ClinVar for Gene (Select 23379) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3285203	NM_015325.3(ICE1):c.1748G>A (p.Gly583Asp)	ICE1 (G583D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3285202	NM_015325.3(ICE1):c.3590C>A (p.Ser1197Tyr)	ICE1 (S1197Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285201	NM_015325.3(ICE1):c.521A>T (p.Glu174Val)	ICE1 (E174V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285200	NM_015325.3(ICE1):c.4532G>A (p.Arg1511Gln)	ICE1 (R1511Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285199	NM_015325.3(ICE1):c.6148A>G (p.Met2050Val)	ICE1 (M2050V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285198	NM_015325.3(ICE1):c.1004A>G (p.Asp335Gly)	ICE1 (D335G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285197	NM_015325.3(ICE1):c.1685A>G (p.Glu562Gly)	ICE1 (E562G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285196	NM_015325.3(ICE1):c.5000G>C (p.Gly1667Ala)	ICE1 (G1667A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285195	NM_015325.3(ICE1):c.597A>G (p.Ile199Met)	ICE1 (I199M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285194	NM_015325.3(ICE1):c.1631T>C (p.Met544Thr)	ICE1 (M544T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285193	NM_015325.3(ICE1):c.3806A>C (p.Glu1269Ala)	ICE1 (E1269A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285192	NM_015325.3(ICE1):c.1406G>A (p.Arg469Gln)	ICE1 (R469Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3285191	NM_015325.3(ICE1):c.6594G>T (p.Met2198Ile)	ICE1 (M2198I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285190	NM_015325.3(ICE1):c.2369C>T (p.Ser790Leu)	ICE1 (S790L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285189	NM_015325.3(ICE1):c.5680G>A (p.Val1894Ile)	ICE1 (V1894I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3148925	GRCh37/hg19 5p15.33-13.3(chr5:113577-31773283)x3	MRPL36, MTRR +70 more	Copy number gain	not provided	GPathogenic
Select item 3148923	GRCh37/hg19 5p15.33-15.2(chr5:113577-13341742)x1	ADAMTS16, ADCY2 +49 more	Copy number loss	not provided	GPathogenic
Select item 3107965	NM_015325.3(ICE1):c.935G>T (p.Arg312Leu)	ICE1 (R312L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107964	NM_015325.3(ICE1):c.779C>T (p.Ser260Leu)	ICE1 (S260L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107963	NM_015325.3(ICE1):c.6796G>A (p.Gly2266Ser)	ICE1 (G2266S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107962	NM_015325.3(ICE1):c.6748A>G (p.Ile2250Val)	ICE1 (I2250V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3107961	NM_015325.3(ICE1):c.6716G>A (p.Arg2239Gln)	ICE1 (R2239Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107960	NM_015325.3(ICE1):c.6476C>T (p.Ala2159Val)	ICE1 (A2159V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107959	NM_015325.3(ICE1):c.6170G>A (p.Arg2057His)	ICE1 (R2057H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107958	NM_015325.3(ICE1):c.6127C>G (p.Gln2043Glu)	ICE1 (Q2043E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107957	NM_015325.3(ICE1):c.5677G>A (p.Ala1893Thr)	ICE1 (A1893T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107956	NM_015325.3(ICE1):c.5414C>T (p.Ala1805Val)	ICE1 (A1805V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107955	NM_015325.3(ICE1):c.5360C>T (p.Pro1787Leu)	ICE1 (P1787L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107954	NM_015325.3(ICE1):c.5068C>T (p.Arg1690Cys)	ICE1 (R1690C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107953	NM_015325.3(ICE1):c.4963T>C (p.Ser1655Pro)	ICE1 (S1655P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107952	NM_015325.3(ICE1):c.4718C>T (p.Ser1573Leu)	ICE1 (S1573L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107951	NM_015325.3(ICE1):c.4471T>C (p.Cys1491Arg)	ICE1 (C1491R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107950	NM_015325.3(ICE1):c.4337G>C (p.Gly1446Ala)	ICE1 (G1446A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107949	NM_015325.3(ICE1):c.4171G>A (p.Glu1391Lys)	ICE1 (E1391K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107948	NM_015325.3(ICE1):c.4165G>A (p.Glu1389Lys)	ICE1 (E1389K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107947	NM_015325.3(ICE1):c.3833A>G (p.Asn1278Ser)	ICE1 (N1278S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3107946	NM_015325.3(ICE1):c.3832A>G (p.Asn1278Asp)	ICE1 (N1278D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107945	NM_015325.3(ICE1):c.3706A>G (p.Ile1236Val)	ICE1 (I1236V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3107944	NM_015325.3(ICE1):c.349G>A (p.Ala117Thr)	ICE1 (A117T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107943	NM_015325.3(ICE1):c.3311G>C (p.Gly1104Ala)	ICE1 (G1104A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107942	NM_015325.3(ICE1):c.3306G>T (p.Glu1102Asp)	ICE1 (E1102D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107941	NM_015325.3(ICE1):c.3078A>T (p.Arg1026Ser)	ICE1 (R1026S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107940	NM_015325.3(ICE1):c.3073G>T (p.Gly1025Trp)	ICE1 (G1025W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107938	NM_015325.3(ICE1):c.3038G>A (p.Gly1013Glu)	ICE1 (G1013E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107937	NM_015325.3(ICE1):c.2261G>T (p.Ser754Ile)	ICE1 (S754I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107936	NM_015325.3(ICE1):c.2218C>T (p.Arg740Trp)	ICE1 (R740W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107935	NM_015325.3(ICE1):c.2080A>G (p.Ile694Val)	ICE1 (I694V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107934	NM_015325.3(ICE1):c.2072A>G (p.Glu691Gly)	ICE1 (E691G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107932	NM_015325.3(ICE1):c.1733G>A (p.Arg578His)	ICE1 (R578H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107931	NM_015325.3(ICE1):c.1667T>C (p.Met556Thr)	ICE1 (M556T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107930	NM_015325.3(ICE1):c.1055C>T (p.Pro352Leu)	ICE1 (P352L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3107929	NM_015325.3(ICE1):c.1013A>G (p.Lys338Arg)	ICE1 (K338R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3062870	GRCh37/hg19 5p15.33-15.2(chr5:113576-10835556)x1	ADAMTS16, ADCY2 +47 more	Copy number loss	not specified	GPathogenic
Select item 3062869	GRCh37/hg19 5p15.33-15.1(chr5:3272715-17317051)x1	ADAMTS16, ADCY2 +33 more	Copy number loss	not specified	GPathogenic
Select item 3062868	GRCh37/hg19 5p15.33-15.31(chr5:113576-7436985)x1	ADAMTS16, ADCY2 +35 more	Copy number loss	not specified	GPathogenic
Select item 3062864	GRCh37/hg19 5p15.33-14.3(chr5:113576-19388145)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not specified	GPathogenic
Select item 3062860	GRCh37/hg19 5p15.33-15.1(chr5:113576-17511896)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not specified	GPathogenic
Select item 3062831	GRCh37/hg19 5p15.33-14.1(chr5:113576-26534253)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	not specified	GPathogenic
Select item 3062827	GRCh37/hg19 5p15.32-13.3(chr5:5259461-29748394)x1	ADAMTS16, ADCY2 +38 more	Copy number loss	not specified	GPathogenic
Select item 3062815	GRCh37/hg19 5p15.33-14.1(chr5:113576-28300709)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	not specified	GPathogenic
Select item 3049775	NM_015325.3(ICE1):c.4389A>G (p.Pro1463=)	ICE1	Single nucleotide variant (synonymous variant)	ICE1-related disorder	GLikely benign
Select item 3043212	NM_015325.3(ICE1):c.4222G>C (p.Val1408Leu)	ICE1 (V1408L)	Single nucleotide variant (missense variant)	ICE1-related disorder	GUncertain significance
Select item 3029033	NM_015325.3(ICE1):c.3197C>T (p.Thr1066Ile)	ICE1 (T1066I)	Single nucleotide variant (missense variant)	ICE1-related disorder	GUncertain significance
Select item 2685145	GRCh37/hg19 5p15.33-14.3(chr5:862398-18927500)x1	ADAMTS16, ADCY2 +48 more	Copy number loss	not provided	GPathogenic
Select item 2685142	GRCh37/hg19 5p15.33-14.3(chr5:113577-21529653)x1	ADAMTS16, ADCY2 +62 more	Copy number loss	not provided	GPathogenic
Select item 2685141	GRCh37/hg19 5p15.33-13.3(chr5:113577-30529044)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2685140	GRCh37/hg19 5p15.33-15.2(chr5:113577-11095056)x1	ADAMTS16, ADCY2 +48 more	Copy number loss	not provided	GPathogenic
Select item 2685139	GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1	ADAMTS12, ADAMTS16 +89 more	Copy number loss	not provided	GPathogenic
Select item 2684407	GRCh37/hg19 5p15.33-15.32(chr5:4391653-5439206)x3	ADAMTS16, ICE1	Copy number gain	not provided	GUncertain significance
Select item 2684403	GRCh37/hg19 5p15.33-14.1(chr5:113577-27800913)x3	ADAMTS16, ADCY2 +67 more	Copy number gain	not provided	GPathogenic
Select item 2655289	NM_015325.3(ICE1):c.2172A>G (p.Glu724=)	ICE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2633450	NM_015325.3(ICE1):c.2039T>C (p.Leu680Ser)	ICE1 (L680S)	Single nucleotide variant (missense variant)	ICE1-related disorder	GUncertain significance
Select item 2623877	NM_015325.3(ICE1):c.413A>G (p.Lys138Arg)	ICE1 (K138R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617374	NM_015325.3(ICE1):c.4246C>G (p.Leu1416Val)	ICE1 (L1416V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614470	NM_015325.3(ICE1):c.3457A>T (p.Thr1153Ser)	ICE1 (T1153S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610402	NM_015325.3(ICE1):c.1750C>G (p.His584Asp)	ICE1 (H584D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608109	NM_015325.3(ICE1):c.1067C>A (p.Pro356His)	ICE1 (P356H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604843	NM_015325.3(ICE1):c.4646C>G (p.Ser1549Cys)	ICE1 (S1549C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594986	NM_015325.3(ICE1):c.2069C>T (p.Pro690Leu)	ICE1 (P690L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594163	NM_015325.3(ICE1):c.5005G>A (p.Val1669Ile)	ICE1 (V1669I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2589172	NM_015325.3(ICE1):c.4882G>A (p.Val1628Met)	ICE1 (V1628M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2587926	NM_015325.3(ICE1):c.3214T>C (p.Ser1072Pro)	ICE1 (S1072P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2579279	GRCh38/hg38 5p15.33-15.2(chr5:9999-14320000)x1	LOC129993645, LOC129993646 +419 more	Copy number loss	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GPathogenic
Select item 2566152	NM_015325.3(ICE1):c.4693A>G (p.Asn1565Asp)	ICE1 (N1565D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558673	NM_015325.3(ICE1):c.4396T>G (p.Ser1466Ala)	ICE1 (S1466A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552978	NM_015325.3(ICE1):c.638T>C (p.Leu213Pro)	ICE1 (L213P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543794	NM_015325.3(ICE1):c.2634G>C (p.Leu878Phe)	ICE1 (L878F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542782	NM_015325.3(ICE1):c.5496C>G (p.Ser1832Arg)	ICE1 (S1832R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539328	NM_015325.3(ICE1):c.5069G>A (p.Arg1690His)	ICE1 (R1690H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534957	NM_015325.3(ICE1):c.2121C>G (p.Ser707Arg)	ICE1 (S707R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531800	NM_015325.3(ICE1):c.1589T>G (p.Leu530Trp)	ICE1 (L530W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528104	NM_015325.3(ICE1):c.1633G>A (p.Glu545Lys)	ICE1 (E545K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528088	NM_015325.3(ICE1):c.1718C>T (p.Thr573Ile)	ICE1 (T573I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527083	NM_015325.3(ICE1):c.2903A>C (p.Asn968Thr)	ICE1 (N968T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522736	NM_015325.3(ICE1):c.3878A>G (p.Asn1293Ser)	ICE1 (N1293S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2518344	NM_015325.3(ICE1):c.5545C>T (p.Arg1849Cys)	ICE1 (R1849C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515433	NM_015325.3(ICE1):c.5017C>T (p.Arg1673Cys)	ICE1 (R1673C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2515294	NM_015325.3(ICE1):c.4942C>G (p.Gln1648Glu)	ICE1 (Q1648E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513976	NM_015325.3(ICE1):c.3316G>A (p.Asp1106Asn)	ICE1 (D1106N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492055	NM_015325.3(ICE1):c.5729C>T (p.Ser1910Phe)	ICE1 (S1910F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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