17448[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 more	Copy number loss	See cases	GPathogenic
Select item 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	A4GNT, ACAD11 +345 more	Copy number loss	See cases	GPathogenic
Select item 155567	GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1	A4GNT, AMOTL2 +301 more	Copy number loss	See cases	GPathogenic
Select item 149077	GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1	LOC129937630, LOC129937631 +320 more	Copy number loss	See cases	GPathogenic
Select item 151765	GRCh38/hg38 3q22.2-23(chr3:134333553-141701458)x1	A4GNT, AMOTL2 +167 more	Copy number loss	See cases	GPathogenic
Select item 57832	GRCh38/hg38 3q22.2-24(chr3:135227451-145870770)x1	A4GNT, ARMC8 +221 more	Copy number loss	See cases	GPathogenic
Select item 145313	GRCh38/hg38 3q22.3-24(chr3:137932000-144468739)x1	A4GNT, ARMC8 +171 more	Copy number loss	See cases	GPathogenic
Select item 150251	GRCh38/hg38 3q22.3-24(chr3:137991123-143618786)x1	A4GNT, ARMC8 +155 more	Copy number loss	See cases	GPathogenic
Select item 147602	GRCh38/hg38 3q22.3-23(chr3:138629115-140055056)x3	BPESC1, CLSTN2 +39 more	Copy number gain	See cases	GPathogenic
Select item 154230	GRCh38/hg38 3q23(chr3:139466635-140108900)x3	CLSTN2, COPB2-DT +12 more	Copy number gain	See cases	GUncertain significance
Select item 149950	GRCh38/hg38 3q23(chr3:139468925-140102684)x3	CLSTN2, COPB2-DT +12 more	Copy number gain	See cases	GUncertain significance
Select item 57796	GRCh38/hg38 3q23(chr3:139525129-140095577)x3	CLSTN2, COPB2-DT +10 more	Copy number gain	See cases	GUncertain significance
Select item 2609012	NM_022131.3(CLSTN2):c.25G>T (p.Val9Leu)	CLSTN2 (V9L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620768	NM_022131.3(CLSTN2):c.43C>A (p.Leu15Met)	CLSTN2 (L15M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491185	NM_022131.3(CLSTN2):c.67G>A (p.Gly23Ser)	CLSTN2 (G23S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373936	NM_022131.3(CLSTN2):c.68G>A (p.Gly23Asp)	CLSTN2 (G23D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555810	NM_022131.3(CLSTN2):c.76G>T (p.Asp26Tyr)	CLSTN2 (D26Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146053	NM_022131.3(CLSTN2):c.206A>G (p.Asp69Gly)	CLSTN2 (D69G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782435	NM_022131.3(CLSTN2):c.233-8T>G	CLSTN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3146058	NM_022131.3(CLSTN2):c.314G>A (p.Arg105Gln)	CLSTN2 (R105Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786022	NM_022131.3(CLSTN2):c.372C>A (p.Ile124=)	CLSTN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2399029	NM_022131.3(CLSTN2):c.379T>A (p.Tyr127Asn)	CLSTN2 (Y127N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146059	NM_022131.3(CLSTN2):c.391G>A (p.Ala131Thr)	CLSTN2 (A131T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 746910	NM_022131.3(CLSTN2):c.402C>T (p.His134=)	CLSTN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2488146	NM_022131.3(CLSTN2):c.601G>A (p.Val201Ile)	CLSTN2 (V201I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146060	NM_022131.3(CLSTN2):c.610G>C (p.Asp204His)	CLSTN2 (D204H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146061	NM_022131.3(CLSTN2):c.661C>A (p.Leu221Met)	CLSTN2 (L221M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594592	NM_022131.3(CLSTN2):c.666C>G (p.Ser222Arg)	CLSTN2 (S222R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146062	NM_022131.3(CLSTN2):c.749A>G (p.Gln250Arg)	CLSTN2 (Q250R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260744	NM_022131.3(CLSTN2):c.823G>A (p.Gly275Arg)	CLSTN2 (G275R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146063	NM_022131.3(CLSTN2):c.850C>T (p.His284Tyr)	CLSTN2 (H284Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146064	NM_022131.3(CLSTN2):c.874G>A (p.Val292Met)	CLSTN2 (V292M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146065	NM_022131.3(CLSTN2):c.892G>A (p.Val298Ile)	CLSTN2 (V298I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771136	NM_022131.3(CLSTN2):c.917T>A (p.Ile306Asn)	CLSTN2 (I306N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3146066	NM_022131.3(CLSTN2):c.935G>A (p.Arg312Gln)	CLSTN2 (R312Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356237	NM_022131.3(CLSTN2):c.1021A>G (p.Thr341Ala)	CLSTN2 (T341A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346417	NM_022131.3(CLSTN2):c.1075G>T (p.Asp359Tyr)	CLSTN2 (D359Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267890	NM_022131.3(CLSTN2):c.1078G>A (p.Gly360Ser)	CLSTN2 (G360S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728113	NM_022131.3(CLSTN2):c.1098C>T (p.Val366=)	CLSTN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620843	NM_022131.3(CLSTN2):c.1159C>T (p.His387Tyr)	CLSTN2 (H387Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543570	NM_022131.3(CLSTN2):c.1161C>A (p.His387Gln)	CLSTN2 (H387Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278076	NM_022131.3(CLSTN2):c.1170C>G (p.Ser390Arg)	CLSTN2 (S390R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146046	NM_022131.3(CLSTN2):c.1234C>A (p.His412Asn)	CLSTN2 (H412N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470303	NM_022131.3(CLSTN2):c.1258A>C (p.Asn420His)	CLSTN2 (N420H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312880	NM_022131.3(CLSTN2):c.1265G>A (p.Arg422His)	CLSTN2 (R422H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217360	NM_022131.3(CLSTN2):c.1307C>T (p.Thr436Ile)	CLSTN2, LOC126806828 (T436I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337490	NM_022131.3(CLSTN2):c.1319C>T (p.Ala440Val)	CLSTN2, LOC126806828 (A440V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230612	NM_022131.3(CLSTN2):c.1337T>G (p.Leu446Arg)	CLSTN2, LOC126806828 (L446R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493727	NM_022131.3(CLSTN2):c.1526C>A (p.Pro509Gln)	CLSTN2 (P509Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146048	NM_022131.3(CLSTN2):c.1559C>T (p.Ala520Val)	CLSTN2 (A520V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146049	NM_022131.3(CLSTN2):c.1574G>A (p.Arg525His)	CLSTN2 (R525H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 792299	NM_022131.3(CLSTN2):c.1641T>C (p.Ile547=)	CLSTN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3267892	NM_022131.3(CLSTN2):c.1715G>A (p.Gly572Asp)	CLSTN2 (G572D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245187	NM_022131.3(CLSTN2):c.1738C>T (p.Arg580Cys)	CLSTN2 (R580C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470406	NM_022131.3(CLSTN2):c.1759T>C (p.Tyr587His)	CLSTN2 (Y587H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146050	NM_022131.3(CLSTN2):c.1765A>C (p.Asn589His)	CLSTN2 (N589H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348657	NM_022131.3(CLSTN2):c.1784C>T (p.Thr595Met)	CLSTN2 (T595M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146051	NM_022131.3(CLSTN2):c.1816A>G (p.Lys606Glu)	CLSTN2 (K606E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654195	NM_022131.3(CLSTN2):c.1839C>T (p.Asp613=)	CLSTN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2597933	NM_022131.3(CLSTN2):c.1900C>T (p.Arg634Trp)	CLSTN2 (R634W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255519	NM_022131.3(CLSTN2):c.1946A>C (p.Gln649Pro)	CLSTN2 (Q649P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228213	NM_022131.3(CLSTN2):c.1977C>A (p.Phe659Leu)	CLSTN2 (F659L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230376	NM_022131.3(CLSTN2):c.2000C>A (p.Thr667Asn)	CLSTN2 (T667N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146052	NM_022131.3(CLSTN2):c.2005G>A (p.Ala669Thr)	CLSTN2 (A669T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720918	NM_022131.3(CLSTN2):c.2028C>T (p.Asp676=)	CLSTN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2473572	NM_022131.3(CLSTN2):c.2048A>T (p.Lys683Ile)	CLSTN2 (K683I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525831	NM_022131.3(CLSTN2):c.2062G>A (p.Glu688Lys)	CLSTN2 (E688K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260661	NM_022131.3(CLSTN2):c.2172C>G (p.His724Gln)	CLSTN2 (H724Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226510	NM_022131.3(CLSTN2):c.2230C>T (p.Arg744Cys)	CLSTN2 (R744C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559011	NM_022131.3(CLSTN2):c.2258G>A (p.Arg753His)	CLSTN2 (R753H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778115	NM_022131.3(CLSTN2):c.2264G>A (p.Arg755His)	CLSTN2 (R755H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2590583	NM_022131.3(CLSTN2):c.2267A>G (p.Asn756Ser)	CLSTN2 (N756S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375305	NM_022131.3(CLSTN2):c.2276C>T (p.Pro759Leu)	CLSTN2 (P759L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1690331	NM_022131.3(CLSTN2):c.2317G>T (p.Glu773Ter)	CLSTN2 (E773*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 788973	NM_022131.3(CLSTN2):c.2328G>A (p.Gly776=)	CLSTN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2393805	NM_022131.3(CLSTN2):c.2330G>A (p.Arg777His)	CLSTN2 (R777H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146054	NM_022131.3(CLSTN2):c.2343T>G (p.Asn781Lys)	CLSTN2 (N781K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304468	NM_022131.3(CLSTN2):c.2362A>C (p.Ser788Arg)	CLSTN2 (S788R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366867	NM_022131.3(CLSTN2):c.2409T>A (p.His803Gln)	CLSTN2 (H803Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146055	NM_022131.3(CLSTN2):c.2410C>G (p.Leu804Val)	CLSTN2 (L804V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364846	NM_022131.3(CLSTN2):c.2453A>C (p.Glu818Ala)	CLSTN2 (E818A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373303	NM_022131.3(CLSTN2):c.2458C>T (p.Arg820Trp)	CLSTN2 (R820W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226598	NM_022131.3(CLSTN2):c.2459G>A (p.Arg820Gln)	CLSTN2 (R820Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3146056	NM_022131.3(CLSTN2):c.2468T>C (p.Ile823Thr)	CLSTN2 (I823T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267891	NM_022131.3(CLSTN2):c.2528T>C (p.Met843Thr)	CLSTN2 (M843T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340621	NM_022131.3(CLSTN2):c.2539G>C (p.Val847Leu)	CLSTN2 (V847L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267893	NM_022131.3(CLSTN2):c.2543T>C (p.Val848Ala)	CLSTN2 (V848A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146057	NM_022131.3(CLSTN2):c.2645C>T (p.Thr882Ile)	CLSTN2 (T882I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379635	NM_022131.3(CLSTN2):c.2686C>T (p.His896Tyr)	CLSTN2 (H896Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725566	NM_022131.3(CLSTN2):c.2728G>A (p.Glu910Lys)	CLSTN2 (E910K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 711373	NM_022131.3(CLSTN2):c.2772GGA[3] (p.Glu928_Glu929del)	CLSTN2	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 2233518	NM_022131.3(CLSTN2):c.2809G>A (p.Gly937Arg)	CLSTN2 (G937R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2671581	Single allele	TFDP2, TRIM42 +26 more	Deletion	not provided	GPathogenic
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1340775	GRCh37/hg19 3q23(chr3:139339589-139659995)x4	CLSTN2, NMNAT3	Copy number gain	not provided	GUncertain significance
Select item 1340364	GRCh37/hg19 3q23(chr3:139185478-139827713)x3	CLSTN2, NMNAT3 +2 more	Copy number gain	not provided	GUncertain significance

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