USP14[gene] and "single gene"[properties] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 755783	NM_005151.4(USP14):c.17-6T>C	USP14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 764797	NM_005151.4(USP14):c.17-3C>T	USP14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2605193	NM_005151.4(USP14):c.50G>A (p.Gly17Asp)	USP14 (G17D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187161	NM_005151.4(USP14):c.79A>G (p.Met27Val)	USP14 (M27V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718575	NM_005151.4(USP14):c.105G>A (p.Ala35=)	USP14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2318307	NM_005151.4(USP14):c.136G>A (p.Val46Ile)	USP14 (V46I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303382	NM_005151.4(USP14):c.227A>T (p.Asp76Val)	USP14 (D76V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1064693	NM_005151.4(USP14):c.233_236del (p.Leu78fs)	USP14 (L78fs)	Deletion (frameshift variant +1 more)	See cases	GPathogenic
Select item 2595423	NM_005151.4(USP14):c.281A>G (p.Glu94Gly)	USP14 (E94G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331333	NM_005151.4(USP14):c.521T>C (p.Ile174Thr)	USP14 (I139T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187159	NM_005151.4(USP14):c.677C>G (p.Thr226Arg)	USP14 (T191R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187160	NM_005151.4(USP14):c.704C>A (p.Thr235Lys)	USP14 (T235K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622948	NM_005151.4(USP14):c.736T>A (p.Phe246Ile)	USP14 (F211I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331335	NM_005151.4(USP14):c.791A>T (p.Glu264Val)	USP14 (E264V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494952	NM_005151.4(USP14):c.835A>G (p.Ile279Val)	USP14 (I244V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274638	NM_005151.4(USP14):c.851A>T (p.Lys284Met)	USP14 (K249M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1226537	NM_005151.4(USP14):c.943-17A>C	USP14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3187157	NM_005151.4(USP14):c.1055T>C (p.Met352Thr)	USP14 (M317T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 742955	NM_005151.4(USP14):c.1057T>C (p.Leu353=)	USP14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 789101	NM_005151.4(USP14):c.1074G>C (p.Leu358=)	USP14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3331334	NM_005151.4(USP14):c.1084G>C (p.Glu362Gln)	USP14 (E362Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187158	NM_005151.4(USP14):c.1195G>A (p.Val399Ile)	USP14 (V364I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331332	NM_005151.4(USP14):c.1229T>C (p.Ile410Thr)	USP14 (I375T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722595	NM_005151.4(USP14):c.1293T>C (p.Ser431=)	USP14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 736870	NM_005151.4(USP14):c.1314A>G (p.Ser438=)	USP14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 739467	NM_005151.4(USP14):c.1386T>C (p.Asp462=)	USP14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 777894	NM_005151.4(USP14):c.1395G>T (p.Arg465=)	USP14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781874	NM_005151.4(USP14):c.1428C>T (p.Tyr476=)	USP14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2554916	NM_005151.4(USP14):c.1447C>T (p.Arg483Cys)	USP14 (R483C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568928	NM_005151.4(USP14):c.1463T>A (p.Met488Lys)	USP14 (M453K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 30