"GeneDx"[submitter] AND "UNC79"[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 57811	GRCh38/hg38 14q32.11-32.13(chr14:90255156-95274696)x1	ASB2, ATXN3 +201 more	Copy number loss	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 3365491	NM_001395159.1(UNC79):c.23-2A>G	UNC79	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3363455	NM_001395159.1(UNC79):c.754C>T (p.Gln252Ter)	UNC79 (Q252* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2574551	NM_001395159.1(UNC79):c.1117A>T (p.Lys373Ter)	UNC79 (K196* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3371782	NM_001395159.1(UNC79):c.1233T>G (p.His411Gln)	UNC79 (H234Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368694	NM_001395159.1(UNC79):c.1351A>G (p.Ser451Gly)	UNC79 (S274G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575680	NM_001395159.1(UNC79):c.1583C>T (p.Ala528Val)	UNC79 (A351V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571821	NM_001395159.1(UNC79):c.2078C>A (p.Ser693Ter)	UNC79 (S516* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3367859	NM_001395159.1(UNC79):c.2721_2724del (p.Pro908fs)	UNC79 (P731fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2575839	NM_001395159.1(UNC79):c.2731dup (p.Glu911fs)	UNC79 (E734fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3372497	NM_001395159.1(UNC79):c.2905C>T (p.Pro969Ser)	UNC79 (P792S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371312	NM_001395159.1(UNC79):c.3607C>G (p.Leu1203Val)	UNC79 (L1026V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364787	NM_001395159.1(UNC79):c.3623T>C (p.Leu1208Ser)	UNC79 (L1031S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368084	NM_001395159.1(UNC79):c.3713A>G (p.Lys1238Arg)	UNC79 (K1061R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364492	NM_001395159.1(UNC79):c.3865C>G (p.Pro1289Ala)	UNC79 (P1090A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364901	NM_001395159.1(UNC79):c.3994C>T (p.Arg1332Ter)	UNC79 (R1133* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3364194	NM_001395159.1(UNC79):c.4064G>A (p.Arg1355His)	UNC79 (R1156H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253123	NM_001395159.1(UNC79):c.4099A>G (p.Ile1367Val)	UNC79 (I1168V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366136	NM_001395159.1(UNC79):c.4379G>T (p.Cys1460Phe)	UNC79 (C1261F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 161738	NM_001395159.1(UNC79):c.4394C>T (p.Thr1465Met)	UNC79 (T1266M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370225	NM_001395159.1(UNC79):c.5753G>T (p.Ser1918Ile)	UNC79 (S1669I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367317	NM_001395159.1(UNC79):c.6062C>A (p.Pro2021His)	UNC79 (P1772H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364382	NM_001395159.1(UNC79):c.6337G>A (p.Ala2113Thr)	UNC79 (A1864T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370172	NM_001395159.1(UNC79):c.6416+5G>A	UNC79	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2575676	NM_001395159.1(UNC79):c.6536del (p.Thr2179fs)	UNC79 (T1930fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3370259	NM_001395159.1(UNC79):c.6553G>C (p.Ala2185Pro)	UNC79 (A1936P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365779	NM_001395159.1(UNC79):c.6858+3A>G	UNC79	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3370626	NM_001395159.1(UNC79):c.6973C>T (p.Arg2325Ter)	UNC79 (R2076* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3371954	NM_001395159.1(UNC79):c.7214C>G (p.Ala2405Gly)	UNC79 (A2156G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364902	NM_001395159.1(UNC79):c.7242+2T>G	UNC79	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2571776	NM_001395159.1(UNC79):c.7282A>G (p.Thr2428Ala)	UNC79 (T2179A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363389	NM_001395159.1(UNC79):c.7379T>G (p.Leu2460Arg)	UNC79 (L2211R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360600	NM_001395159.1(UNC79):c.6635del (p.Asn2212fs)	UNC79 (N1963fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3360309	NM_001395159.1(UNC79):c.4064G>T (p.Arg1355Leu)	UNC79 (R1156L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 36