17052[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 149262	GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3	ABRAXAS1, ADAMTS3 +331 more	Copy number gain	See cases	GPathogenic
Select item 57143	GRCh38/hg38 4q21.1-21.23(chr4:75453111-84094295)x1	LOC129992714, LOC129992715 +236 more	Copy number loss	See cases	GPathogenic
Select item 2579270	GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1	ABCG2, ABRAXAS1 +338 more	Copy number loss	Chromosome 4q21 deletion syndrome	GPathogenic
Select item 59455	GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1	ABCG2, ABRAXAS1 +251 more	Copy number loss	See cases	GPathogenic
Select item 146518	GRCh38/hg38 4q21.21-21.22(chr4:79742612-83153725)x1	ANTXR2, BMP3 +83 more	Copy number loss	See cases	GUncertain significance
Select item 147709	GRCh38/hg38 4q21.21-21.23(chr4:79786514-85832807)x1	BMP3, CDS1 +137 more	Copy number loss	See cases	GPathogenic
Select item 151718	GRCh38/hg38 4q21.21-21.3(chr4:80043949-86948317)x1	ABRAXAS1, AFF1 +146 more	Copy number loss	See cases	GPathogenic
Select item 148194	GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1	ABCG2, ABRAXAS1 +335 more	Copy number loss	See cases	GPathogenic
Select item 145649	GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1	ABCG2, ABRAXAS1 +244 more	Copy number loss	See cases	GPathogenic
Select item 148797	GRCh38/hg38 4q21.21-21.23(chr4:80908016-84329610)x1	ABRAXAS1, BMP3 +90 more	Copy number loss	See cases	GLikely pathogenic
Select item 59456	GRCh38/hg38 4q21.21-21.23(chr4:81061483-83332595)x1	COPS4, COQ2 +68 more	Copy number loss	See cases	GPathogenic
Select item 155254	GRCh38/hg38 4q21.22-21.23(chr4:81675848-83970410)x1	ABRAXAS1, COPS4 +74 more	Copy number loss	See cases	GLikely pathogenic
Select item 59457	GRCh38/hg38 4q21.22-21.23(chr4:81733333-83448842)x1	COPS4, COQ2 +60 more	Copy number loss	See cases	GPathogenic
Select item 59458	GRCh38/hg38 4q21.22-21.23(chr4:81802008-83437114)x1	COPS4, COQ2 +60 more	Copy number loss	See cases	GPathogenic
Select item 2490900	NM_001077207.4(SEC31A):c.3647A>G (p.Asn1216Ser)	SEC31A (N1188S +25 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159357	NM_001077207.4(SEC31A):c.3502A>G (p.Ser1168Gly)	SEC31A (S1015G +25 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159356	NM_001077207.4(SEC31A):c.3390C>G (p.Cys1130Trp)	SEC31A (C1091W +21 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398916	NM_001077207.4(SEC31A):c.3376C>G (p.Leu1126Val)	SEC31A (L1012V +21 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607393	NM_001077207.4(SEC31A):c.3329A>C (p.Lys1110Thr)	SEC31A (K1056T +21 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299343	NM_001077207.4(SEC31A):c.3311C>T (p.Thr1104Ile)	SEC31A (T1089I +21 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250339	NM_001077207.4(SEC31A):c.3308C>T (p.Pro1103Leu)	SEC31A (P1103L +21 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613562	NM_001077207.4(SEC31A):c.3255A>C (p.Glu1085Asp)	SEC31A (E1031D +21 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 758156	NM_001077207.4(SEC31A):c.3246C>T (p.Pro1082=)	SEC31A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025368	NM_001077207.4(SEC31A):c.3196G>A (p.Val1066Ile)	SEC31A (V1012I +21 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3159355	NM_001077207.4(SEC31A):c.3128C>T (p.Pro1043Leu)	SEC31A (P1028L +21 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775992	NM_001077207.4(SEC31A):c.3092C>T (p.Pro1031Leu)	SEC31A (P1016L +6 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3159354	NM_001077207.4(SEC31A):c.3028A>G (p.Met1010Val)	SEC31A (M1005V +21 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044225	NM_001077207.4(SEC31A):c.2968+1G>T	SEC31A	Single nucleotide variant (splice donor variant +1 more)	SEC31A-related disorder	GLikely benign
Select item 2223685	NM_001077207.4(SEC31A):c.2917A>G (p.Thr973Ala)	SEC31A (T1004A +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400548	NM_001077207.4(SEC31A):c.2909C>G (p.Pro970Arg)	SEC31A (P970R +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2654847	NM_001077207.4(SEC31A):c.2874A>G (p.Pro958=)	SEC31A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2654848	NM_001077207.4(SEC31A):c.2868C>T (p.Gly956=)	SEC31A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2637544	NM_001077207.4(SEC31A):c.2833C>T (p.Pro945Ser)	SEC31A (P787S +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 694295	NM_001077207.4(SEC31A):c.2776_2777dup (p.Ala927fs)	SEC31A (A922fs +2 more)	Duplication (frameshift variant +1 more)	Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies	GPathogenic
Select item 2351191	NM_001077207.4(SEC31A):c.2656G>A (p.Gly886Arg)	SEC31A (G728R +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159353	NM_001077207.4(SEC31A):c.2653T>G (p.Phe885Val)	SEC31A (F880V +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159352	NM_001077207.4(SEC31A):c.2606C>T (p.Pro869Leu)	SEC31A (P830L +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383965	NM_001077207.4(SEC31A):c.2533A>G (p.Met845Val)	SEC31A (M687V +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780930	NM_001077207.4(SEC31A):c.2522C>T (p.Pro841Leu)	SEC31A (P802L +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2398029	NM_001077207.4(SEC31A):c.2518C>T (p.Pro840Ser)	SEC31A (P814S +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284016	NM_001077207.4(SEC31A):c.2513C>G (p.Pro838Arg)	SEC31A (P799R +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1332930	NM_001077207.4(SEC31A):c.2503-29C>A	SEC31A	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies +1 more	GBenign
Select item 2558104	NM_001077207.4(SEC31A):c.2432A>G (p.Lys811Arg)	SEC31A (K798R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317151	NM_001077207.4(SEC31A):c.2428C>T (p.Pro810Ser)	SEC31A (P797S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159351	NM_001077207.4(SEC31A):c.2413G>A (p.Glu805Lys)	SEC31A (E712K +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260144	NM_001077207.4(SEC31A):c.2389C>T (p.His797Tyr)	SEC31A (H792Y +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159350	NM_001077207.4(SEC31A):c.2375A>G (p.Glu792Gly)	SEC31A (E634G +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317149	NM_001077207.4(SEC31A):c.2348G>A (p.Arg783His)	SEC31A (R757H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159349	NM_001077207.4(SEC31A):c.2347C>T (p.Arg783Cys)	SEC31A (R690C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159348	NM_001077207.4(SEC31A):c.2332A>T (p.Asn778Tyr)	SEC31A (N685Y +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654849	NM_001077207.4(SEC31A):c.2265T>C (p.Asn755=)	SEC31A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3159347	NM_001077207.4(SEC31A):c.2216C>G (p.Thr739Ser)	SEC31A (T581S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159346	NM_001077207.4(SEC31A):c.2155G>T (p.Asp719Tyr)	SEC31A (D561Y +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1332931	NM_001077207.4(SEC31A):c.2154+36G>C	SEC31A	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies +1 more	GBenign
Select item 2516570	NM_001077207.4(SEC31A):c.2141C>T (p.Pro714Leu)	SEC31A (P621L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539439	NM_001077207.4(SEC31A):c.2126A>G (p.Gln709Arg)	SEC31A (Q551R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159345	NM_001077207.4(SEC31A):c.1997C>T (p.Ser666Leu)	SEC31A (S666L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654850	NM_001077207.4(SEC31A):c.1986G>A (p.Pro662=)	SEC31A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2383978	NM_001077207.4(SEC31A):c.1985C>T (p.Pro662Leu)	SEC31A (P569L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775993	NM_001077207.4(SEC31A):c.1977T>C (p.Tyr659=)	SEC31A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2654851	NM_001077207.4(SEC31A):c.1890T>C (p.Thr630=)	SEC31A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2264009	NM_001077207.4(SEC31A):c.1877C>G (p.Thr626Ser)	SEC31A (T468S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159344	NM_001077207.4(SEC31A):c.1850A>G (p.Tyr617Cys)	SEC31A (Y524C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527422	NM_001077207.4(SEC31A):c.1844A>G (p.Lys615Arg)	SEC31A (K522R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159343	NM_001077207.4(SEC31A):c.1830G>T (p.Leu610Phe)	SEC31A (L584F +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351063	NM_001077207.4(SEC31A):c.1804G>A (p.Ala602Thr)	SEC31A (A509T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472860	NM_001077207.4(SEC31A):c.1742A>G (p.Asn581Ser)	SEC31A (N488S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317154	NM_001077207.4(SEC31A):c.1639G>A (p.Glu547Lys)	SEC31A (E389K +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261857	NM_001077207.4(SEC31A):c.1609G>C (p.Glu537Gln)	SEC31A (E379Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1703168	NM_001077207.4(SEC31A):c.1457G>A (p.Arg486His)	SEC31A (R328H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3159341	NM_001077207.4(SEC31A):c.1423T>G (p.Ser475Ala)	SEC31A (S317A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1028501	NM_001077207.4(SEC31A):c.1374C>G (p.Cys458Trp)	SEC31A (C453W +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies	GUncertain significance
Select item 2654852	NM_001077207.4(SEC31A):c.1368T>G (p.Asn456Lys)	SEC31A (N298K +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2476850	NM_001077207.4(SEC31A):c.1349A>G (p.Gln450Arg)	SEC31A (Q292R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520501	NM_001077207.4(SEC31A):c.1322G>A (p.Arg441Gln)	SEC31A (R436Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537931	NM_001077207.4(SEC31A):c.1189T>G (p.Ser397Ala)	SEC31A (S239A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592045	NM_001077207.4(SEC31A):c.1136T>C (p.Ile379Thr)	SEC31A (I221T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159340	NM_001077207.4(SEC31A):c.1135A>G (p.Ile379Val)	SEC31A (I221V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317148	NM_001077207.4(SEC31A):c.1082C>T (p.Thr361Ile)	SEC31A (T356I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1332932	NM_001077207.4(SEC31A):c.1045-26G>T	SEC31A	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies +1 more	GBenign
Select item 3159338	NM_001077207.4(SEC31A):c.1033C>G (p.Gln345Glu)	SEC31A (Q291E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351062	NM_001077207.4(SEC31A):c.1010G>A (p.Ser337Asn)	SEC31A (S337N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1332933	NM_001077207.4(SEC31A):c.1008T>A (p.Gly336=)	SEC31A	Single nucleotide variant (synonymous variant +1 more)	Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies +1 more	GBenign
Select item 3159358	NM_001077207.4(SEC31A):c.997A>G (p.Ile333Val)	SEC31A (I328V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390080	NM_001077207.4(SEC31A):c.973G>A (p.Asp325Asn)	SEC31A (D167N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263108	NM_001077207.4(SEC31A):c.957A>T (p.Leu319Phe)	SEC31A (L265F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063672	NM_001077207.4(SEC31A):c.944del (p.Asn315fs)	SEC31A (N157fs +3 more)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 3046435	NM_001077207.4(SEC31A):c.908C>A (p.Thr303Lys)	SEC31A (T145K +3 more)	Single nucleotide variant (missense variant)	SEC31A-related disorder	GLikely benign
Select item 2622937	NM_001077207.4(SEC31A):c.823T>A (p.Leu275Met)	SEC31A (L270M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722936	NM_001077207.4(SEC31A):c.787A>G (p.Ile263Val)	SEC31A (I258V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3317152	NM_001077207.4(SEC31A):c.708C>A (p.Asp236Glu)	SEC31A (D236E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654853	NM_001077207.4(SEC31A):c.699C>T (p.Ser233=)	SEC31A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1332934	NM_001077207.4(SEC31A):c.640-4T>G	SEC31A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2382480	NM_001077207.4(SEC31A):c.603T>G (p.Asn201Lys)	SEC31A (N147K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1332935	NM_001077207.4(SEC31A):c.597A>G (p.Arg199=)	SEC31A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2510939	NM_001077207.4(SEC31A):c.583G>T (p.Val195Leu)	SEC31A (V195L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317150	NM_001077207.4(SEC31A):c.581C>T (p.Thr194Ile)	SEC31A (T194I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2637516	NM_001077207.4(SEC31A):c.511A>G (p.Ile171Val)	SEC31A (I117V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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