USP49[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	LOC129996415, LOC129996416 +435 more	Copy number loss	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC132089395, LOC132089396 +324 more	Copy number loss	See cases	GPathogenic
Select item 2495389	NM_001286554.2(USP49):c.1759A>G (p.Met587Val)	USP49 (M587V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528946	NM_001286554.2(USP49):c.1758C>A (p.Asp586Glu)	USP49 (D586E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187725	NM_001286554.2(USP49):c.1611A>C (p.Arg537Ser)	USP49 (R537S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293286	NM_001286554.2(USP49):c.1576T>C (p.Ser526Pro)	USP49 (S526P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604127	NM_001286554.2(USP49):c.1543G>A (p.Ala515Thr)	USP49 (A515T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318943	NM_001286554.2(USP49):c.1530A>C (p.Glu510Asp)	USP49 (E510D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336117	NM_001286554.2(USP49):c.1286C>G (p.Ser429Cys)	USP49 (S429C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597238	NM_001286554.2(USP49):c.1184A>G (p.Tyr395Cys)	USP49 (Y395C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287309	NM_001286554.2(USP49):c.1121C>T (p.Ala374Val)	USP49 (A374V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326229	NM_001286554.2(USP49):c.1012A>G (p.Ile338Val)	USP49 (I338V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187732	NM_001286554.2(USP49):c.994T>C (p.Trp332Arg)	USP49 (W332R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344909	NM_001286554.2(USP49):c.986G>T (p.Gly329Val)	USP49 (G329V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317029	NM_001286554.2(USP49):c.957T>G (p.Asn319Lys)	USP49 (N319K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249728	NM_001286554.2(USP49):c.935C>T (p.Ala312Val)	USP49 (A312V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331608	NM_001286554.2(USP49):c.928A>G (p.Ser310Gly)	USP49 (S310G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187730	NM_001286554.2(USP49):c.731G>T (p.Arg244Leu)	USP49 (R244L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187729	NM_001286554.2(USP49):c.716C>G (p.Thr239Arg)	USP49 (T239R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187728	NM_001286554.2(USP49):c.715A>C (p.Thr239Pro)	USP49 (T239P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531613	NM_001286554.2(USP49):c.703G>C (p.Val235Leu)	USP49 (V235L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262588	NM_001286554.2(USP49):c.683C>A (p.Ala228Asp)	USP49 (A228D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472679	NM_001286554.2(USP49):c.662C>T (p.Pro221Leu)	USP49 (P221L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507449	NM_001286554.2(USP49):c.583C>G (p.Arg195Gly)	USP49 (R195G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219265	NM_001286554.2(USP49):c.557G>C (p.Arg186Pro)	USP49 (R186P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295795	NM_001286554.2(USP49):c.551A>C (p.Glu184Ala)	USP49 (E184A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2211925	NM_001286554.2(USP49):c.544A>G (p.Lys182Glu)	USP49 (K182E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187727	NM_001286554.2(USP49):c.514C>T (p.Arg172Trp)	USP49 (R172W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557353	NM_001286554.2(USP49):c.461C>T (p.Thr154Met)	USP49 (T154M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264853	NM_001286554.2(USP49):c.422C>A (p.Thr141Lys)	USP49 (T141K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778339	NM_001286554.2(USP49):c.382C>A (p.Leu128Met)	USP49 (L128M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3187726	NM_001286554.2(USP49):c.376G>A (p.Val126Met)	USP49 (V126M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371462	NM_001286554.2(USP49):c.337C>A (p.Arg113Ser)	USP49 (R113S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206576	NM_001286554.2(USP49):c.322G>A (p.Asp108Asn)	USP49 (D108N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331609	NM_001286554.2(USP49):c.320A>G (p.Gln107Arg)	USP49 (Q107R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620813	NM_001286554.2(USP49):c.288A>C (p.Arg96Ser)	USP49 (R96S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300043	NM_001286554.2(USP49):c.160G>A (p.Ala54Thr)	USP49 (A54T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381216	NM_001286554.2(USP49):c.154G>A (p.Asp52Asn)	USP49 (D52N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291847	NM_001286554.2(USP49):c.103G>A (p.Val35Met)	USP49 (V35M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685202	GRCh37/hg19 6p21.31-21.1(chr6:35562152-42003452)x1	BNIP5, APOBEC2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2422887	NC_000006.11:g.(?_41126341)_(43737486_?)dup	ABCC10, BICRAL +57 more	Duplication	PRPH2-related disorder	GUncertain significance
Select item 2422814	NC_000006.11:g.(?_41126341)_(43752536_?)del	ABCC10, BICRAL +58 more	Deletion	Peroxisome biogenesis disorder	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 46