ATF6B[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 2272883	NM_004381.5(ATF6B):c.2087A>T (p.Gln696Leu)	ATF6B (Q693L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327332	NM_004381.5(ATF6B):c.2060C>A (p.Ala687Asp)	ATF6B (A687D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524218	NM_004381.5(ATF6B):c.1898G>A (p.Arg633His)	ATF6B (R633H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771155	NM_004381.5(ATF6B):c.1802A>T (p.His601Leu)	ATF6B (H598L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2290555	NM_004381.5(ATF6B):c.1763G>A (p.Arg588Gln)	ATF6B (R588Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261838	NM_004381.5(ATF6B):c.1760G>A (p.Arg587Gln)	ATF6B (R584Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274489	NM_004381.5(ATF6B):c.1714C>T (p.Arg572Cys)	ATF6B (R572C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510139	NM_004381.5(ATF6B):c.1627C>T (p.Arg543Trp)	ATF6B (R540W +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 792036	NM_004381.5(ATF6B):c.1614+8G>A	ATF6B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2469689	NM_004381.5(ATF6B):c.1559T>C (p.Val520Ala)	ATF6B (V517A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516700	NM_004381.5(ATF6B):c.1543G>A (p.Glu515Lys)	ATF6B (E512K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269883	NM_004381.5(ATF6B):c.1397C>T (p.Pro466Leu)	ATF6B (P463L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3130812	NM_004381.5(ATF6B):c.1367G>A (p.Gly456Glu)	ATF6B (G456E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2272034	NM_004381.5(ATF6B):c.1363C>A (p.Gln455Lys)	ATF6B (Q455K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229846	NM_004381.5(ATF6B):c.1351G>A (p.Val451Ile)	ATF6B (V448I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482852	NM_004381.5(ATF6B):c.1318C>G (p.Leu440Val)	ATF6B (L437V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372023	NM_004381.5(ATF6B):c.1265C>T (p.Ala422Val)	ATF6B (A419V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599603	NM_004381.5(ATF6B):c.1249A>G (p.Ser417Gly)	ATF6B (S417G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320540	NM_004381.5(ATF6B):c.1130G>A (p.Arg377Gln)	ATF6B, LOC123620085 (R374Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2553013	NM_004381.5(ATF6B):c.1007G>A (p.Arg336Gln)	ATF6B, LOC123620085 (R336Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130817	NM_004381.5(ATF6B):c.958G>C (p.Glu320Gln)	ATF6B (E317Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538240	NM_004381.5(ATF6B):c.919A>C (p.Ile307Leu)	ATF6B (I307L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510141	NM_004381.5(ATF6B):c.879A>C (p.Glu293Asp)	ATF6B (E293D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381256	NM_004381.5(ATF6B):c.724C>T (p.Pro242Ser)	ATF6B (P242S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320529	NM_004381.5(ATF6B):c.718C>T (p.Arg240Trp)	ATF6B (R237W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260789	NM_004381.5(ATF6B):c.689A>G (p.Asp230Gly)	ATF6B (D227G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530470	NM_004381.5(ATF6B):c.470A>G (p.Asp157Gly)	ATF6B (D157G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316380	NM_004381.5(ATF6B):c.451G>T (p.Val151Phe)	ATF6B (V151F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260788	NM_004381.5(ATF6B):c.451G>A (p.Val151Ile)	ATF6B (V151I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488499	NM_004381.5(ATF6B):c.437C>A (p.Thr146Asn)	ATF6B (T146N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236248	NM_004381.5(ATF6B):c.355G>A (p.Gly119Arg)	ATF6B (G116R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510140	NM_004381.5(ATF6B):c.214T>C (p.Ser72Pro)	ATF6B (S69P +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2246793	NM_004381.5(ATF6B):c.184T>C (p.Ser62Pro)	ATF6B (S59P +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2548517	NM_004381.5(ATF6B):c.164A>T (p.Asp55Val)	ATF6B (D52V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367251	NM_004381.5(ATF6B):c.154C>T (p.Pro52Ser)	ATF6B (P49S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130814	NM_004381.5(ATF6B):c.148C>G (p.Arg50Gly)	ATF6B (R50G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130816	NM_004381.5(ATF6B):c.85C>T (p.Leu29=)	ATF6B	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2237102	NM_004381.5(ATF6B):c.68G>T (p.Ser23Ile)	ATF6B (S23I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368564	NM_004381.5(ATF6B):c.31G>A (p.Ala11Thr)	ATF6B (A11T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556005	NM_004381.5(ATF6B):c.5C>T (p.Ala2Val)	ATF6B (A2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 1527233	GRCh37/hg19 6p21.33-21.32(chr6:31952482-32243155)	AGER, AGPAT1 +13 more	Copy number gain	not specified	GUncertain significance
Select item 814808	GRCh37/hg19 6p21.33-21.32(chr6:31916915-32278000)x3	AGER, AGPAT1 +19 more	Copy number gain	not provided	GUncertain significance
Select item 814807	GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3	ABHD16A, AGER +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 686165	GRCh37/hg19 6p21.33-21.32(chr6:32027371-32448599)x3	AGER, AGPAT1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 394634	GRCh37/hg19 6p21.33(chr6:32088893-32098036)x3	ATF6B, FKBPL	Copy number gain	See cases	GLikely benign
Select item 253700	GRCh37/hg19 6p21.33-21.32(chr6:32052479-32184403)x3	AGER, AGPAT1 +10 more	Copy number gain	See cases	GUncertain significance

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Items: 51