KRTAP5-1[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	LOC130005128, LOC130005129 +723 more	Copy number gain	See cases	GPathogenic
Select item 154856	GRCh38/hg38 11p15.5(chr11:196855-2116185)x3	LOC130005123, LOC130005124 +204 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	LOC106799843, LOC106865369 +388 more	Copy number gain	See cases	GPathogenic
Select item 57274	GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3	LOC106783508, LOC106799843 +271 more	Copy number gain	See cases	GPathogenic
Select item 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	ANO9, AP2A2 +332 more	Copy number gain	See cases	GPathogenic
Select item 59748	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	ANO9, AP2A2 +266 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	A-GAMMA3'E, ABCC8 +917 more	Copy number gain	See cases	GPathogenic
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	BGLT3, A-GAMMA3'E +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic
Select item 58855	GRCh38/hg38 11p15.5(chr11:758848-1998025)x1	AP2A2, BRSK2 +115 more	Copy number loss	See cases	GPathogenic
Select item 154397	GRCh38/hg38 11p15.5-15.4(chr11:1132899-3213923)x1	KRTAP5-6, KRTAP5-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 147689	GRCh38/hg38 11p15.5-15.4(chr11:1537379-3360769)x3	ASCL2, C11orf21 +115 more	Copy number gain	See cases	GPathogenic
Select item 2404336	NM_001005922.1(KRTAP5-1):c.691G>A (p.Gly231Arg)	KRTAP5-AS1, KRTAP5-1 (G231R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344354	NM_001005922.1(KRTAP5-1):c.671C>T (p.Ala224Val)	KRTAP5-AS1, KRTAP5-1 (A224V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222759	NM_001005922.1(KRTAP5-1):c.670G>A (p.Ala224Thr)	KRTAP5-AS1, KRTAP5-1 (A224T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206196	NM_001005922.1(KRTAP5-1):c.670G>T (p.Ala224Ser)	KRTAP5-AS1, KRTAP5-1 (A224S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363037	NM_001005922.1(KRTAP5-1):c.655A>G (p.Ser219Gly)	KRTAP5-1, KRTAP5-AS1 (S219G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523420	NM_001005922.1(KRTAP5-1):c.575G>T (p.Gly192Val)	KRTAP5-1, KRTAP5-AS1 (G192V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480090	NM_001005922.1(KRTAP5-1):c.562G>A (p.Gly188Ser)	KRTAP5-1, KRTAP5-AS1 (G188S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543410	NM_001005922.1(KRTAP5-1):c.469T>C (p.Cys157Arg)	KRTAP5-1, KRTAP5-AS1 (C157R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612241	NM_001005922.1(KRTAP5-1):c.388T>C (p.Cys130Arg)	KRTAP5-1, KRTAP5-AS1 (Q11R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229907	NM_001005922.1(KRTAP5-1):c.364G>A (p.Gly122Ser)	KRTAP5-AS1, KRTAP5-1 (G122S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281517	NM_001005922.1(KRTAP5-1):c.263G>A (p.Gly88Asp)	KRTAP5-1, KRTAP5-AS1 (G88D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2618640	NM_001005922.1(KRTAP5-1):c.229G>C (p.Gly77Arg)	KRTAP5-1, KRTAP5-AS1 (P64A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350059	NM_001005922.1(KRTAP5-1):c.206G>A (p.Cys69Tyr)	KRTAP5-1, KRTAP5-AS1 (C69Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2343841	NM_001005922.1(KRTAP5-1):c.164G>A (p.Arg55His)	KRTAP5-1, KRTAP5-AS1 (R55H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2614473	NM_001005922.1(KRTAP5-1):c.155T>G (p.Val52Gly)	KRTAP5-1, KRTAP5-AS1 (V52G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2379534	NM_001005922.1(KRTAP5-1):c.136G>A (p.Val46Ile)	KRTAP5-1, KRTAP5-AS1 (R95W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230226	NM_001005922.1(KRTAP5-1):c.104G>A (p.Cys35Tyr)	KRTAP5-1, KRTAP5-AS1 (C35Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2641347	NM_001005922.1(KRTAP5-1):c.57CGGCTGTGGGGGCTGTGGCTC[1] (p.17CGSGCGG[2])	KRTAP5-1, KRTAP5-AS1	Microsatellite (inframe_deletion +1 more)	not provided	GLikely benign
Select item 2367270	NM_001005922.1(KRTAP5-1):c.67G>A (p.Gly23Ser)	KRTAP5-AS1, KRTAP5-1 (P118S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410811	NM_001005922.1(KRTAP5-1):c.64G>C (p.Gly22Arg)	KRTAP5-AS1, KRTAP5-1 (G22R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555967	NM_001005922.1(KRTAP5-1):c.47G>C (p.Gly16Ala)	KRTAP5-1, KRTAP5-AS1 (S124R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2684633	GRCh37/hg19 11p15.5(chr11:1517714-1751986)x3	DUSP8, KRTAP5-1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 2684632	GRCh37/hg19 11p15.5-15.4(chr11:192764-3362853)x3	ANO9, AP2A2 +89 more	Copy number gain	not provided	GPathogenic
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	C11orf42, MRGPRG +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 2427669	NC_000011.9:g.(?_1278740)_(2906719_?)dup	ASCL2, BRSK2 +32 more	Duplication	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 2425075	NC_000011.9:g.(?_721044)_(3988932_?)dup	AP2A2, ART1 +65 more	Duplication	not provided	GUncertain significance
Select item 1808628	GRCh37/hg19 11p15.5(chr11:461373-2157956)x4	AP2A2, BRSK2 +52 more	Copy number gain	not provided	GPathogenic
Select item 1807629	GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	OR10A6, RRM1 +205 more	Copy number gain	not provided	GPathogenic
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	ABCC8, ADM +308 more	Copy number gain	See cases	GPathogenic
Select item 1527624	GRCh37/hg19 11p15.5(chr11:1247127-1654552)	BRSK2, DUSP8 +8 more	Copy number gain	not specified	GUncertain significance
Select item 1339886	GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3	ANO9, AP2A2 +137 more	Copy number gain	not provided	Gnot provided
Select item 1017523	NC_000011.9:g.(?_298501)_(4113028_?)dup	PTDSS2, RASSF7 +89 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1004798	NC_000011.9:g.(?_612625)_(2193840_?)dup	BRSK2, AP2A2 +45 more	Duplication	Immunodeficiency 39 +1 more	GUncertain significance
Select item 983191	GRCh37/hg19 11p15.5-15.4(chr11:230615-4851537)x3	ANO9, AP2A2 +109 more	Copy number gain	See cases	GPathogenic
Select item 981209	GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3	IFITM3, OR52D1 +208 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 980415	GRCh37/hg19 11p15.5(chr11:1436158-2321134)x3	ASCL2, BRSK2 +22 more	Copy number gain	not provided	GPathogenic
Select item 832038	NC_000011.9:g.(?_532616)_(2906985_?)dup	INS-IGF2, IRF7 +63 more	Duplication	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	ABCC8, ADM +343 more	Copy number gain	not provided	GPathogenic
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	ADM, AKIP1 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	ADM, AKIP1 +258 more	Copy number gain	not provided	GPathogenic
Select item 563880	GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3	OR2AG2, OR2D2 +222 more	Copy number gain	not provided	GPathogenic
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	ABCC8, ADM +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ABCC8, ADM +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ABCC8, ABTB2 +364 more	Copy number gain	See cases	GPathogenic
Select item 394007	GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3	ART1, ART5 +132 more	Copy number gain	See cases	GPathogenic
Select item 221367	chr11:1092954..1857751 complex variant	BRSK2, CTSD +14 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221343	Single allele	BRSK2, CHID1 +17 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 60