7750[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009419, LOC130009420 +567 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 153719	GRCh38/hg38 13q11-12.11(chr13:18862146-22489174)x3	CRYL1, EEF1AKMT1 +116 more	Copy number gain	See cases	GPathogenic
Select item 153502	GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3	LOC126861730, LOC126861731 +489 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 59861	GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3	LOC130009490, LOC130009491 +416 more	Copy number gain	See cases	GPathogenic
Select item 146898	GRCh38/hg38 13q12.11(chr13:19503409-20005117)x3	LOC130009290, LOC130009291 +22 more	Copy number gain	See cases	GUncertain significance
Select item 147859	GRCh38/hg38 13q12.11(chr13:19632400-20005117)x3	LOC130009295, LOC130009296 +15 more	Copy number gain	See cases	GUncertain significance
Select item 155130	GRCh38/hg38 13q12.11-12.13(chr13:19671934-24985872)x1	ATP12A, C1QTNF9 +181 more	Copy number loss	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC132090185, LOC132090186 +621 more	Copy number gain	See cases	GPathogenic
Select item 151250	GRCh38/hg38 13q12.11(chr13:19818088-19947849)x3	LOC130009300, LOC130009301 +5 more	Copy number gain	See cases	GLikely benign
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 147997	GRCh38/hg38 13q12.11(chr13:19837395-21967789)x1	CRYL1, EEF1AKMT1 +84 more	Copy number loss	See cases	GUncertain significance
Select item 147957	GRCh38/hg38 13q12.11(chr13:19837395-19956562)x3	LOC130009300, LOC130009301 +5 more	Copy number gain	See cases	GBenign
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 154794	GRCh38/hg38 13q12.11(chr13:19841545-19871196)x3	LOC130009300, LOC130009301 +5 more	Copy number gain	See cases	GLikely benign
Select item 149733	GRCh38/hg38 13q12.11(chr13:19841545-19873832)x3	LOC130009300, LOC130009301 +5 more	Copy number gain	See cases	GLikely benign
Select item 146141	GRCh38/hg38 13q12.11(chr13:19844993-19871321)x3	LOC130009300, LOC130009301 +5 more	Copy number gain	See cases	GBenign
Select item 150958	GRCh38/hg38 13q12.11(chr13:19845210-19871196)x3	LOC130009300, LOC130009301 +5 more	Copy number gain	See cases	GLikely benign
Select item 148127	GRCh38/hg38 13q12.11(chr13:19851311-19871180)x3	LOC130009300, LOC130009301 +5 more	Copy number gain	See cases	GBenign
Select item 146055	GRCh38/hg38 13q12.11(chr13:19857140-20222070)x3	GJA3, GJB2 +21 more	Copy number gain	See cases	GUncertain significance
Select item 145365	GRCh38/hg38 13q12.11(chr13:19885283-22014498)x1	CRYL1, EEF1AKMT1 +79 more	Copy number loss	See cases	GPathogenic
Select item 157267	CM000675.1:g.20470071_20509959dup	ZMYM2	Duplication	Large for gestational age	Gnot provided
Select item 3057622	NM_197968.4(ZMYM2):c.-7C>T	ZMYM2	Single nucleotide variant (5 prime UTR variant +2 more)	ZMYM2-related disorder	GLikely benign
Select item 3356678	NM_197968.4(ZMYM2):c.17T>C (p.Val6Ala)	ZMYM2 (V28A +1 more)	Single nucleotide variant (missense variant +1 more)	ZMYM2-related disorder	GUncertain significance
Select item 3252306	NM_197968.4(ZMYM2):c.40C>G (p.Gln14Glu)	ZMYM2 (Q14E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2496065	NM_197968.4(ZMYM2):c.41A>C (p.Gln14Pro)	ZMYM2 (Q14P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2636847	NM_197968.4(ZMYM2):c.46C>A (p.Pro16Thr)	ZMYM2 (P16T +1 more)	Single nucleotide variant (missense variant +1 more)	ZMYM2-related disorder	GUncertain significance
Select item 3474006	NM_197968.4(ZMYM2):c.65C>T (p.Thr22Met)	ZMYM2 (T22M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3474012	NM_197968.4(ZMYM2):c.73G>A (p.Ala25Thr)	ZMYM2 (A47T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2511822	NM_197968.4(ZMYM2):c.115G>A (p.Ala39Thr)	ZMYM2 (A39T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2368768	NM_197968.4(ZMYM2):c.140A>G (p.Asn47Ser)	ZMYM2 (N47S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2407396	NM_197968.4(ZMYM2):c.155C>T (p.Ser52Leu)	ZMYM2 (S52L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3334806	NM_197968.4(ZMYM2):c.232G>A (p.Asp78Asn)	ZMYM2 (D100N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2613581	NM_197968.4(ZMYM2):c.244A>G (p.Ile82Val)	ZMYM2 (I104V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3367602	NM_197968.4(ZMYM2):c.263A>G (p.Lys88Arg)	ZMYM2 (K110R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2497925	NM_197968.4(ZMYM2):c.273A>T (p.Glu91Asp)	ZMYM2 (E113D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1709647	NM_197968.4(ZMYM2):c.275_278dup (p.Gln93fs)	ZMYM2 (Q115fs +1 more)	Duplication (frameshift variant +1 more)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities	GUncertain significance
Select item 771461	NM_197968.4(ZMYM2):c.276A>G (p.Leu92=)	ZMYM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2581699	NM_197968.4(ZMYM2):c.289T>G (p.Ser97Ala)	ZMYM2 (S119A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1804249	NM_197968.4(ZMYM2):c.332G>A (p.Gly111Glu)	ZMYM2 (G111E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1710427	NM_197968.4(ZMYM2):c.337del (p.Ser112_Val113insTer)	ZMYM2	Deletion (nonsense +1 more)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities	GLikely pathogenic
Select item 3039966	NM_197968.4(ZMYM2):c.369G>A (p.Glu123=)	ZMYM2	Single nucleotide variant (synonymous variant +1 more)	ZMYM2-related disorder	GLikely benign
Select item 3372495	NM_197968.4(ZMYM2):c.370G>A (p.Asp124Asn)	ZMYM2 (D124N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2497781	NM_197968.4(ZMYM2):c.371A>T (p.Asp124Val)	ZMYM2 (D124V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3390730	NM_197968.4(ZMYM2):c.377A>G (p.Glu126Gly)	ZMYM2 (E126G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2396225	NM_197968.4(ZMYM2):c.391C>T (p.Gln131Ter)	ZMYM2 (Q153* +1 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 3048386	NM_197968.4(ZMYM2):c.421C>T (p.Arg141Ter)	ZMYM2 (R141* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3193776	NM_197968.4(ZMYM2):c.437C>G (p.Thr146Ser)	ZMYM2 (T146S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 710811	NM_197968.4(ZMYM2):c.454G>C (p.Asp152His)	ZMYM2 (D152H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 3371584	NM_197968.4(ZMYM2):c.467C>T (p.Ser156Phe)	ZMYM2 (S156F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2352145	NM_197968.4(ZMYM2):c.569T>G (p.Leu190Ter)	ZMYM2 (L190*)	Single nucleotide variant (nonsense +2 more)	Inborn genetic diseases	GPathogenic
Select item 3474007	NM_197968.4(ZMYM2):c.596A>G (p.Asp199Gly)	ZMYM2 (D199G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1344767	NM_197968.4(ZMYM2):c.622C>T (p.Arg208Ter)	ZMYM2 (R208*)	Single nucleotide variant (nonsense +2 more)	Congenital anomaly of kidney and urinary tract	GLikely pathogenic
Select item 2635041	NM_197968.4(ZMYM2):c.628A>G (p.Met210Val)	ZMYM2 (M210V)	Single nucleotide variant (missense variant +2 more)	ZMYM2-related disorder	GUncertain significance
Select item 2269686	NM_197968.4(ZMYM2):c.638T>C (p.Met213Thr)	ZMYM2 (M213T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1800812	NM_197968.4(ZMYM2):c.640_641dup (p.Thr215fs)	ZMYM2 (T215fs)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
Select item 2523090	NM_197968.4(ZMYM2):c.695T>A (p.Leu232Gln)	ZMYM2 (L232Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3391720	NM_197968.4(ZMYM2):c.716T>G (p.Val239Gly)	ZMYM2 (V239G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2247079	NM_197968.4(ZMYM2):c.728C>T (p.Thr243Ile)	ZMYM2 (T243I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3369325	NM_197968.4(ZMYM2):c.764G>A (p.Gly255Glu)	ZMYM2 (G168E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1264314	NM_197968.4(ZMYM2):c.766_767dup (p.Val256_Gly257insTer)	ZMYM2	Duplication (frameshift variant +1 more)	Congenital anomaly of kidney and urinary tract +1 more	GPathogenic/Likely pathogenic
Select item 2637211	NM_197968.4(ZMYM2):c.799G>T (p.Ala267Ser)	ZMYM2 (A180S +2 more)	Single nucleotide variant (missense variant +1 more)	ZMYM2-related disorder	GUncertain significance
Select item 2477438	NM_197968.4(ZMYM2):c.910T>A (p.Leu304Ile)	ZMYM2 (L217I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3233750	NM_197968.4(ZMYM2):c.919G>A (p.Val307Met)	ZMYM2 (V220M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2637601	NM_197968.4(ZMYM2):c.950C>T (p.Pro317Leu)	ZMYM2 (P230L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286418	NM_197968.4(ZMYM2):c.953C>T (p.Ser318Phe)	ZMYM2 (S318F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1803263	NM_197968.4(ZMYM2):c.978del (p.Val327fs)	ZMYM2 (V240fs +2 more)	Deletion (frameshift variant +1 more)	Congenital anomaly of kidney and urinary tract	GPathogenic
Select item 1687427	NM_197968.4(ZMYM2):c.1008_1009insG (p.Pro337fs)	ZMYM2 (P250fs +2 more)	Insertion (frameshift variant +1 more)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities	GLikely pathogenic
Select item 1804385	NM_197968.4(ZMYM2):c.1009C>A (p.Pro337Thr)	ZMYM2 (P250T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2627843	NM_197968.4(ZMYM2):c.1013T>G (p.Leu338Ter)	ZMYM2 (L251* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Neurodevelopmental disorder	GPathogenic
Select item 1701910	NM_197968.4(ZMYM2):c.1020_1024dup (p.Gln342fs)	ZMYM2 (Q255fs +2 more)	Duplication (frameshift variant +1 more)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2226845	NM_197968.4(ZMYM2):c.1026_1027del (p.Gln342fs)	ZMYM2 (Q255fs +2 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 2506120	NM_197968.4(ZMYM2):c.1039C>T (p.Arg347Ter)	ZMYM2 (R260* +2 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities +1 more	GPathogenic/Likely pathogenic
Select item 2620406	NM_197968.4(ZMYM2):c.1057C>T (p.Leu353Phe)	ZMYM2 (L266F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3474005	NM_197968.4(ZMYM2):c.1072A>G (p.Thr358Ala)	ZMYM2 (T293A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2575740	NM_197968.4(ZMYM2):c.1088T>C (p.Phe363Ser)	ZMYM2 (F276S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1373966	NM_197968.4(ZMYM2):c.1095del (p.His365fs)	ZMYM2 (H365fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 3029199	NM_197968.4(ZMYM2):c.1111A>T (p.Lys371Ter)	ZMYM2 (K284* +2 more)	Single nucleotide variant (nonsense +1 more)	ZMYM2-related disorder	GLikely pathogenic
Select item 3075724	NM_197968.4(ZMYM2):c.1120_1121del (p.Val374fs)	ZMYM2 (V287fs +2 more)	Microsatellite (frameshift variant +1 more)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities	GPathogenic
Select item 2210008	NM_197968.4(ZMYM2):c.1129A>T (p.Lys377Ter)	ZMYM2 (K312* +2 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 2518350	NM_197968.4(ZMYM2):c.1171G>A (p.Val391Met)	ZMYM2 (V391M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 717358	NM_197968.4(ZMYM2):c.1173G>A (p.Val391=)	ZMYM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1344768	NM_197968.4(ZMYM2):c.1192C>T (p.Gln398Ter)	ZMYM2 (Q311* +2 more)	Single nucleotide variant (nonsense +1 more)	Congenital anomaly of kidney and urinary tract	GLikely pathogenic
Select item 690285	NM_197968.4(ZMYM2):c.1193A>G (p.Gln398Arg)	ZMYM2 (Q311R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2505678	NM_197968.4(ZMYM2):c.1208C>T (p.Thr403Ile)	ZMYM2 (T316I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3193765	NM_197968.4(ZMYM2):c.1211C>G (p.Ser404Cys)	ZMYM2 (S404C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3053833	NM_197968.4(ZMYM2):c.1212T>G (p.Ser404=)	ZMYM2	Single nucleotide variant (synonymous variant +1 more)	ZMYM2-related disorder	GLikely benign
Select item 784266	NM_197968.4(ZMYM2):c.1233C>T (p.Asp411=)	ZMYM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3334809	NM_197968.4(ZMYM2):c.1246A>G (p.Thr416Ala)	ZMYM2 (T351A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1700561	NM_197968.4(ZMYM2):c.1262A>G (p.Asn421Ser)	ZMYM2 (N334S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2497835	NM_197968.4(ZMYM2):c.1274G>A (p.Cys425Tyr)	ZMYM2 (C338Y +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1309049	NM_197968.4(ZMYM2):c.1299+1G>T	ZMYM2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance

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