F267I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024874	NM_080386.4(TUBA3D):c.849C>T (p.His283=)	MZT2A, TUBA3D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024875	NM_080386.4(TUBA3D):c.867C>T (p.Ala289=)	MZT2A, TUBA3D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2249222	NM_080386.4(TUBA3D):c.880G>A (p.Ala294Thr)	MZT2A, TUBA3D (A294T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517106	NM_080386.4(TUBA3D):c.910A>G (p.Lys304Glu)	MZT2A, TUBA3D (K304E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597684	NM_080386.4(TUBA3D):c.968T>C (p.Val323Ala)	MZT2A, TUBA3D (V323A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560412	NM_080386.4(TUBA3D):c.989C>T (p.Ala330Val)	MZT2A, TUBA3D (A330V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602923	NM_080386.4(TUBA3D):c.998C>T (p.Ala333Val)	MZT2A, TUBA3D (A333V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184716	NM_080386.4(TUBA3D):c.1015C>T (p.Arg339Cys)	MZT2A, TUBA3D (R339C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184717	NM_080386.4(TUBA3D):c.1018A>G (p.Thr340Ala)	MZT2A, TUBA3D (T340A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352775	NM_080386.4(TUBA3D):c.1093G>A (p.Gly365Arg)	MZT2A, TUBA3D (G365R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204306	NM_080386.4(TUBA3D):c.1103T>G (p.Leu368Arg)	MZT2A, TUBA3D (L368R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710894	NM_080386.4(TUBA3D):c.1122C>T (p.Ala374=)	TUBA3D, MZT2A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3184718	NM_080386.4(TUBA3D):c.1168C>G (p.Arg390Gly)	MZT2A, TUBA3D (R390G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509148	NM_080386.4(TUBA3D):c.1169G>A (p.Arg390His)	MZT2A, TUBA3D (R390H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598105	NM_080386.4(TUBA3D):c.1184T>C (p.Phe395Ser)	MZT2A, TUBA3D (F395S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681629	NM_080386.4(TUBA3D):c.1185C>T (p.Phe395=)	MZT2A, TUBA3D	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2466825	NM_080386.4(TUBA3D):c.1204C>T (p.Arg402Trp)	MZT2A, TUBA3D (R402W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330190	NM_080386.4(TUBA3D):c.1255T>A (p.Ser419Thr)	MZT2A, TUBA3D (S419T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 732585	NM_080386.4(TUBA3D):c.1264C>T (p.Arg422Cys)	MZT2A, TUBA3D (R422C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2408491	NM_080386.4(TUBA3D):c.1267G>A (p.Glu423Lys)	MZT2A, TUBA3D (E423K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062651	GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	ACOXL, ACTR3 +121 more	Copy number loss	not specified	GPathogenic
Select item 2684708	GRCh37/hg19 2q21.1-21.2(chr2:131777624-134871884)x1	ARHGEF4, CCDC74A +11 more	Copy number loss	not provided	GUncertain significance
Select item 1809452	GRCh37/hg19 2q21.1(chr2:131974176-132280823)x1	MZT2A, POTEE +1 more	Copy number loss	not provided	GUncertain significance
Select item 1808961	GRCh37/hg19 2q21.1(chr2:131974176-132269102)x1	MZT2A, POTEE +1 more	Copy number loss	not provided	GUncertain significance
Select item 1807594	GRCh37/hg19 2q21.1-21.2(chr2:132058665-133163759)x3	C2orf27A, CCDC74A +4 more	Copy number gain	not provided	GUncertain significance
Select item 1710918	GRCh37/hg19 2q21.1-21.2(chr2:131853044-133195255)x3	C2orf27A, CCDC74A +7 more	Copy number gain	See cases	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1679114	GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3	EPB41L5, ERCC3 +120 more	Copy number gain	2q13q22.3 microduplication syndrome	GPathogenic
Select item 1340017	GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3	GPR39, IL1F10 +122 more	Copy number gain	not provided	GPathogenic
Select item 1339988	GRCh37/hg19 2q14.3-22.2(chr2:122699106-143799629)x1	ACMSD, AMER3 +64 more	Copy number loss	not provided	GPathogenic
Select item 929341	GRCh37/hg19 2q14.3-21.2(chr2:122952356-133826358)x1	AMER3, AMMECR1L +44 more	Copy number loss	See cases	GLikely pathogenic
Select item 814305	GRCh37/hg19 2q21.1(chr2:131477947-132280823)x1	ARHGEF4, TUBA3D +6 more	Copy number loss	not provided	GUncertain significance
Select item 685771	GRCh37/hg19 2q21.1-21.2(chr2:130916858-134213436)x3	AMER3, IMP4 +23 more	Copy number gain	not provided	GUncertain significance
Select item 685387	GRCh37/hg19 2q21.1(chr2:131452092-132269288)x3	AMER3, ARHGEF4 +6 more	Copy number gain	not provided	GUncertain significance
Select item 685027	GRCh37/hg19 2q21.1(chr2:131441725-132267790)x3	AMER3, ARHGEF4 +6 more	Copy number gain	not provided	GUncertain significance
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443178	GRCh37/hg19 2q21.1-21.2(chr2:130920847-134220436)x3	AMER3, ARHGEF4 +23 more	Copy number gain	See cases	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 441676	GRCh37/hg19 2q14.2-22.1(chr2:120571363-141627287)x1	ACMSD, AMER3 +74 more	Copy number loss	See cases	GPathogenic
Select item 393884	GRCh37/hg19 2q21.1(chr2:132238316-132290940)x3	CCDC74A, MZT2A +1 more	Copy number gain	See cases	GBenign
Select item 393531	GRCh37/hg19 2q21.1(chr2:132140614-132312325)x3	CCDC74A, MZT2A +1 more	Copy number gain	VATER association	GLikely benign

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Items: 79