23265[geneid] - ClinVar

Search results

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 3191711	NM_180990.4(ZACN):c.745G>A (p.Val249Met)	EXOC7, ZACN (V249M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2383539	NM_180990.4(ZACN):c.769C>T (p.Arg257Trp)	EXOC7, ZACN (R257W)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2516982	NM_180990.4(ZACN):c.820G>A (p.Val274Ile)	EXOC7, ZACN (V274I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3191712	NM_180990.4(ZACN):c.959G>A (p.Arg320Gln)	EXOC7, ZACN (R320Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2369431	NM_180990.4(ZACN):c.982G>A (p.Gly328Ser)	EXOC7, ZACN (G328S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2361329	NM_180990.4(ZACN):c.983G>T (p.Gly328Val)	EXOC7, ZACN (G328V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1701750	NM_180990.4(ZACN):c.1021G>A (p.Gly341Ser)	EXOC7, ZACN (G341S)	Single nucleotide variant (3 prime UTR variant +1 more)	Neurodevelopmental disorder with seizures and brain atrophy	GUncertain significance
Select item 2469711	NM_180990.4(ZACN):c.1026C>A (p.Asn342Lys)	EXOC7, ZACN (N342K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3191705	NM_180990.4(ZACN):c.1138T>C (p.Cys380Arg)	EXOC7, ZACN (C380R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3191706	NM_180990.4(ZACN):c.1193C>G (p.Ala398Gly)	EXOC7, ZACN (A398G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2266772	NM_180990.4(ZACN):c.1204G>A (p.Glu402Lys)	EXOC7, ZACN (E402K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2269298	NM_001013839.4(EXOC7):c.2033G>A (p.Arg678His)	EXOC7 (R650H +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091156	NM_001013839.4(EXOC7):c.2020G>A (p.Asp674Asn)	EXOC7 (D725N +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091155	NM_001013839.4(EXOC7):c.2009A>G (p.Glu670Gly)	EXOC7 (E670G +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091154	NM_001013839.4(EXOC7):c.1909C>G (p.Gln637Glu)	EXOC7 (Q606E +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553587	NM_001013839.4(EXOC7):c.1879A>G (p.Thr627Ala)	EXOC7 (T596A +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2648290	NM_001013839.4(EXOC7):c.1818+7C>T	EXOC7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2230503	NM_001013839.4(EXOC7):c.1811G>A (p.Arg604His)	EXOC7 (R604H +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1804960	NM_001013839.4(EXOC7):c.1776+1G>A	EXOC7	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with seizures and brain atrophy	GUncertain significance
Select item 2520522	NM_001013839.4(EXOC7):c.1673G>A (p.Arg558Gln)	EXOC7 (R550Q +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091153	NM_001013839.4(EXOC7):c.1667C>A (p.Ser556Tyr)	EXOC7 (S528Y +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1494670	NM_001013839.4(EXOC7):c.1666T>C (p.Ser556Pro)	EXOC7 (S556P +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1341747	NM_001013839.4(EXOC7):c.1664G>A (p.Arg555His)	EXOC7 (R524H +8 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with seizures and brain atrophy +1 more	GUncertain significance
Select item 2298165	NM_001013839.4(EXOC7):c.1629C>G (p.Ile543Met)	EXOC7 (I512M +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 983548	NM_001013839.4(EXOC7):c.1567G>A (p.Ala523Thr)	EXOC7 (A523T +8 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with seizures and brain atrophy	GPathogenic
Select item 2648291	NM_001013839.4(EXOC7):c.1548C>T (p.Tyr516=)	EXOC7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2280586	NM_001013839.4(EXOC7):c.1524C>G (p.Asn508Lys)	EXOC7 (N480K +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326730	NM_001013839.4(EXOC7):c.1489T>A (p.Tyr497Asn)	EXOC7 (Y533N +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 775337	NM_001013839.4(EXOC7):c.1482A>G (p.Leu494=)	EXOC7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2648292	NM_001013839.4(EXOC7):c.1410C>T (p.Gly470=)	EXOC7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648293	NM_001013839.4(EXOC7):c.1404G>A (p.Thr468=)	EXOC7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3091152	NM_001013839.4(EXOC7):c.1403C>T (p.Thr468Met)	EXOC7 (T427M +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294564	NM_001013839.4(EXOC7):c.1177C>G (p.Pro393Ala)	EXOC7 (P393A +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1325501	NM_001013839.4(EXOC7):c.1169A>T (p.Gln390Leu)	EXOC7 (Q349L +5 more)	Single nucleotide variant (missense variant)	See cases +1 more	GUncertain significance
Select item 2523344	NM_001013839.4(EXOC7):c.1161C>G (p.His387Gln)	EXOC7 (H379Q +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226040	NM_001013839.4(EXOC7):c.1159C>T (p.His387Tyr)	EXOC7 (H379Y +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219152	NM_001013839.4(EXOC7):c.1150A>G (p.Ile384Val)	EXOC7 (I353V +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 983546	NM_001013839.4(EXOC7):c.1059_1073del (p.Asp353_Leu357del)	EXOC7	Deletion (inframe_deletion)	Neurodevelopmental disorder with seizures and brain atrophy	GPathogenic
Select item 2254016	NM_001013839.4(EXOC7):c.1028C>T (p.Thr343Ile)	EXOC7 (T302I +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513616	NM_001013839.4(EXOC7):c.999C>A (p.Asp333Glu)	EXOC7 (D325E +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091150	NM_001013839.4(EXOC7):c.997G>A (p.Asp333Asn)	EXOC7 (D325N +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343918	NM_001013839.4(EXOC7):c.977G>C (p.Ser326Thr)	EXOC7 (S326T +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GBenign
Select item 1675691	NM_001013839.4(EXOC7):c.948C>T (p.Cys316=)	EXOC7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648294	NM_001013839.4(EXOC7):c.930C>T (p.Thr310=)	EXOC7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2471781	NM_001013839.4(EXOC7):c.922G>A (p.Val308Met)	EXOC7 (V267M +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2648295	NM_001013839.4(EXOC7):c.901+792C>T	EXOC7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3091164	NM_001013839.4(EXOC7):c.901+740C>T	EXOC7 (S327L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2477053	NM_001013839.4(EXOC7):c.901+733G>A	EXOC7 (D325N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2376771	NM_001013839.4(EXOC7):c.901+728C>T	EXOC7 (A323V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2607366	NM_001013839.4(EXOC7):c.901+725G>A	EXOC7 (C322Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2692469	NM_001013839.4(EXOC7):c.901+701C>G	EXOC7 (P314R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2222676	NM_001013839.4(EXOC7):c.901+656A>G	EXOC7	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 3091163	NM_001013839.4(EXOC7):c.878G>C (p.Gly293Ala)	EXOC7 (G252A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2228002	NM_001013839.4(EXOC7):c.817C>T (p.Arg273Cys)	EXOC7 (R273C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 983545	NM_001013839.4(EXOC7):c.809-2A>G	EXOC7	Single nucleotide variant (intron variant +1 more)	Neurodevelopmental disorder with seizures and brain atrophy	GPathogenic
Select item 3091162	NM_001013839.4(EXOC7):c.761C>A (p.Pro254His)	EXOC7 (P213H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341334	NM_001013839.4(EXOC7):c.724A>G (p.Ser242Gly)	EXOC7 (S201G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226722	NM_001013839.4(EXOC7):c.647T>C (p.Met216Thr)	EXOC7 (M175T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091161	NM_001013839.4(EXOC7):c.638A>C (p.Gln213Pro)	EXOC7 (Q172P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222733	NM_001013839.4(EXOC7):c.610C>T (p.Arg204Cys)	EXOC7 (R204C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091160	NM_001013839.4(EXOC7):c.601C>A (p.Arg201Ser)	EXOC7 (R160S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2648296	NM_001013839.4(EXOC7):c.583G>A (p.Val195Met)	EXOC7 (V154M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2227248	NM_001013839.4(EXOC7):c.560C>A (p.Thr187Asn)	EXOC7 (T146N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2648297	NM_001013839.4(EXOC7):c.555C>T (p.Asp185=)	EXOC7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2692468	NM_001013839.4(EXOC7):c.514G>T (p.Asp172Tyr)	EXOC7 (D131Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648298	NM_001013839.4(EXOC7):c.492C>T (p.Val164=)	EXOC7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2228772	NM_001013839.4(EXOC7):c.481C>T (p.His161Tyr)	EXOC7 (H120Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091159	NM_001013839.4(EXOC7):c.478C>T (p.Arg160Trp)	EXOC7 (R119W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389549	NM_001013839.4(EXOC7):c.476C>T (p.Thr159Met)	EXOC7 (T118M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261663	NM_001013839.4(EXOC7):c.442G>A (p.Glu148Lys)	EXOC7 (E148K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091158	NM_001013839.4(EXOC7):c.433C>T (p.Arg145Cys)	EXOC7 (R104C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1690421	NM_001013839.4(EXOC7):c.417+41C>G	EXOC7 (S153*)	Single nucleotide variant (nonsense +1 more)	See cases +2 more	GBenign
Select item 2648299	NM_001013839.4(EXOC7):c.402G>A (p.Pro134=)	EXOC7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3091157	NM_001013839.4(EXOC7):c.389G>A (p.Ser130Asn)	EXOC7 (S130N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1335296	NM_001013839.4(EXOC7):c.257A>T (p.His86Leu)	EXOC7 (H45L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2227713	NM_001013839.4(EXOC7):c.228T>A (p.Asn76Lys)	EXOC7 (N76K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217787	NM_001013839.4(EXOC7):c.206A>G (p.Asn69Ser)	EXOC7 (N69S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091151	NM_001013839.4(EXOC7):c.143C>A (p.Ser48Tyr)	EXOC7 (S7Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 983547	NM_001013839.4(EXOC7):c.138ATC[1] (p.Ser48del)	EXOC7 (S48del +1 more)	Microsatellite (inframe_deletion)	Neurodevelopmental disorder with seizures and brain atrophy	GPathogenic
Select item 2684857	GRCh37/hg19 17q25.1(chr17:74056941-74313663)x3	EXOC7, FOXJ1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 2578017	GRCh37/hg19 17q25.1(chr17:72718277-74142256)	ACOX1, ARMC7 +52 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	AFMID, LRRC45 +146 more	Copy number gain	not provided	GPathogenic
Select item 815953	GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3	AANAT, ACOX1 +84 more	Copy number gain	not provided	GPathogenic
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 more	Copy number gain	not provided	GLikely pathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443446	GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3	AANAT, AATK +128 more	Copy number gain	See cases	GPathogenic
Select item 443013	GRCh37/hg19 17q25.1-25.2(chr17:73992637-75099218)x4	AANAT, CDK3 +25 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 253996	GRCh37/hg19 17q25.1(chr17:73870412-74160099)x3	SRP68, TRIM65 +12 more	Copy number gain	See cases	GUncertain significance

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Items: 95