KRTAP5-3[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 154856	GRCh38/hg38 11p15.5(chr11:196855-2116185)x3	ANO9, AP2A2 +204 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	A-GAMMA3'E, ANO9 +388 more	Copy number gain	See cases	GPathogenic
Select item 57274	GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3	ANO9, AP2A2 +271 more	Copy number gain	See cases	GPathogenic
Select item 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	LOC130005164, LOC130005165 +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	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	ASCL2, BGLT3 +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	ASCL2, BRSK2 +129 more	Copy number loss	See cases	GPathogenic
Select item 147689	GRCh38/hg38 11p15.5-15.4(chr11:1537379-3360769)x3	C11orf21, CARS1 +115 more	Copy number gain	See cases	GPathogenic
Select item 3117107	NM_001012708.2(KRTAP5-3):c.665G>A (p.Cys222Tyr)	KRTAP5-3 (C222Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206104	NM_001012708.2(KRTAP5-3):c.592A>C (p.Ser198Arg)	KRTAP5-3 (S198R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641348	NM_001012708.2(KRTAP5-3):c.573A>G (p.Lys191=)	KRTAP5-3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2319454	NM_001012708.2(KRTAP5-3):c.539G>A (p.Cys180Tyr)	KRTAP5-3 (C180Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536688	NM_001012708.2(KRTAP5-3):c.517C>T (p.Pro173Ser)	KRTAP5-3 (P173S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350031	NM_001012708.2(KRTAP5-3):c.446G>C (p.Ser149Thr)	KRTAP5-3 (S149T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537047	NM_001012708.2(KRTAP5-3):c.364G>A (p.Gly122Ser)	KRTAP5-3 (G122S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530266	NM_001012708.2(KRTAP5-3):c.356G>C (p.Gly119Ala)	KRTAP5-3 (G119A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535282	NM_001012708.2(KRTAP5-3):c.310T>A (p.Cys104Ser)	KRTAP5-3 (C104S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117105	NM_001012708.2(KRTAP5-3):c.262G>C (p.Gly88Arg)	KRTAP5-3 (G88R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117104	NM_001012708.2(KRTAP5-3):c.226G>A (p.Gly76Ser)	KRTAP5-3 (G76S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354644	NM_001012708.2(KRTAP5-3):c.138C>G (p.Cys46Trp)	KRTAP5-3 (C46W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117103	NM_001012708.2(KRTAP5-3):c.133G>A (p.Val45Met)	KRTAP5-3 (V45M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343637	NM_001012708.2(KRTAP5-3):c.133G>T (p.Val45Leu)	KRTAP5-3 (V45L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225251	NM_001012708.2(KRTAP5-3):c.110T>G (p.Val37Gly)	KRTAP5-3 (V37G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117106	NM_001012708.2(KRTAP5-3):c.35C>A (p.Ser12Tyr)	KRTAP5-3 (S12Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244518	NC_000011.9:g.(?_216698)_(2906719_?)dup	ANO9, AP2A2 +77 more	Duplication	Beckwith-Wiedemann syndrome	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	CARS1, CD151 +89 more	Copy number gain	not provided	GPathogenic
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	ANO9, AP2A2 +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	GATD1, IRF7 +52 more	Copy number gain	not provided	GPathogenic
Select item 1807629	GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	CAVIN3, CCKBR +205 more	Copy number gain	not provided	GPathogenic
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 1703675	GRCh37/hg19 11p15.5(chr11:1621232-2228572)	CTSD, H19 +15 more	Copy number gain	Beckwith-Wiedemann syndrome	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	IFITM5, SIGIRR +137 more	Copy number gain	not provided	Gnot provided
Select item 1017523	NC_000011.9:g.(?_298501)_(4113028_?)dup	ANO9, AP2A2 +89 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1004798	NC_000011.9:g.(?_612625)_(2193840_?)dup	AP2A2, BRSK2 +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	CHRNA10, CNGA4 +208 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 980415	GRCh37/hg19 11p15.5(chr11:1436158-2321134)x3	TNNT3, ASCL2 +22 more	Copy number gain	not provided	GPathogenic
Select item 832038	NC_000011.9:g.(?_532616)_(2906985_?)dup	C11orf21, AP2A2 +63 more	Duplication	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	C11orf40, C11orf42 +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	AKIP1, ANO9 +222 more	Copy number gain	not provided	GPathogenic
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 394007	GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3	OR51G2, OR51L1 +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: 57