BAG6[gene] - ClinVar

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Items: 57

	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 2464438	NM_001387994.1(BAG6):c.3458A>G (p.Asn1153Ser)	BAG6 (N1090S +23 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480279	NM_001387994.1(BAG6):c.3448C>T (p.Arg1150Cys)	BAG6 (R1046C +23 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 632584	NM_001387994.1(BAG6):c.3415C>T (p.Arg1139Ter)	BAG6 (R1103* +23 more)	Single nucleotide variant (nonsense)	Isolated unilateral hemispheric cerebellar hypoplasia +2 more	GUncertain significance
Select item 2656408	NM_001387994.1(BAG6):c.3409C>G (p.Gln1137Glu)	BAG6 (Q1033E +23 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3260283	NM_001387994.1(BAG6):c.3401C>G (p.Ser1134Cys)	BAG6 (S1049C +23 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267642	NM_001387994.1(BAG6):c.3347G>A (p.Ser1116Asn)	BAG6 (S1053N +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410112	NM_001387994.1(BAG6):c.3320G>A (p.Arg1107Gln)	BAG6 (R1079Q +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284140	NM_001387994.1(BAG6):c.3302C>T (p.Ala1101Val)	BAG6 (A1016V +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390205	NM_001387994.1(BAG6):c.3295C>T (p.Arg1099Trp)	BAG6 (R1037W +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 724730	NM_001387994.1(BAG6):c.3249G>A (p.Thr1083=)	BAG6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2294442	NM_001387994.1(BAG6):c.3226A>G (p.Met1076Val)	BAG6 (M1014V +16 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461878	NM_001387994.1(BAG6):c.3079C>T (p.Arg1027Trp)	BAG6 (R964W +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236154	NM_001387994.1(BAG6):c.2960T>A (p.Val987Asp)	BAG6 (V925D +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598180	NM_001387994.1(BAG6):c.2801G>A (p.Arg934His)	BAG6 (R907H +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326281	NM_001387994.1(BAG6):c.2792G>A (p.Arg931His)	BAG6 (R895H +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334481	NM_001387994.1(BAG6):c.2783G>A (p.Arg928Gln)	BAG6 (R866Q +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656409	NM_001387994.1(BAG6):c.2724C>G (p.Ala908=)	BAG6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 722584	NM_001387994.1(BAG6):c.2643G>A (p.Ala881=)	BAG6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3132834	NM_001387994.1(BAG6):c.2504G>A (p.Arg835Gln)	BAG6 (R773Q +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132833	NM_001387994.1(BAG6):c.2447G>T (p.Arg816Leu)	BAG6 (R654L +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656410	NM_001387994.1(BAG6):c.2160C>A (p.Gly720=)	BAG6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3132831	NM_001387994.1(BAG6):c.2084C>G (p.Pro695Arg)	BAG6 (P633R +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330257	NM_001387994.1(BAG6):c.2080C>T (p.Pro694Ser)	BAG6 (P694S +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132830	NM_001387994.1(BAG6):c.1784C>T (p.Pro595Leu)	BAG6 (P532L +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2656411	NM_001387994.1(BAG6):c.1743G>A (p.Gln581=)	BAG6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3132829	NM_001387994.1(BAG6):c.1367A>G (p.Gln456Arg)	BAG6 (Q456R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768074	NM_001387994.1(BAG6):c.1305G>A (p.Pro435=)	BAG6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3260285	NM_001387994.1(BAG6):c.1304C>T (p.Pro435Leu)	BAG6 (P417L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224724	NM_001387994.1(BAG6):c.1163C>A (p.Pro388His)	BAG6 (P370H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132828	NM_001387994.1(BAG6):c.1159C>T (p.Arg387Trp)	BAG6 (R369W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132826	NM_001387994.1(BAG6):c.1063A>G (p.Met355Val)	BAG6 (M337V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280472	NM_001387994.1(BAG6):c.1018A>G (p.Asn340Asp)	BAG6 (N340D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715339	NM_001387994.1(BAG6):c.921C>T (p.His307=)	BAG6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3260284	NM_001387994.1(BAG6):c.845G>A (p.Ser282Asn)	BAG6 (S264N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132840	NM_001387994.1(BAG6):c.836G>A (p.Arg279Gln)	BAG6 (R279Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472190	NM_001387994.1(BAG6):c.782C>T (p.Ala261Val)	BAG6 (A243V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132839	NM_001387994.1(BAG6):c.770C>T (p.Pro257Leu)	BAG6 (P239L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132838	NM_001387994.1(BAG6):c.734C>T (p.Thr245Ile)	BAG6 (T245I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366058	NM_001387994.1(BAG6):c.724C>T (p.Pro242Ser)	BAG6 (P242S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347868	NM_001387994.1(BAG6):c.587C>T (p.Pro196Leu)	BAG6 (P178L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352148	NM_001387994.1(BAG6):c.515T>C (p.Met172Thr)	BAG6 (M172T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330618	NM_001387994.1(BAG6):c.430G>A (p.Gly144Ser)	BAG6 (G144S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132836	NM_001387994.1(BAG6):c.343C>A (p.Pro115Thr)	BAG6 (P115T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335516	NM_001387994.1(BAG6):c.335G>T (p.Gly112Val)	BAG6 (G112V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719435	NM_001387994.1(BAG6):c.249C>T (p.His83=)	BAG6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2488500	NM_001387994.1(BAG6):c.154A>G (p.Ile52Val)	BAG6 (I52V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132827	NM_001387994.1(BAG6):c.110T>C (p.Met37Thr)	BAG6 (M37T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786083	NM_001387994.1(BAG6):c.6G>A (p.Glu2=)	BAG6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 2424220	NC_000006.11:g.(?_30695893)_(31937492_?)dup	ABHD16A, AIF1 +63 more	Duplication	not provided	GUncertain significance
Select item 1527232	GRCh37/hg19 6p21.33(chr6:31384577-31902308)	ABHD16A, AIF1 +40 more	Copy number gain	not specified	GUncertain significance
Select item 974733	NC_000006.11:g.28005012_31683185del	ABCF1, ABHD16A +106 more	Deletion	Megacolon	GLikely pathogenic
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 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

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Items: 57